# Arterite de células gigantes

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

## Identificadores

- **ORPHA**: 397 — https://www.orpha.net/en/disease/detail/397
- **CID-10**: M31.6
- **OMIM**: OMIM:187360 — https://omim.org/entry/187360

## Descrição clínica

A arterite de células gigantes (GCA) é uma vasculite dos grandes vasos envolvendo predominantemente as artérias com origem no arco aórtico e especialmente os ramos extracranianos das artérias carótidas.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Multigenic/multifactorial

## Sinais e sintomas (72 fenótipos HPO)

- **Insuficiência hepática** — HPO: HP:0001399 (Ocasional (29-5%))
- **Herança autossômica dominante** — HPO: HP:0000006
- **Cegueira** — HPO: HP:0000618
- **Arterite retiniana** — HPO: HP:0008030
- **Neuropatia periférica** — HPO: HP:0009830 (Ocasional (29-5%))
- **Ventrículo direito de saída dupla com comunicação interventricular subpulmonar sem estenose pulmonar** — HPO: HP:0011658 (Ocasional (29-5%))
- **Glossite** — HPO: HP:0000206 (Ocasional (29-5%))
- **Perda visual** — HPO: HP:0000572 (Ocasional (29-5%))
- **Hematúria** — HPO: HP:0000790 (Ocasional (29-5%))
- **Insuficiência renal** — HPO: HP:0000083 (Ocasional (29-5%))
- **Defeito do campo visual** — HPO: HP:0001123 (Ocasional (29-5%))
- **Trombose arterial** — HPO: HP:0004420 (Ocasional (29-5%))
- **Vertigem** — HPO: HP:0002321 (Ocasional (29-5%))
- **Depressão** — HPO: HP:0000716 (Frequente (79-30%))
- **Mialgia** — HPO: HP:0003326 (Ocasional (29-5%))
- **Hiperidrose** — HPO: HP:0000975 (Ocasional (29-5%))
- **Artrite poliarticular** — HPO: HP:0005764 (Frequente (79-30%))
- **Tosse não produtiva** — HPO: HP:0031246 (Ocasional (29-5%))
- **Nistagmo** — HPO: HP:0000639 (Ocasional (29-5%))
- **Sensibilidade do couro cabeludo** — HPO: HP:0100809 (Ocasional (29-5%))
- **Diplopia** — HPO: HP:0000651 (Ocasional (29-5%))
- **Arritmia** — HPO: HP:0011675 (Ocasional (29-5%))
- **Mastigação prejudicada** — HPO: HP:0005216 (Muito frequente (99-80%))
- **Aumento da concentração circulante de interleucina 6** — HPO: HP:0030783 (Frequente (79-30%))
- **Pericardite** — HPO: HP:0001701 (Ocasional (29-5%))
- **Dor abdominal** — HPO: HP:0002027 (Ocasional (29-5%))
- **Claudicação da mandíbula** — HPO: HP:0030164 (Frequente (79-30%))
- **Fadiga** — HPO: HP:0012378 (Muito frequente (99-80%))
- **Diabetes insipidus** — HPO: HP:0000873 (Ocasional (29-5%))
- **Perda de peso** — HPO: HP:0001824 (Muito frequente (99-80%))
- **Nível elevado de osteopontina circulante** — HPO: HP:0033123 (Frequente (79-30%))
- **Atrofia óptica** — HPO: HP:0000648 (Ocasional (29-5%))
- **Alopecia** — HPO: HP:0001596 (Frequente (79-30%))
- **Fraqueza muscular** — HPO: HP:0001324 (Ocasional (29-5%))
- **Artralgia** — HPO: HP:0002829 (Ocasional (29-5%))
- **Linfadenopatia mediastinal** — HPO: HP:0100721 (Ocasional (29-5%))
- **Gangrena** — HPO: HP:0100758 (Ocasional (29-5%))
- **Mal-estar** — HPO: HP:0033834 (Frequente (79-30%))
- **Deficiência visual** — HPO: HP:0000505 (Frequente (79-30%))
- **Tosse** — HPO: HP:0012735 (Ocasional (29-5%))
- _...e mais 32 sintomas. Ver https://raras.org/doenca/arterite-de-celulas-gigantes._

## Genes associados (4)

- **HLA-B** — HLA class I histocompatibility antigen, B alpha chain [Major susceptibility factor in]
  - Função: Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells fo
- **P4HA2** — Prolyl 4-hydroxylase subunit alpha-2 [Major susceptibility factor in]
  - Função: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins
- **HLA-DRB1** — HLA class II histocompatibility antigen, DRB1 beta chain [Major susceptibility factor in]
  - Função: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting c
- **PTPN22** — Tyrosine-protein phosphatase non-receptor type 22 [Major susceptibility factor in]
  - Função: Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other k

## Ensaios clínicos ativos (25)

- **NCT07246577** [RECRUITING]: The VGR GCA Cohort: Ultrasound, Biopsy and Biomarkers - Novel Methods for Diagnosis, Monitoring and Prognosis in Giant Cell Arteritis. — https://clinicaltrials.gov/study/NCT07246577
- **NCT07108387** [RECRUITING]: Tocilizumab Discontinuation Versus Dose Reduction for Patients With Well-Controlled Giant Cell Arteritis — https://clinicaltrials.gov/study/NCT07108387
- **NCT02257866** [RECRUITING]: Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis — https://clinicaltrials.gov/study/NCT02257866
- **NCT06894602** [RECRUITING]: Association of Ultrasonographic Temporal Artery Lesions and Relapse in Patients With Giant Cell Arteritis — https://clinicaltrials.gov/study/NCT06894602
- **NCT05435781** [RECRUITING]: Effect of Supplemental Hydrocortisone During Stress in Prednisolone-induced Adrenal Insufficiency — https://clinicaltrials.gov/study/NCT05435781
- **NCT04402086** [RECRUITING]: Rheumatology Patient Registry and Biorepository — https://clinicaltrials.gov/study/NCT04402086
- **NCT04474847** [RECRUITING]: Abatacept for the Treatment of Giant Cell Arteritis — https://clinicaltrials.gov/study/NCT04474847
- **NCT01241305** [RECRUITING]: One-Time DNA Study for Vasculitis — https://clinicaltrials.gov/study/NCT01241305
- **NCT02967068** [RECRUITING]: VCRC Tissue Repository — https://clinicaltrials.gov/study/NCT02967068
- **NCT06887062** [RECRUITING]: Dapagliflozin and Endothelin Receptor Antagonism in Large Vessel Vasculitis (DERAIL-LVV) — https://clinicaltrials.gov/study/NCT06887062

## Doenças relacionadas (por similaridade fenotípica)

- [Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)](https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca) — ORPHA:156152 — 29 sintomas em comum
- [Granulomatose com poliangeíte](https://raras.org/doenca/granulomatose-com-poliangeite) — ORPHA:900 — 26 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 23 sintomas em comum
- [Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita](https://raras.org/doenca/anomalia-dos-grandes-vasos-aorta-arco-aortico-arterias-pulmonares-congenita) — ORPHA:98724 — 23 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 22 sintomas em comum
- [Arterite de Takayasu](https://raras.org/doenca/arterite-de-takayasu) — ORPHA:3287 — 21 sintomas em comum
- [Anomalia do arco aórtico](https://raras.org/doenca/anomalia-do-arco-aortico) — ORPHA:1132 — 21 sintomas em comum
- [Arco aórtico cervical](https://raras.org/doenca/arco-aortico-cervical) — ORPHA:99079 — 21 sintomas em comum
- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 20 sintomas em comum
- [Poliangeíte microscópica](https://raras.org/doenca/poliangeite-microscopica) — ORPHA:727 — 20 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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