A lipodistrofia parcial familiar (FPLD) é um grupo de síndromes lipodistróficas genéticas raras caracterizadas, na maioria dos casos, pela perda de gordura dos membros e nádegas, desde a infância ou início da idade adulta, e frequentemente associadas a acantose nigricans, resistência à insulina, diabetes, hipertrigliceridemia e esteatose hepática.
Introdução
O que você precisa saber de cara
A lipodistrofia parcial familiar (FPLD) é um grupo de síndromes lipodistróficas genéticas raras caracterizadas, na maioria dos casos, pela perda de gordura dos membros e nádegas, desde a infância ou início da idade adulta, e frequentemente associadas a acantose nigricans, resistência à insulina, diabetes, hipertrigliceridemia e esteatose hepática.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 56 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 164 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels
Endoplasmic reticulumLipid droplet
Lipodystrophy, familial partial, 4
An autosomal dominant form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension.
Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. AKT regulates many processes including metabolism, proliferation, cell survival, growth and angiogenesis, through the phosphorylation of a range of downstream substrates. Over 100 substrates have been reported so far, although for most of them, the precise AKT kinase catalyzing the reaction was not specified. AKT regulates glucose uptake by mediating insulin-induced
CytoplasmNucleusCell membraneEarly endosome
Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583, PubMed:15955102, PubMed:19800417, PubMed:8812477). Shows a preferential hydrolysis of DAGs over TAGs and MAGs and preferentially hydrolyzes the fatty acid (FA) esters at the sn-3 position of the glycerol backbone in DAGs (PubMed:19800417). Preferentially hydrolyzes FA esters at the sn-1 and sn-2 po
Cell membraneMembrane, caveolaCytoplasm, cytosolLipid droplet
Lipodystrophy, familial partial, 6
An autosomal recessive form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy.
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)
Cell membraneNucleus
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1
A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression (PubMed:2170371, PubMed:23105096, PubMed:2568356, PubMed:35245122, PubMed:27376152). Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release (PubMed:2568356, PubMed:27376152). ADRA2A and ADRA2C mediates the
Cell membrane
Lipodystrophy, familial partial, 8
An autosomal dominant form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD8 patients show selective loss of subcutaneous adipose tissue from the limbs, beginning around 13 to 15 years of age, and abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia.
Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566, PubMed:30361435). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and medi
Lipid dropletEndoplasmic reticulumNucleus
Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19047760, PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:22923616). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O
Cell membraneCytoplasmCytoplasm, cytosolCytoplasm, perinuclear regionPeroxisome membraneMitochondrion membraneNucleus envelopeLysosome membraneEndoplasmic reticulum membrane
Lipodystrophy, familial partial, 9
An autosomal recessive form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD9 patients are lean and show muscular hypertrophy, insulin-resistant diabetes with hyperinsulinemia, hypertriglyceridemia with low high-density lipoprotein (HDL) cholesterol, liver steatosis, and polycystic ovary syndrome with hirsutism. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. Most patients also have neurologic features, including demyelinating polyneuropathy, developmental delay and intellectual disability.
Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metab
NucleusCytoplasm
Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:2188730, PubMed:22431096, PubMed:2344612, PubMed:23666920, PubMed:24741066, PubMed:31434876, PubMed:
Nucleus laminaNucleus envelopeNucleus, nucleoplasmNucleus matrixNucleus speckle
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Variantes genéticas (ClinVar)
88 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 349 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
64 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Lipodistrofia parcial familiar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
13 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
Familial partial lipodystrophy type 3 (FPLD3) is a rare autosomal dominant disorder caused by mutations in peroxisome proliferator-activated receptor gamma(PPARG), which encodes the key adipogenic transcription factor peroxisome proliferator-activated receptor gamma(PPARγ). Clinical diagnosis is challenging due to phenotypic overlap with common metabolic syndromes. We identified a novel PPARG variant in a Chinese family and performed comprehensive functional characterization to elucidate its pathogenic mechanism. The proband, a 15-year-old boy presenting with atypical fat distribution, severe insulin resistance, hypertriglyceridemia, and pancreatitis, underwent clinical evaluation and whole-exome sequencing. The identified variant was confirmed by Sanger sequencing. Its functional impact was assessed through in silico modeling, luciferase reporter assays, protein stability analysis (cycloheximide chase), and evaluation of mitochondrial function (JC-1 staining) and adipocyte gene expression in cellular models. A heterozygous PPARG c.634C>T (p.Arg212Trp, R212W) variant was identified and segregated with the phenotype. Functional studies revealed that the R212W mutant exhibits a partial loss of transcriptional activity (~40% of wild-type) while retaining ligand sensitivity. Crucially, we demonstrated that the mutant protein has significantly reduced stability due to accelerated degradation. In adipocyte models, R212W expression led to impaired mitochondrial membrane potential, depleted cellular ATP levels, and downregulated expression of key metabolic genes (glucose transporter 4[GLUT4], adiponectin[ADIPOQ], fatty acid binding protein 4[FABP4], lipoprotein lipase[LPL], perilipin 1[PLIN1]). These functional deficits were partially rescued by treatment with the PPARγ agonist rosiglitazone. We report a novel pathogenic PPARG R212W variant associated with FPLD3. Our data extend beyond a simple loss-of-function model by establishing a multi-faceted pathogenic mechanism involving protein destabilization, mitochondrial dysfunction, and cellular bioenergetic failure. The partial rescue by rosiglitazone suggests a potential therapeutic avenue. This study underscores the importance of integrating clinical phenotyping with deep functional analysis to diagnose and understand rare monogenic lipodystrophies.
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Genetic lipodystrophies are a heterogeneous group of autosomal dominant and recessive disorders characterized by generalized or partial loss of body fat. Most patients with familial partial lipodystrophy (FPLD) have dominant inheritance with heterozygous pathogenic missense variants in LMNA. Here, we report two females with rare biallelic variants in LMNA presenting with divergent lipodystrophic phenotypes. Proband 1, a 32-year-old female, has near-generalized lipodystrophy (body fat 12.7%) due to compound heterozygous c.1745G>T (p.R582L) and c.1750C>T (p.R584C) LMNA variants. She was diagnosed with diabetes at age 17, hypertriglyceridemia at age 18, and metabolic dysfunction-associated steatotic liver disease (MASLD) at age 20. She was treated with metreleptin with only partial improvement in metabolic parameters. Her parents, heterozygous carriers of these variants, did not have lipodystrophy. Proband 2, a 35-year-old female, has partial lipodystrophy (body fat 21.2%) due to a homozygous c.1750C>T (p.R584C) LMNA variant. She was diagnosed with diabetes at age 19 and had a history of hypertriglyceridemia and mild hepatic steatosis. Her parents reportedly did not have lipodystrophy. These cases highlight the expression of LMNA variants in the homozygous or compound heterozygous state, manifesting in near-generalized and partial loss of body fat with distinct phenotypic heterogeneity.
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
Familial partial lipodystrophy type 2 (FPLD2), or Dunnigan syndrome, is a rare autosomal dominant disorder caused by mutations in the lamin A (LMNA) gene, most frequently involving the p.R482W variant. It is characterized by regional loss of subcutaneous fat and severe metabolic abnormalities, particularly dyslipidemia, insulin resistance, and hepatic steatosis. We report a family with three individuals -mother and two siblings- carrying the same pathogenic LMNA c.1444C>T (p.R482W) variant but exhibiting distinct clinical and biochemical profiles. The proband (patient 1) is a 29-year-old male, presented with moderate metabolic disturbances, including hypertriglyceridemia, low levels of high density lipoprotein-cholesterol (HDL-C), and hepatic steatosis, accompanied by physical features such as dorsocervical fat accumulation and winged neck. His dizygotic female twin (patient 2) exhibited a more severe phenotype with triglycerides levels approached 700 mg/dL, insulin resistance, and polycystic ovarian morphology (PCOM). Their 68-year-old mother, also a carrier, showed only mild dyslipidemia and unstable angina. The comparison of dizygotic twins and their mother carrying the same LMNA variant provides a unique opportunity to illustrate how sex, age, and hormonal status modulate metabolic severity in FPLD2. These findings reinforce the clinical relevance of family-based evaluation and early metabolic surveillance, even in mildly affected or asymptomatic carriers.
Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
Autosomal recessive familial partial lipodystrophy type 5 (FPLD5) due to a homozygous NP_001186481.1; p.E186* CIDEC variant has previously been reported in a 19-year-old female with diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Now, we report an 18-year-old Hispanic female who presented with FPL, along with hirsutism, acanthosis nigricans, and marked insulin resistance, and was found to have an extremely rare homozygous variant in CIDEC (NM_001199623.2:c.224G>T; NP_001186552.1; p.Ser75Ile) by whole exome sequencing. She also harbored a novel homozygous variant in WRN (NM_000553.4:c.1856T>G; NP_000544; p.Leu619Arg). Both serine 75 of the CIDEC protein and leucine 619 of the WRN protein were well conserved across species. She developed an invasive papillary thyroid carcinoma at the age of 17 years. Our report confirms the previously reported association of the biallelic CIDEC variant with the FPL phenotype and also highlights the extremely rare possibility of co-occurrence of FPLD5 with thyroid cancer, a clinical feature of Werner syndrome. Thus, our patient may not only need surveillance for the metabolic complications of FPLD5, such as diabetes, hypertriglyceridemia, and hepatic steatosis, but also for WRN-associated neoplasms and features of premature aging.
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
Background Lipodystrophies are rare disorders characterized by loss of adipose tissue, leading to severe metabolic and multisystem complications. Data on real-world management remain limited, particularly in Portugal. Objectives The objective of this study is to describe the clinical, metabolic, genetic, and therapeutic characteristics of patients with confirmed or suspected lipodystrophy followed at a Portuguese Endocrinology Outpatient Clinic. Methods We conducted a retrospective observational study including 21 patients with clinical suspicion or diagnosis of lipodystrophy. Demographic, clinical, laboratory, imaging, and genetic data were collected. Results The cohort was predominantly female (90.5%) with a median age at diagnosis of 49 years. Sixteen patients (76.2%) had familial partial lipodystrophy (FPLD), two (9.5%) had congenital generalized lipodystrophy, two (9.5%) had acquired generalized lipodystrophy, and one presented a complex syndromic form. Diabetes mellitus was present in 71.4% of patients and hypertriglyceridemia in 52.4%. Metabolic liver disease occurred in both generalized and partial forms. Autoimmune disorders affected 31.6% of patients, and cardiac involvement was observed in 23.8%. Genetic testing identified pathogenic or likely pathogenic variants in BSCL2 and PPARG in three patients, while most FPLD cases remained genetically unexplained. Metreleptin therapy in three patients with generalized lipodystrophy improved glycemic control, triglycerides, liver enzymes, and proteinuria. Dual-energy X-ray absorptiometry imaging supported the phenotypic characterization of adipose tissue loss. Conclusions Detailed physical examination, genetic testing, imaging, and early therapeutic interventions are critical for management. These findings align with European registry data and highlight the need for increased awareness and systematic evaluation in real-world clinical practice.
Publicações recentes
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.
Lamin A/C in health, laminopathies, and familial partial lipodystrophy 2.
A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.
📚 EuropePMC243 artigos no totalmostrando 193
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
CureusCase Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.
Frontiers in endocrinologyLamin A/C in health, laminopathies, and familial partial lipodystrophy 2.
Trends in endocrinology and metabolism: TEMA simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.
EndocrinologyA Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
International journal of molecular sciencesFamilial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
International journal of molecular sciencesVariable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
The application of clinical geneticsIncreased epicardial adipose tissue is part of the phenotype of LMNA-associated partial lipodystrophy and could contribute to increased cardiovascular risk.
Diabetes & metabolismNovel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
International journal of molecular sciencesTargeting mineralocorticoid receptors to treat metabolic diseases via the adipocyte.
EndocrinologyImprovement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen.
Journal of clinical lipidologyMetabolic effects of pioglitazone and sodium-glucose cotransporter 2 inhibitors in familial partial lipodystrophy.
Acta diabetologicaEpicardial adipose tissue measurement is an interesting biomarker for cardiovascular health in a case control study of patients with familial partial type 2 lipodystrophy.
Diabetes & metabolismCoincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.
JCEM case reportsAltered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.
The Journal of clinical investigationEpidemiological and clinical data from the European Lipodystrophy Registry.
European journal of endocrinologyEnhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.
Communications medicineCalf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study.
Diabetology & metabolic syndromeThe clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.
Frontiers in endocrinologyPotential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.
Clinical endocrinologyLiraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.
BMC pediatricsHeterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia.
Journal of clinical lipidologyGenetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.
Journal of the Endocrine SocietyInteresting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.
The Journal of the Association of Physicians of IndiaA real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.
Frontiers in endocrinologyBrazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.
Diabetology & metabolic syndromeNovel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismDiagnosis and Management of Genetic Lipodystrophy Syndromes and its Implications for Atherosclerosis.
Current atherosclerosis reportsNovel Therapeutics for Familial Chylomicronemia Syndrome.
Current atherosclerosis reportsComprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies.
World journal of diabetesLipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry.
Annales d'endocrinologieA case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
Archives of endocrinology and metabolismEfficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismMetabolic Improvements With Tirzepatide in Lipodystrophy: A Novel Option?
Diabetes careLMNA R482L mutation causes impairments in C2C12 myoblasts subpopulations, alterations in metabolic reprogramming during differentiation, and oxidative stress.
Scientific reportsSafety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.
Diabetes, obesity & metabolismTirzepatide for Lipodystrophy.
medRxiv : the preprint server for health sciences"I suffer from several serious diseases." Dunnigan type of familial partial lipodystrophy: a multiple-symptom disorder caused by a genetic mutation.
Polish archives of internal medicineCorrigendum: Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
Frontiers in endocrinologyPeroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature.
World journal of diabetesCase Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.
Frontiers in geneticsGain of Function NOTCH3 Variants Cause Familial Partial Lipodystrophy Due to Activation of Senescence Pathways.
DiabetesGenomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.
International journal of molecular sciencesA series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Scientific reportsIdentification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant.
Acta diabetologicaGeneration of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9.
Stem cell researchPhenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.
Archives of endocrinology and metabolismFamilial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
Frontiers in endocrinologyAssessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.
Journal of endocrinological investigationCardiac laminopathy in familial partial lipodystrophy type 2 secondary to variants in the LMNA gene.
Medicina clinicaAnthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.
Diabetology & metabolic syndromeCardiometabolic risk factors in women: what's sauce for the goose is not sauce for the gander.
Current opinion in endocrinology, diabetes, and obesityA cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Diabetes, obesity & metabolismNavigating Lipodystrophy: Insights from Laminopathies and Beyond.
International journal of molecular sciencesCirculating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup.
American journal of physiology. Endocrinology and metabolismUnderstanding Cardiac Alterations in Familial Partial Lipodystrophy: Insights from Echocardiography.
Arquivos brasileiros de cardiologiaCase report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.
Diabetology & metabolic syndromeEchocardiographic Alterations of Cardiac Geometry and Function in Patients with Familial Partial Lipodystrophy.
Arquivos brasileiros de cardiologiaHypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1-Related Lipodystrophy.
Arteriosclerosis, thrombosis, and vascular biologyComprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Frontiers in endocrinologyPodocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
Archives of endocrinology and metabolismDiagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.
Orphanet journal of rare diseasesGestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.
Frontiers in endocrinologyEarly Atherosclerosis and Conduction Defect in a Rare Case of Dunnigan Type Familial Partial Lipodystrophy.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirLabia Majora Hypertrophy in a Patient Affected by Familial Partial Lipodystrophy Type 5: A Case Report on Diagnosis, Presentation, and Surgical Correction.
Aesthetic plastic surgerySerum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.
Journal of endocrinological investigationRelationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.
DiabetesClinical and imaging features of women with polygenic partial lipodystrophy: a case series.
Nutrition & diabetesEfficacy and Safety of Glucagon-Like Peptide 1 Agonists in a Retrospective Study of Patients With Familial Partial Lipodystrophy.
Diabetes careEffect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation.
International journal of molecular sciencesPerilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Cardiovascular researchMineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.
CellsA Very-Low-Calorie Diet Can Cause Remission of Diabetes Mellitus and Hypertriglyceridemia in Familial Partial Lipodystrophy.
Obesity factsRefining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome.
International journal of molecular sciencesWaist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.
Diabetology & metabolic syndromeIsolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review.
Plastic and reconstructive surgery. Global openFamilial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
International journal of molecular sciencesA promising treatment for spontaneous ovarian hyperstimulation syndrome due to familial partial lipodystrophy: GnRH analogs combined with cyst aspiration.
Hormones (Athens, Greece)Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
CellsA recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
American journal of medical genetics. Part AHigh-throughput Second-generation Sequencing Technology Assisted Diagnosis of Familial Partial Lipodystrophy (Type 2 Kobberling-Dunnigan Syndrome): A Case Report.
Combinatorial chemistry & high throughput screeningDrosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.
CellsAPOC3 inhibition with volanesorsen reduces hepatic steatosis in patients with severe hypertriglyceridemia.
Journal of clinical lipidologyIncreased musculature: A warning sign of familial partial lipodystrophy.
Endocrinologia, diabetes y nutricionFamilial partial lipodystrophy type 2 and obesity, two adipose tissue pathologies with different inflammatory profiles.
Diabetology & metabolic syndromeClinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
CellsInguinal Fat Compensates Whole Body Metabolic Functionality in Partially Lipodystrophic Mice with Reduced PPARγ Expression.
International journal of molecular sciencesPelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismLoss of Mature Lamin A/C Triggers a Shift in Intracellular Metabolic Homeostasis via AMPKα Activation.
CellsAssessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study.
Journal of clinical lipidologyLipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.
Diabetes & metabolismPhenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Journal of the Endocrine SocietyClinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation.
Endocrine journalRIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease.
Hepatology (Baltimore, Md.)Cellular Metabolism and Bioenergetic Function in Human Fibroblasts and Preadipocytes of Type 2 Familial Partial Lipodystrophy.
International journal of molecular sciencesDescribing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.
Clinical endocrinologySevere loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.
Journal of pediatric endocrinology & metabolism : JPEMLipodystrophy for the Diabetologist-What to Look For.
Current diabetes reportsVisualisation pattern of fat distribution of a rare disorder: familial partial lipodystrophy (FPLD).
BMJ case reportsFamilial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.
Diagnostics (Basel, Switzerland)Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Orphanet journal of rare diseasesCase Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.
Frontiers in endocrinologyNuclear lamins: Structure and function in mechanobiology.
APL bioengineeringRare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia.
AACE clinical case reportsGenomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy.
Nature communicationsGenotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes.
Annals of pediatric endocrinology & metabolismSelective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.
Lipids in health and diseaseAdvances in the care of lipodystrophies.
Current opinion in endocrinology, diabetes, and obesityImpaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismFamilial partial lipodystrophy syndromes.
Presse medicale (Paris, France : 1983)Rapid response to leptin therapy in a FPLD patient with a novel PPARG missense variant.
Endocrinology, diabetes & metabolism case reportsPrevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2.
Journal of clinical lipidologyAdenine base editing to treat progeria syndrome and extend the lifespan.
The journal of cardiovascular agingA recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
European journal of endocrinologyCase Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance.
Frontiers in endocrinologyAdipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2.
DiabetesCase Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.
Frontiers in endocrinologyVariable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant.
Journal of clinical medicineVariable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
Journal of clinical medicinePartial Lipodystrophy and LMNA p.R545H Variant.
Journal of clinical medicineCardiac phenotype in familial partial lipodystrophy.
Clinical endocrinologyThe Metabolic Equivalent BMI in Patients with Familial Partial Lipodystrophy (FPLD) Compared with Those with Severe Obesity.
Obesity (Silver Spring, Md.)The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial.
Antioxidants (Basel, Switzerland)Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1.
Internal medicine (Tokyo, Japan)Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
Clinical dysmorphologySEVERE HYPERTRIGLYCERIDEMIA ASSOCIATED WITH EVEROLIMUS TREATMENT AFTER HEART TRANSPLANTATION.
AACE clinical case reportsLMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
GenesDevelopment of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.
Methods in molecular biology (Clifton, N.J.)Development and Clinical Applications of Antisense Oligonucleotide Gapmers.
Methods in molecular biology (Clifton, N.J.)Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.
CellsVolanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.
Drug design, development and therapyHomozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Clinical diabetes and endocrinologyUNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.
AACE clinical case reportsPeroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration.
Journal of cellular and molecular medicineHypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.
The Annals of otology, rhinology, and laryngologyFamilial Partial Lipodystrophy (FPLD): Recent Insights.
Diabetes, metabolic syndrome and obesity : targets and therapyGeneration of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene.
Stem cell researchDiagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.
The Journal of clinical endocrinology and metabolismRelapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis.
Blood purificationMetabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy.
Journal of the Endocrine SocietyThe novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy.
Acta diabetologicaClinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
DiabetesGeneration of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene.
Stem cell researchMassive labial lipomatous hypertrophy in familial partial lipodystrophy seen on computed tomographic angiography.
Radiology case reportsDiagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismAltered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning.
Experimental & molecular medicineVolanesorsen: First Global Approval.
DrugsR482L Mutation of the LMNA Gene Affects Dynamics of C2C12 Myogenic Differentiation and Stimulates Formation of Intramuscular Lipid Droplets.
Biochemistry. BiokhimiiaEfficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
The Journal of clinical endocrinology and metabolismClinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.
Diabetes research and clinical practiceFatty liver in lipodystrophy: A review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement.
Metabolism: clinical and experimentalThe Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.
Annals of internal medicineClinical utility of genomic analysis in adults with idiopathic liver disease.
Journal of hepatologyPhenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2.
Clinical endocrinologyStructural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy.
Biochemical and biophysical research communicationsThe Cutting Edge: The Role of mTOR Signaling in Laminopathies.
International journal of molecular sciencesGene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.
Biochimica et biophysica acta. Molecular and cell biology of lipidsEvaluation of the hypothalamic-pituitary-adrenal axis in a case series of familial partial lipodystrophy.
Diabetology & metabolic syndromeNatural helix 9 mutants of PPARγ differently affect its transcriptional activity.
Molecular metabolismLipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.
PathologyRegional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.
The Journal of clinical endocrinology and metabolismMonogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Current medical research and opinionPancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy.
Diabetology & metabolic syndrome"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers.
Diabetes careHomozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Frontiers in endocrinologyIrisin levels in LMNA-associated partial lipodystrophies.
Diabetes & metabolismPolycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects.
Nucleus (Austin, Tex.)Lamin A, Chromatin and FPLD2: Not Just a Peripheral Ménage-à-Trois.
Frontiers in cell and developmental biologyPLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
The Journal of clinical endocrinology and metabolismInflammatory myopathy in the context of an unusual overlapping laminopathy.
Archives of endocrinology and metabolismThe renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.
BMC nephrologyA new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.
Endocrine researchA Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
DiabetesClinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic.
Internal medicine (Tokyo, Japan)Lipodystrophic laminopathies: Diagnostic clues.
Nucleus (Austin, Tex.)Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type.
Diabetology & metabolic syndromeThe lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks.
Human molecular geneticsLamin A/C Maintains Exocrine Pancreas Homeostasis by Regulating Stability of RB and Activity of E2F.
GastroenterologyFPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism.
Biochemical and biophysical research communicationsBone mineral density in familial partial lipodystrophy.
Clinical endocrinologyInsulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist.
Diabetic medicine : a journal of the British Diabetic AssociationDetermining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
Diagnostic and interventional radiology (Ankara, Turkey)Lamin A/C mutation associated with lipodystrophy influences adipogenic differentiation of stem cells through interaction with Notch signaling.
Biochemistry and cell biology = Biochimie et biologie cellulaireRoux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.
The Journal of clinical endocrinology and metabolismHepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis.
Cellular and molecular gastroenterology and hepatologyItm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation.
AdipocyteClinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Neuromuscular disorders : NMDLMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Frontiers in geneticsLipodystrophy: Time for a global registry and randomized clinical trials to assess efficacy, safety and cost-effectiveness of established and novel medications.
Metabolism: clinical and experimentalClinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
Metabolism: clinical and experimentalFamilial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.
Endocrinology, diabetes & metabolism case reports[A complex case of diabetes due to LMNA mutation].
La Revue de medecine interneDipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
- Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
- Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
- Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
- Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
- Genetic dyslipidemias.
- Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.
- Lamin A/C in health, laminopathies, and familial partial lipodystrophy 2.
- A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98306(Orphanet)
- MONDO:0020088(MONDO)
- GARD:11962(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5432945(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar