# Lipodistrofia parcial familiar

> Página oficial: https://raras.org/doenca/lipodistrofia-parcial-familiar
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 98306 — https://www.orpha.net/en/disease/detail/98306
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

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.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (164 fenótipos HPO)

- **Concentração anormal de lipase lipoproteica circulante** — HPO: HP:0033477
- **Anormalidade do sistema complemento** — HPO: HP:0005339
- **Glomerulopatia** — HPO: HP:0100820
- **Celulite** — HPO: HP:0100658
- **Paralisia de nervo craniano** — HPO: HP:0006824
- **Hipertrofia muscular das extremidades inferiores** — HPO: HP:0008968
- **Erupção dentária avançada** — HPO: HP:0006288
- **Anormalidade do nível circulante de hormônios** — HPO: HP:0003117
- **Condução atrioventricular anormal** — HPO: HP:0005150
- **Aterosclerose acelerada** — HPO: HP:0004943
- **Crista nasal estreita** — HPO: HP:0000418
- **Hipertrofia muscular proximal dos membros superiores** — HPO: HP:0040266
- **Envelhecimento prematuro dos cabelos** — HPO: HP:0002216
- **Infertilidade** — HPO: HP:0000789
- **Aumento do nível de peptídeo C** — HPO: HP:0030796
- **Menstruação irregular** — HPO: HP:0000858
- **Acroosteólise das falanges distais (pés)** — HPO: HP:0001870
- **Fibrose hepática** — HPO: HP:0001395
- **Arritmia supraventricular** — HPO: HP:0005115
- **Aterosclerose precoce** — HPO: HP:0004416
- **Diabetes mellitus resistente à insulina na puberdade** — HPO: HP:0000877
- **Arritmia ventricular** — HPO: HP:0004308
- **Defeitos osteolíticos das falanges da mão** — HPO: HP:0009771
- **Gordura subcutânea mínima** — HPO: HP:0003717
- **Morfologia anormal da unha** — HPO: HP:0001597
- **Fraqueza muscular proximal nos membros inferiores** — HPO: HP:0008994
- **Anormalidade do tamanho da fibra muscular esquelética** — HPO: HP:0012084
- **Pseudo-hipertrofia do músculo da panturrilha** — HPO: HP:0003707
- **Cardiomiopatia hipertrófica** — HPO: HP:0001639
- **Aplasia/Hipoplasia da pele** — HPO: HP:0008065
- **Hipertrofia do músculo da panturrilha** — HPO: HP:0008981
- **Anormalidade dos grandes lábios** — HPO: HP:0012881
- **Dismenorreia** — HPO: HP:0100607
- **Fraqueza muscular proximal nos membros superiores** — HPO: HP:0008997
- **Nível diminuído de adiponectina** — HPO: HP:0030685
- **Leptina sérica diminuída** — HPO: HP:0003292
- **Veias proeminentes no tronco** — HPO: HP:0007457
- **Amenorreia secundária** — HPO: HP:0000869
- **Coxim gorduroso dorsocervical** — HPO: HP:0025383
- **Apneia obstrutiva do sono** — HPO: HP:0002870
- _...e mais 124 sintomas. Ver https://raras.org/doenca/lipodistrofia-parcial-familiar._

## Genes associados (9)

- **PLIN1** — Perilipin-1 [Disease-causing germline mutation(s) in]
  - Função: 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 l
- **AKT2** — RAC-beta serine/threonine-protein kinase [Candidate gene tested in]
  - Função: 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, ce
- **LIPE** — Hormone-sensitive lipase [Disease-causing germline mutation(s) in]
  - Função: Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583,
- **NOTCH3** — Neurogenic locus notch homolog protein 3 [Disease-causing germline mutation(s) in]
  - Função: 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
- **ADRA2A** — Alpha-2A adrenergic receptor [Disease-causing germline mutation(s) in]
  - Função: 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
- **CIDEC** — Lipid transferase CIDEC [Disease-causing germline mutation(s) in]
  - Função: 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
- **PLAAT3** — Phospholipase A and acyltransferase 3 [Disease-causing germline mutation(s) in]
  - Função: 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) activ
- **PPARG** — Peroxisome proliferator-activated receptor gamma [Disease-causing germline mutation(s) in]
  - Função: 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 met
- **LMNA** — Prelamin-A/C [Disease-causing germline mutation(s) in]
  - Função: 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 i

## Ensaios clínicos ativos (4)

- **NCT05996536** [RECRUITING]: Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD) — https://clinicaltrials.gov/study/NCT05996536
- **NCT06679270** [RECRUITING]: Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT06679270
- **NCT03900286** [RECRUITING]: Low Energy Diet and Familial Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT03900286
- **NCT07412028** [NOT_YET_RECRUITING]: Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS) — https://clinicaltrials.gov/study/NCT07412028
- **NCT02404896** [AVAILABLE]: Expanded Access Metreleptin Study — https://clinicaltrials.gov/study/NCT02404896
- **NCT04845165** [COMPLETED]: Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2 — https://clinicaltrials.gov/study/NCT04845165
- **NCT05088460** [TERMINATED]: A Study to Examine the Effects of the Leptin Receptor (LEPR) Agonist Antibody REGN4461 in Adult Patients With Familial Partial Lipodystrophy (FPLD) — https://clinicaltrials.gov/study/NCT05088460
- **NCT02430077** [COMPLETED]: Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients — https://clinicaltrials.gov/study/NCT02430077
- **NCT02858830** [COMPLETED]: Familial Partial Lipodystrophy Study — https://clinicaltrials.gov/study/NCT02858830
- **NCT02527343** [TERMINATED]: The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT02527343

## Doenças relacionadas (por similaridade fenotípica)

- [Lipodistrofia parcial familiar, tipo Dunnigan](https://raras.org/doenca/lipodistrofia-parcial-familiar-tipo-dunnigan) — ORPHA:2348 — 91 sintomas em comum
- [Laminopatia lipodistrófica grave autossômica semidominante](https://raras.org/doenca/laminopatia-lipodistrofica-grave-autossomica-semidominante) — ORPHA:280365 — 49 sintomas em comum
- [NÃO RARA NA EUROPA: Síndrome metabólica](https://raras.org/doenca/nao-rara-na-europa-sindrome-metabolica) — ORPHA:411969 — 45 sintomas em comum
- [Síndrome de lipodistrofia-neuropatia desmielinizante sensitivo-motora periférica](https://raras.org/doenca/sindrome-de-lipodistrofia-neuropatia-desmielinizante-sensitivo-motora-periferica) — ORPHA:686999 — 44 sintomas em comum
- [Lipodistrofia parcial familiar PPARG-relacionada](https://raras.org/doenca/lipodistrofia-parcial-familiar-pparg-relacionada) — ORPHA:79083 — 43 sintomas em comum
- [Síndrome Alström](https://raras.org/doenca/sindrome-alstrom) — ORPHA:64 — 36 sintomas em comum
- [Displasia mandíbulo-acral](https://raras.org/doenca/displasia-mandibulo-acral) — ORPHA:2457 — 35 sintomas em comum
- [Lipodistrofia parcial familiar LIPE-relacionada](https://raras.org/doenca/lipodistrofia-parcial-familiar-lipe-relacionada) — ORPHA:435660 — 35 sintomas em comum
- [Lipodistrofia generalizada congênita](https://raras.org/doenca/lipodistrofia-generalizada-congenita) — ORPHA:528 — 34 sintomas em comum
- [Distrofia muscular de Emery-Dreifuss](https://raras.org/doenca/distrofia-muscular-de-emery-dreifuss) — ORPHA:261 — 32 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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