# Angioedema hereditário

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

## Identificadores

- **ORPHA**: 91378 — https://www.orpha.net/en/disease/detail/91378
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O angioedema hereditário (AEH) é uma doença genética caracterizada pela ocorrência de edemas subcutâneos e/ou submucosos transitórios e recorrentes, resultando em edema e/ou dor abdominal.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (59 fenótipos HPO)

- **Morfologia anormal da epiglote** — HPO: HP:0005483
- **Eritema** — HPO: HP:0010783
- **Edema do dorso das mãos** — HPO: HP:0007514
- **Diarreia** — HPO: HP:0002014
- **Inchaço articular** — HPO: HP:0001386
- **Edema facial** — HPO: HP:0000282
- **Fadiga** — HPO: HP:0012378
- **Edema não depressível** — HPO: HP:6000507
- **Urticária dermatográfica** — HPO: HP:0011971
- **Edema periorbital** — HPO: HP:0100539
- **Cefaleia** — HPO: HP:0002315
- **Edema muscular** — HPO: HP:0100748
- **Morfologia anormal do sistema respiratório** — HPO: HP:0012252
- **Edema límbico** — HPO: HP:0025349
- **Obstrução episódica das vias aéreas superiores** — HPO: HP:0012271
- **Hemorragia do leito ungueal** — HPO: HP:0030254
- **Edema dos membros superiores** — HPO: HP:0010742
- **Disfagia** — HPO: HP:0002015
- **Fraqueza muscular** — HPO: HP:0001324
- **Atividade circulante reduzida de CH50** — HPO: HP:0025434
- **Prurido** — HPO: HP:0000989
- **Desconforto respiratório** — HPO: HP:0002098
- **Eritema marginado** — HPO: HP:6001012
- **Hipotensão** — HPO: HP:0002615
- **Astenia** — HPO: HP:0025406
- **Voz rouca** — HPO: HP:0001609
- **Hipoestesia** — HPO: HP:0033748
- **Edema faríngeo** — HPO: HP:0011855
- **Dor** — HPO: HP:0012531
- **Erupção cutânea** — HPO: HP:0000988
- **Autoimunidade** — HPO: HP:0002960
- **Náusea e vômito** — HPO: HP:0002017
- **Concentração diminuída de inibidor de C1-esterase circulante** — HPO: HP:0034204
- **Anormalidade da úvula** — HPO: HP:0000172
- **Degeneração axonal** — HPO: HP:0040078
- **Lábio inchado** — HPO: HP:0031244
- **Anormalidade do palato mole** — HPO: HP:0100736
- **Lesão cutânea serpiginosa** — HPO: HP:0025527
- **Tortuosidade capilar da prega ungueal** — HPO: HP:0033250
- **Dispneia** — HPO: HP:0002094
- _...e mais 19 sintomas. Ver https://raras.org/doenca/angioedema-hereditario._

## Genes associados (7)

- **F12** — Coagulation factor XII [Disease-causing germline mutation(s) in]
  - Função: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to f
- **PLG** — Plasminogen [Disease-causing germline mutation(s) in]
  - Função: Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ov
- **SERPING1** — Plasma protease C1 inhibitor [Disease-causing germline mutation(s) in]
  - Função: Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiome
- **KNG1** — Kininogen-1 [Disease-causing germline mutation(s) in]
  - Função: Kininogens are inhibitors of thiol proteases. HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; HMW-kininogen
- **MYOF** — Myoferlin [Disease-causing germline mutation(s) in]
  - Função: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in en
- **ANGPT1** — Angiopoietin-1 [Disease-causing germline mutation(s) in]
  - Função: Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, mi
- **HS3ST6** — Heparan sulfate glucosamine 3-O-sulfotransferase 6 [Disease-causing germline mutation(s) in]
  - Função: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified hepar

## Medicamentos em desenvolvimento (8)

- ECALLANTIDE — Fase Phase 4 (Plasma kallikrein inhibitor)
- ICATIBANT ACETATE — Fase Phase 4 (Bradykinin B2 receptor antagonist)
- HUMAN C1-ESTERASE INHIBITOR — Fase Phase 4 (Coagulation factor XI inhibitor)
- CONESTAT ALFA — Fase Phase 4 (Plasma protease C1 inhibitor exogenous protein)
- LANADELUMAB — Fase Phase 4 (Plasma kallikrein inhibitor)
- AVORALSTAT — Fase Phase 3 (Plasma kallikrein inhibitor)
- TRANEXAMIC ACID — Fase Phase 3 (Plasminogen inhibitor)
- ICATIBANT — Fase Phase 3 (Bradykinin B2 receptor antagonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019623

## Ensaios clínicos ativos (30)

- **NCT07298447** [RECRUITING]: Donidalorsen Treatment in Children With Hereditary Angioedema — https://clinicaltrials.gov/study/NCT07298447
- **NCT06842823** [RECRUITING]: A Study of Navenibart in Participants With Hereditary Angioedema — https://clinicaltrials.gov/study/NCT06842823
- **NCT06806657** [RECRUITING]: Safety Study in Subjects ≥ 12 Years of Age With Hereditary Angioedema Switching to Garadacimab — https://clinicaltrials.gov/study/NCT06806657
- **NCT07001280** [RECRUITING]: A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE) — https://clinicaltrials.gov/study/NCT07001280
- **NCT06679881** [RECRUITING]: Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE — https://clinicaltrials.gov/study/NCT06679881
- **NCT07448181** [RECRUITING]: Real-life Ecological Momentary Assessment of Lived Burden in Hereditary AngioEdema — https://clinicaltrials.gov/study/NCT07448181
- **NCT06960213** [RECRUITING]: STOP-HAE: A Phase 3 Study of ADX-324 in HAE — https://clinicaltrials.gov/study/NCT06960213
- **NCT07251933** [RECRUITING]: A Study of Lanadelumab in Children With Hereditary Angioedema (HAE) in Multiple Countries — https://clinicaltrials.gov/study/NCT07251933
- **NCT06573723** [RECRUITING]: Institutional Registry of Rare Diseases — https://clinicaltrials.gov/study/NCT06573723
- **NCT05396105** [ENROLLING_BY_INVITATION]: Extension Study of Oral PHA-022121 for Acute Treatment of Angioedema Attacks in Patients With Hereditary Angioedema — https://clinicaltrials.gov/study/NCT05396105

## Doenças relacionadas (por similaridade fenotípica)

- [Angioedema hereditário com deficiência C1Inh](https://raras.org/doenca/angioedema-hereditario-com-deficiencia-c1inh) — ORPHA:528623 — 51 sintomas em comum
- [Angioedema hereditário tipo 1](https://raras.org/doenca/angioedema-hereditario-tipo-1) — ORPHA:100050 — 26 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 14 sintomas em comum
- [Mastocitose](https://raras.org/doenca/mastocitose) — ORPHA:98292 — 14 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 14 sintomas em comum
- [Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)](https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca) — ORPHA:156152 — 14 sintomas em comum
- [Dermatose tóxica](https://raras.org/doenca/dermatose-toxica) — ORPHA:293815 — 13 sintomas em comum
- [Angioedema adquirido com C1Inh normal](https://raras.org/doenca/angioedema-adquirido-com-c1inh-normal) — ORPHA:528647 — 13 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 13 sintomas em comum
- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 12 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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**Citação sugerida**: Raras.org — Angioedema hereditário. Disponível em: https://raras.org/doenca/angioedema-hereditario
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