Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
O quadro clínico é caracterizado por alterações do perfil lipídico, incluindo concentração diminuída de colesterol HDL e concentração anormal de lipídios circulantes. No sistema ocular, podem ocorrer visão turva e opacificação do estroma corneano. Manifestações cutâneas e teciduais compreendem xantomatose e xantelasma.[1][2]
Além disso, a doença pode acarretar complicações vasculares e cardíacas relevantes, como aterosclerose, angina pectoris e aterosclerose prematura da artéria coronária.[1][2]
Causas genéticas
Diagnóstico
Tratamento e manejo
O manejo concentra-se no controle das alterações lipídicas e na prevenção de complicações ateroscleróticas e coronarianas associadas.[1][3]
No âmbito do Sistema Único de Saúde (SUS), o Protocolo Clínico e Diretrizes Terapêuticas (PCDT) de Dislipidemia: prevenção de eventos cardiovasculares e pancreatite (aprovado pela Portaria Conjunta SAS-SCTIE/MS nº 8, de 30 de julho de 2019) regulamenta a dispensação nas farmácias públicas dos seguintes medicamentos: Atorvastatina cálcica (comprimidos de 20 mg, 40 mg e 80 mg), Sinvastatina (comprimidos de 10 mg, 20 mg e 40 mg), Pravastatina sódica (comprimidos de 10 mg, 20 mg e 40 mg), Fenofibrato (cápsula de 200 mg e cápsula de liberação retardada de 250 mg), Genfibrozila (comprimidos de 600 mg e 900 mg), Etofibrato (cápsula de 500 mg) e Bezafibrato (comprimido de liberação prolongada de 400 mg).[5][5][5][5][5][5][5][5][5][5][5][5][5][5][5]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A deficiência de apolipoproteína A-I é uma condição genética rara em que o organismo apresenta níveis extremamente baixos de colesterol HDL no sangue. A falta dessa proteína protetora pode levar ao surgimento de visão turva, opacidade nos olhos, placas amareladas na pele e aumento prematuro do risco de entupimento nas artérias do coração. A manifestação dos sintomas pode ter início em qualquer fase da vida, exigindo vigilância médica contínua. Embora não exista um protocolo de tratamento exclusivo para a doença no Ministério da Saúde, o SUS dispensa medicamentos para controle do perfil lipídico através do PCDT de Dislipidemia.
Doença genética rara autossômica dominante associada a mutações nos genes ABCA1 ou APOA1, caracterizada por baixos níveis de HDL e apoA-I. Manifesta-se com aterosclerose prematura, angina, xantelasma e opacificação corneana, levando à visão turva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Hypoalphalipoproteinemia, primary, 2
An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.
Tangier disease
An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy.
Variantes genéticas (ClinVar)
280 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 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 — Deficiência de apolipoproteína A-I
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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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Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
Apolipoprotein A1 deficiency increases macrophage apoptosis and necrotic core development in atherosclerotic plaques in a Bim-dependent manner.
In advanced atherosclerotic lesions, macrophage apoptosis contributes to plaque progression and the formation of necrotic cores, rendering plaques vulnerable to rupture. The proapoptotic protein B-cell lymphoma 2 [Bcl-2] interacting mediator of cell death (Bim) plays a crucial role in mediating apoptosis in macrophages under prolonged endoplasmic reticulum stress. HDL has been shown to suppress macrophage apoptosis induced by endoplasmic reticulum stressors. To investigate the impact of apolipoprotein A1 (ApoA1) deficiency, associated with reduced HDL levels, on necrotic core growth and plaque apoptosis, we introduced ApoA1 deficiency into low-density lipoprotein receptor (LDLR) knockout mice and fed them a high-fat diet for 10 weeks. ApoA1-deficient Ldlr KO mice developed advanced plaques characterized by large necrotic cores, increased apoptosis, and elevated Bim expression in macrophages within the plaques. To assess whether deletion of Bim could mitigate this development, mice underwent bone marrow transplantation with bone marrow from either Bim-deficient mice or from mice with a deletion of myeloid-derived Bim driven by LyzM-cre. Inhibiting Bim in all bone marrow-derived cells led to leukocytosis, reductions in plasma cholesterol and triglyceride levels, and decreased plaque apoptosis, necrotic core, and plaque sizes in ApoA1 and Ldlr double-KO mice but not in Ldlr KO mice. Likewise, conditional deletion of Bim in the myeloid compartment of ApoA1 and Ldlr double-KO mice also reduced apoptosis, necrotic core sizes, and plaque sizes, without inducing leukocytosis or lowering plasma cholesterol levels. These findings suggest that ApoA1 deficiency triggers apoptosis in myeloid cells through a Bim-dependent pathway, significantly contributing to the development of necrotic cores and the progression of atherosclerotic plaques.
The lack of apoA-I in apoE-KO mice affects the liver transcriptome.
Liver is the major organ involved in apoA-I synthesis and HDL-C turnover, but the impact of apoA-I/HDL on hepatic transcriptome has never been investigated before. In the present study, a transcriptomic analysis by high-throughput RNA-seq was conducted in the liver of atherosclerosis-prone mice, with the aim of identifying new genes/pathways modulated by apoA-I/HDL with a potential effect on atherosclerosis development. Eight-week-old apoE knockout (apoEKO) mice lacking apoA-I/HDL (DKO) and with physiological levels of apoA-I/HDL (DKO/hA-I) were fed either a standard rodent diet (SRD) or a Western diet (WD) for 22 weeks. After both dietary treatments, DKO mice were characterized by lower cholesterol levels, but increased atherosclerosis development, compared to DKO/hA-I mice. The liver transcriptome of DKO and DKO/hA-I mice fed SRD diverged in a relatively small number of genes, suggestive of a greater activation of the PPAR signaling pathway and the retinoid metabolism pathway in DKO/hA-I mice. Following WD, transcriptomic analysis highlighted in both genotypes an upregulated expression of immune/inflammatory genes and a reduced activation of the retinoid metabolism. The evaluation of the hepatic response of the two genotypes to the dietary switch from SRD to WD revealed strong divergences in genes involved in metabolic pathways only in the presence of apoA-I/HDL, with reduced endogenous sterol biosynthesis and glutathione metabolism, together with increased glucose metabolism. The presence or absence of apoA-I expression differently alters hepatic pathways involved not only in cholesterol metabolism, but also in those of glutathione and glucose metabolism.
Apolipoprotein A1 deficiency in mice primes bone marrow stem cells for T cell lymphopoiesis.
The bone marrow has emerged as a potentially important target in cardiovascular disease as it generates all leukocytes involved in atherogenesis. In the current study, we evaluated whether a change in bone marrow functionality underlies the increased atherosclerosis susceptibility associated with high-density lipoprotein (HDL) deficiency. We found that HDL deficiency in mice due to the genetic lack of hepatocyte-derived apolipoprotein A1 (APOA1) was associated with an increase in the Lin-Sca-1+Kit+ (LSK) bone marrow stem cell population and lymphoid-primed multipotent progenitor numbers, which translated into a higher production and systemic flux of T cell subsets. In accordance with APOA1 deficiency-associated priming of stem cells to increase T lymphocyte production, atherogenic diet-fed low-density lipoprotein receptor knockout mice transplanted with bone marrow from APOA1-knockout mice displayed marked lymphocytosis as compared to wild-type bone marrow recipients. However, atherosclerotic lesion sizes and collagen contents were similar in the two groups of bone marrow recipients. In conclusion, systemic lack of APOA1 primes bone marrow stem cells for T cell lymphopoiesis. Our data provide novel evidence for a regulatory role of HDL in bone marrow functioning in normolipidemic mice.
Serum apolipoprotein A-I depletion is causative to silica nanoparticles-induced cardiovascular damage.
The rapid development of nanotechnology has greatly benefited modern science and engineering and also led to an increased environmental exposure to nanoparticles (NPs). While recent research has established a correlation between the exposure of NPs and cardiovascular diseases, the intrinsic mechanisms of such a connection remain unclear. Inhaled NPs can penetrate the air-blood barrier from the lung to systemic circulation, thereby intruding the cardiovascular system and generating cardiotoxic effects. In this study, on-site cardiovascular damage was observed in mice upon respiratory exposure of silica nanoparticles (SiNPs), and the corresponding mechanism was investigated by focusing on the interaction of SiNPs and their encountered biomacromolecules en route. SiNPs were found to collect a significant amount of apolipoprotein A-I (Apo A-I) from the blood, in particular when the SiNPs were preadsorbed with pulmonary surfactants. While the adsorbed Apo A-I ameliorated the cytotoxic and proinflammatory effects of SiNPs, the protein was eliminated from the blood upon clearance of the NPs. However, supplementation of Apo A-I mimic peptide mitigated the atherosclerotic lesion induced by SiNPs. In addition, we found a further declined plasma Apo A-I level in clinical silicosis patients than coronary heart disease patients, suggesting clearance of SiNPs sequestered Apo A-I to compromise the coronal protein's regular biological functions. Together, this study has provided evidence that the protein corona of SiNPs acquired in the blood depletes Apo A-I, a biomarker for prediction of cardiovascular diseases, which gives rise to unexpected toxic effects of the nanoparticles.
The HDL from septic-ARDS patients with composition changes exacerbates pulmonary endothelial dysfunction and acute lung injury induced by cecal ligation and puncture (CLP) in mice.
Septic-acute respiratory distress syndrome (ARDS), characterized by the acute lung injury (ALI) secondary to aberrant systemic inflammatory response, has high morbidity and mortality. Despite increased understanding of ALI pathogenesis, the therapies to prevent lung dysfunction underlying systemic inflammatory disorder remain elusive. The high density lipoprotein (HDL) has critical protective effects in sepsis and its dysfunction has a manifested contribution to septic organ failure. However, the adverse changes in HDL composition and function in septic-ARDS patients are large unknown. To investigate HDL remodeling in septic-ARDS, we analyzed the changes of HDL composition from 40 patients with septic-ARDS (A-HDL) and 40 matched normal controls (N-HDL). To determine the deleterious functional remodeling of HDL, A-HDL or N-HDL was administrated to C57BL/6 and apoA-I knock-out (KO) mice after cecal ligation and puncture (CLP) procedure. Mouse lung microvascular endothelial cells (MLECs) were further treated by these HDLs to investigate whether the adverse effects of A-HDL were associated with endothelial dysfunction. Septic-ARDS patients showed significant changes of HDL composition, accompanied with significantly decreased HDL-C. We further indicated that A-HDL treatment aggravated CLP induced ALI. Intriguingly, these deleterious effects of A-HDL were associated with pulmonary endothelial dysfunction, rather than the increased plasma lipopolysaccharide (LPS). Further in vitro results demonstrated the direct effects of A-HDL on MLECs, including increased endothelial permeability, enhanced expressions of adhesion proteins and pro-inflammatory cytokines via activating NF-κB signaling and decreased junction protein expression. Our results depicted the remodeling of HDL composition in sepsis, which predisposes lung to ARDS via inducing ECs dysfunction. These results also demonstrated the importance of circulating HDL in regulating alveolar homeostasis.
Publicações recentes
Distinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency.
A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation.
Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report.
Apolipoprotein A-I deficiency does not affect biliary lipid secretion and gallstone formation in mice.
Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice.
📚 EuropePMC19 artigos no totalmostrando 25
Apolipoprotein A1 deficiency increases macrophage apoptosis and necrotic core development in atherosclerotic plaques in a Bim-dependent manner.
Journal of lipid researchThe lack of apoA-I in apoE-KO mice affects the liver transcriptome.
Nutrition, metabolism, and cardiovascular diseases : NMCDSerum apolipoprotein A-I depletion is causative to silica nanoparticles-induced cardiovascular damage.
Proceedings of the National Academy of Sciences of the United States of AmericaApolipoprotein A1 deficiency in mice primes bone marrow stem cells for T cell lymphopoiesis.
Journal of cell scienceThe HDL from septic-ARDS patients with composition changes exacerbates pulmonary endothelial dysfunction and acute lung injury induced by cecal ligation and puncture (CLP) in mice.
Respiratory researchSerum amyloid A is not incorporated into HDL during HDL biogenesis.
Journal of lipid researchDistinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency.
Journal of clinical lipidologyImpact of apolipoprotein A1- or lecithin:cholesterol acyltransferase-deficiency on white adipose tissue metabolic activity and glucose homeostasis in mice.
Biochimica et biophysica acta. Molecular basis of diseaseLC-MS-Based Metabolomics and Lipidomics Study of High-Density-Lipoprotein-Modulated Glucose Metabolism with an apoA-I Knockout Mouse Model.
Journal of proteome researchPlasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders.
Biochimica et biophysica acta. Molecular and cell biology of lipidsA case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation.
Journal of clinical lipidologyDepletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency.
Journal of lipid researchSimvastatin treatment aggravates the glucocorticoid insufficiency associated with hypocholesterolemia in mice.
AtherosclerosisCorneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report.
BMC ophthalmologyThe 5A apolipoprotein A-I (apoA-I) mimetic peptide ameliorates experimental colitis by regulating monocyte infiltration.
British journal of pharmacologyType 1 Deiodinase Regulates ApoA-I Gene Expression and ApoA-I Synthesis Independent of Thyroid Hormone Signaling.
Arteriosclerosis, thrombosis, and vascular biologyApolipoprotein A-1 regulates osteoblast and lipoblast precursor cells in mice.
Laboratory investigation; a journal of technical methods and pathologyLipidated APOE has effects on cognitive function that are independent of amyloid-β pathology.
Brain : a journal of neurologyOpposing effects of Apoe/Apoa1 double deletion on amyloid-β pathology and cognitive performance in APP mice.
Brain : a journal of neurologyDyscholesterolemia Protects Against Ischemia-Induced Ventricular Arrhythmias.
Circulation. Arrhythmia and electrophysiologyDeficiency in apolipoprotein A-I ablates the pharmacological effects of metformin on plasma glucose homeostasis and hepatic lipid deposition.
European journal of pharmacologyApolipoprotein A-I inhibits experimental colitis and colitis-propelled carcinogenesis.
OncogeneMyocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.
Journal of clinical lipidologyAssociations of ApoAI and ApoB-containing lipoproteins with AngII-induced abdominal aortic aneurysms in mice.
Arteriosclerosis, thrombosis, and vascular biologyDefective functionality of small, dense HDL3 subpopulations in ST segment elevation myocardial infarction: Relevance of enrichment in lysophosphatidylcholine, phosphatidic acid and serum amyloid A.
Biochimica et biophysica actaAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Deficiência de apolipoproteína A-I e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição é causada por mutações genéticas com herança autossômica dominante, envolvendo principalmente os genes APOA1 e ABCA1. Esses genes são indispensáveis para a fabricação da apolipoproteína A-I e para o transporte das partículas normais de colesterol HDL no organismo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Deficiência de apolipoproteína A-I. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/deficiencia-de-apolipoproteina-a-i
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Deficiência de apolipoproteína A-I
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- Dado público estruturado
- fonte: Wikidata