# Lipodistrofia parcial adquirida

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

## Identificadores

- **ORPHA**: 79087 — https://www.orpha.net/en/disease/detail/79087
- **CID-10**: E88.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Lipodistrofia caracterizada pela associação de lipoatrofia da parte superior do corpo e lipohipertrofia das coxas.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Multigenic/multifactorial, Not applicable

## Sinais e sintomas (17 fenótipos HPO)

- **Lipoatrofia** — HPO: HP:0100578 (Muito frequente (99-80%))
- **Convulsão** — HPO: HP:0001250 (Frequente (79-30%))
- **Aparência facial progeroide** — HPO: HP:0005328 (Frequente (79-30%))
- **Glomerulopatia** — HPO: HP:0100820 (Ocasional (29-5%))
- **Esteatose hepática** — HPO: HP:0001397 (Ocasional (29-5%))
- **Concentração diminuída de complemento C3 circulante** — HPO: HP:0005421 (Frequente (79-30%))
- **Proteinúria** — HPO: HP:0000093 (Ocasional (29-5%))
- **Resistência à insulina** — HPO: HP:0000855 (Ocasional (29-5%))
- **Linfocitose** — HPO: HP:0100827 (Frequente (79-30%))
- **Deficiência intelectual** — HPO: HP:0001249 (Frequente (79-30%))
- **Deficiência auditiva** — HPO: HP:0000365 (Frequente (79-30%))
- **Imunodeficiência** — HPO: HP:0002721 (Ocasional (29-5%))
- **Autoimunidade** — HPO: HP:0002960 (Frequente (79-30%))
- **Miopatia** — HPO: HP:0003198 (Frequente (79-30%))
- **Hematúria microscópica** — HPO: HP:0002907 (Ocasional (29-5%))
- **Artralgia** — HPO: HP:0002829 (Ocasional (29-5%))
- **Hirsutismo generalizado** — HPO: HP:0002230 (Ocasional (29-5%))

## Genes associados (1)

- **LMNB2** — Lamin-B2 [Major susceptibility factor 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 (10)

- **NCT05470504** [RECRUITING]: Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance — https://clinicaltrials.gov/study/NCT05470504
- **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
- **NCT02325674** [RECRUITING]: MEASuRE: Metreleptin Effectiveness And Safety Registry — https://clinicaltrials.gov/study/NCT02325674
- **NCT07091734** [RECRUITING]: Tirzepatide for Partial Lipodystrophy Treatment: A New Horizon in 2024 — https://clinicaltrials.gov/study/NCT07091734
- **NCT06484868** [RECRUITING]: Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT06484868
- **NCT03900286** [RECRUITING]: Low Energy Diet and Familial Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT03900286
- **NCT02262806** [ACTIVE_NOT_RECRUITING]: Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy — https://clinicaltrials.gov/study/NCT02262806
- **NCT05164341** [ACTIVE_NOT_RECRUITING]: Study to Evaluate the Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects With PL — https://clinicaltrials.gov/study/NCT05164341
- **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

## Doenças relacionadas (por similaridade fenotípica)

- [Lipodistrofia adquirida](https://raras.org/doenca/lipodistrofia-adquirida) — ORPHA:98307 — 17 sintomas em comum
- [Lipodistrofia parcial familiar](https://raras.org/doenca/lipodistrofia-parcial-familiar) — ORPHA:98306 — 9 sintomas em comum
- [Deleção parcial do cromossomo X](https://raras.org/doenca/delecao-parcial-do-cromossomo-x) — ORPHA:263726 — 7 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 7 sintomas em comum
- [Lipodistrofia parcial familiar, tipo Dunnigan](https://raras.org/doenca/lipodistrofia-parcial-familiar-tipo-dunnigan) — ORPHA:2348 — 7 sintomas em comum
- [Lipodistrofia generalizada adquirida](https://raras.org/doenca/lipodistrofia-generalizada-adquirida) — ORPHA:79086 — 7 sintomas em comum
- [Síndrome de deleção 1p36](https://raras.org/doenca/sindrome-de-delecao-1p36) — ORPHA:1606 — 6 sintomas em comum
- [Laminopatia lipodistrófica grave autossômica semidominante](https://raras.org/doenca/laminopatia-lipodistrofica-grave-autossomica-semidominante) — ORPHA:280365 — 6 sintomas em comum
- [Hipoglicemia hiperinsulinêmica](https://raras.org/doenca/hipoglicemia-hiperinsulinemica) — ORPHA:443095 — 6 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 6 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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