# Hiperquilomicronemia familiar

> Página oficial: https://raras.org/doenca/hiperquilomicronemia-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**: 444490 — https://www.orpha.net/en/disease/detail/444490
- **CID-10**: E78.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Hiperlipidemia genética rara caracterizada por aumento excessivo dos níveis plasmáticos de triglicéridos devido à acumulação de quilomícrons, que se manifesta bioquimicamente como hipertrigliceridemia grave. As manifestações clínicas incluem episódios recorrentes de pancreatite aguda, dor abdominal, náusea, fadiga, diarreia, hepatoesplenomegalia, xantomas eruptivos, lipemia retinalis e atraso de crescimento. As crianças podem ser assintomáticas com início tardio dos sintomas. A doença não se associa a aterosclerose grave.

## Epidemiologia e herança

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

## Sinais e sintomas (39 fenótipos HPO)

- **Lipemia retinalis** — HPO: HP:0000660 (Muito frequente (99-80%))
- **Embolia pulmonar** — HPO: HP:0002204 (Raro (<5%))
- **Abscesso perianal** — HPO: HP:0009789 (Raro (<5%))
- **Icterícia** — HPO: HP:0000952 (Raro (<5%))
- **Hipertrigliceridemia** — HPO: HP:0002155
- **Comprometimento da memória** — HPO: HP:0002354 (Raro (<5%))
- **Xantomas eruptivos** — HPO: HP:0001013 (Frequente (79-30%))
- **Hiperquilomicronemia** — HPO: HP:0012238
- **Pancreatite recorrente** — HPO: HP:0100027 (Muito frequente (99-80%))
- **Demência** — HPO: HP:0000726 (Raro (<5%))
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Muito frequente (99-80%))
- **Dor abdominal episódica** — HPO: HP:0002574 (Muito frequente (99-80%))
- **Déficit de crescimento** — HPO: HP:0001508 (Ocasional (29-5%))
- **Depressão** — HPO: HP:0000716 (Raro (<5%))
- **Diabetes mellitus** — HPO: HP:0000819 (Raro (<5%))
- **Aterosclerose precoce** — HPO: HP:0004416
- **Comportamento anormal de emoção/afeto** — HPO: HP:0100851 (Raro (<5%))
- **Hiperlipidemia** — HPO: HP:0003077
- **Náusea e vômito** — HPO: HP:0002017 (Ocasional (29-5%))
- **Pancreatite aguda** — HPO: HP:0001735 (Muito frequente (99-80%))
- **Esteatose hepática** — HPO: HP:0001397 (Frequente (79-30%))
- **Peso corporal diminuído** — HPO: HP:0004325 (Ocasional (29-5%))
- **Hiperlipoproteinemia** — HPO: HP:0010980
- **Dor abdominal** — HPO: HP:0002027
- **Esplenomegalia** — HPO: HP:0001744
- **Pancreatite** — HPO: HP:0001733
- **Xantoma tuberoso** — HPO: HP:0031290
- **Náusea** — HPO: HP:0002018
- **Diabetes mellitus tipo 2** — HPO: HP:0005978
- **Lipodistrofia** — HPO: HP:0009125
- **Hipercolesterolemia** — HPO: HP:0003124
- **Hepatomegalia** — HPO: HP:0002240
- **Concentração diminuída de apolipoproteína C-II circulante** — HPO: HP:0033983
- **Vômitos** — HPO: HP:0002013
- **Soro lactescente** — HPO: HP:0031028
- **Colite** — HPO: HP:0002583
- **Concentração diminuída de colesterol HDL** — HPO: HP:0003233
- **Concentração diminuída de colesterol LDL** — HPO: HP:0003563
- **Aterosclerose prematura da artéria coronária** — HPO: HP:0005181

## Genes associados (4)

- **LPL** — Lipoprotein lipase [Disease-causing germline mutation(s) in]
  - Função: Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid cl
- **GPIHBP1** — Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the
- **APOC2** — Apolipoprotein C-II [Disease-causing germline mutation(s) in]
  - Função: Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an
- **LMF1** — Lipase maturation factor 1 [Disease-causing germline mutation(s) in]
  - Função: Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule

## Ensaios clínicos ativos (5)

- **NCT07176923** [RECRUITING]: CS-121 APOC3 Base Editing in FCS — https://clinicaltrials.gov/study/NCT07176923
- **NCT05089084** [ACTIVE_NOT_RECRUITING]: Study of ARO-APOC3 (Plozasiran) in Adults With Familial Chylomicronemia Syndrome (FCS) — https://clinicaltrials.gov/study/NCT05089084
- **NCT06471543** [ACTIVE_NOT_RECRUITING]: Study of RN0361in Adult Healthy Subjects and Adult Hypertriglyceridemic Subjects — https://clinicaltrials.gov/study/NCT06471543
- **NCT05130450** [ACTIVE_NOT_RECRUITING]: A Study of Olezarsen (Formerly Known as AKCEA-APOCIII-LRx) in Participants With Familial Chylomicronemia Syndrome (FCS) — https://clinicaltrials.gov/study/NCT05130450
- **NCT05185843** [ACTIVE_NOT_RECRUITING]: A Study of Olezarsen (Formerly Known as AKCEA-APOCIII-LRX) Administered to Adults With Familial Chylomicronemia Syndrome (FCS) Previously Treated With Volanesorsen — https://clinicaltrials.gov/study/NCT05185843
- **NCT06796426** [AVAILABLE]: Treatment Protocol of Plozasiran in Adults With High-Risk Severe Hypertriglyceridemia (SHTG) and in Adults and Adolescents With FCS — https://clinicaltrials.gov/study/NCT06796426
- **NCT05902598** [COMPLETED]: A Phase 3 Study of ARO-APOC3 / VSA001 / SAR449124 (Plozasiran) in Chinese Adults With Familial Chylomicronemia Syndrome — https://clinicaltrials.gov/study/NCT05902598
- **NCT03783377** [COMPLETED]: Study of ARO-APOC3 in Healthy Volunteers, Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome (FCS) — https://clinicaltrials.gov/study/NCT03783377
- **NCT04568434** [COMPLETED]: A Study of Olezarsen (Formerly Known as AKCEA-APOCIII-LRx) Administered to Patients With Familial Chylomicronemia Syndrome (FCS) — https://clinicaltrials.gov/study/NCT04568434
- **NCT06360237** [APPROVED_FOR_MARKETING]: Olezarsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) — https://clinicaltrials.gov/study/NCT06360237

## Doenças relacionadas (por similaridade fenotípica)

- [Lipodistrofia parcial familiar](https://raras.org/doenca/lipodistrofia-parcial-familiar) — ORPHA:98306 — 15 sintomas em comum
- [Deficiência de lipase lipoproteica, forma familiar](https://raras.org/doenca/deficiencia-de-lipase-lipoproteica-forma-familiar) — ORPHA:309015 — 14 sintomas em comum
- [Deficiência de GPIHBP1 familiar](https://raras.org/doenca/deficiencia-de-gpihbp1-familiar) — ORPHA:535458 — 14 sintomas em comum
- [Lipodistrofia parcial familiar, tipo Dunnigan](https://raras.org/doenca/lipodistrofia-parcial-familiar-tipo-dunnigan) — ORPHA:2348 — 13 sintomas em comum
- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 13 sintomas em comum
- [Deficiência de lipase ácida lisossomal](https://raras.org/doenca/deficiencia-de-lipase-acida-lisossomal) — ORPHA:275761 — 13 sintomas em comum
- [Citrulinemia](https://raras.org/doenca/citrulinemia) — ORPHA:187 — 12 sintomas em comum
- [Deficiência de citrina](https://raras.org/doenca/deficiencia-de-citrina) — ORPHA:247582 — 12 sintomas em comum
- [Disbetalipoproteinemia](https://raras.org/doenca/disbetalipoproteinemia) — ORPHA:412 — 11 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 11 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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