# Colangite biliar primária

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

## Identificadores

- **ORPHA**: 186 — https://www.orpha.net/en/disease/detail/186
- **CID-10**: K74.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A colangite biliar primária (CBP) é uma doença crônica e de progressão lenta do fígado, causada por um problema autoimune. Ela se caracteriza por um dano nos pequenos canais que transportam a bile dentro do fígado, o que pode, com o tempo, levar à falência do fígado.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Multigenic/multifactorial, Unknown

## Sinais e sintomas (41 fenótipos HPO)

- **Inflamação gastrointestinal** — HPO: HP:0004386 (Raro (<5%))
- **Doença celíaca** — HPO: HP:0002608 (Ocasional (29-5%))
- **Positividade do anticorpo antinuclear** — HPO: HP:0003493 (Frequente (79-30%))
- **Ascite** — HPO: HP:0001541 (Ocasional (29-5%))
- **Positividade do anticorpo antimitochondrial** — HPO: HP:0030167 (Muito frequente (99-80%))
- **Cirrose** — HPO: HP:0001394 (Muito frequente (99-80%))
- **Fadiga** — HPO: HP:0012378 (Ocasional (29-5%))
- **Anormalidade do ducto biliar intra-hepático** — HPO: HP:0011040 (Frequente (79-30%))
- **Insuficiência hepática** — HPO: HP:0001399 (Frequente (79-30%))
- **Osteoporose** — HPO: HP:0000939 (Ocasional (29-5%))
- **Hiperpigmentação da pele** — HPO: HP:0000953 (Muito frequente (99-80%))
- **Encefalopatia hepática** — HPO: HP:0002480 (Ocasional (29-5%))
- **Sonolência diurna excessiva** — HPO: HP:0001262 (Ocasional (29-5%))
- **Distensão abdominal** — HPO: HP:0003270 (Ocasional (29-5%))
- **Autoimunidade** — HPO: HP:0002960 (Frequente (79-30%))
- **Icterícia** — HPO: HP:0000952 (Frequente (79-30%))
- **Cirrose biliar** — HPO: HP:0002613 (Muito frequente (99-80%))
- **Hipoalbuminemia** — HPO: HP:0003073 (Ocasional (29-5%))
- **Fibrose hepática** — HPO: HP:0001395 (Frequente (79-30%))
- **Nível elevado de gama-glutamiltransferase** — HPO: HP:0030948 (Frequente (79-30%))
- **Urticária dermatográfica** — HPO: HP:0011971 (Muito frequente (99-80%))
- **Esplenomegalia** — HPO: HP:0001744 (Ocasional (29-5%))
- **Carcinoma hepatocelular** — HPO: HP:0001402 (Frequente (79-30%))
- **Anormalidade do sono** — HPO: HP:0002360 (Ocasional (29-5%))
- **Hepatite** — HPO: HP:0012115 (Ocasional (29-5%))
- **Xantelasma** — HPO: HP:0001114 (Frequente (79-30%))
- **Concentração elevada de fosfatase alcalina circulante** — HPO: HP:0003155 (Frequente (79-30%))
- **Hipercolesterolemia** — HPO: HP:0003124 (Frequente (79-30%))
- **Hepatomegalia** — HPO: HP:0002240 (Frequente (79-30%))
- **Hipotensão ortostática** — HPO: HP:0001278 (Frequente (79-30%))
- **Prurido** — HPO: HP:0000989 (Frequente (79-30%))
- **Anormalidade da glândula tireoide** — HPO: HP:0000820 (Frequente (79-30%))
- **Hipertensão portal** — HPO: HP:0001409 (Frequente (79-30%))
- **Onicomicose** — HPO: HP:0012203 (Frequente (79-30%))
- **Concentração anormal de lipídios circulantes** — HPO: HP:0003119 (Frequente (79-30%))
- **Hiperbilirrubinemia conjugada** — HPO: HP:0002908 (Muito frequente (99-80%))
- **Infecções fúngicas recorrentes** — HPO: HP:0002841 (Frequente (79-30%))
- **Variz esofágica** — HPO: HP:0002040 (Ocasional (29-5%))
- **Esteatorreia** — HPO: HP:0002570 (Ocasional (29-5%))
- **Aumento do nível circulante de IgA** — HPO: HP:0003261 (Ocasional (29-5%))
- _...e mais 1 sintomas. Ver https://raras.org/doenca/colangite-biliar-primaria._

## Genes associados (8)

- **IRF5** — Interferon regulatory factor 5 [Major susceptibility factor in]
  - Função: Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like re
- **IL12RB1** — Interleukin-12 receptor subunit beta-1 [Major susceptibility factor in]
  - Função: Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12.
- **IL12A** — Interleukin-12 subunit alpha [Major susceptibility factor in]
  - Função: Heterodimerizes with IL12B to form the IL-12 cytokine or with EBI3/IL27B to form the IL-35 cytokine (PubMed:8605935, PubMed:8943050). IL-12 is primarily produced by professional antigen-presenting cel
- **TNPO3** — Transportin-3 [Major susceptibility factor in]
  - Função: Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing
- **SPIB** — Transcription factor Spi-B [Major susceptibility factor in]
  - Função: Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dend
- **POU2AF1** — POU domain class 2-associating factor 1 [Major susceptibility factor in]
  - Função: Transcriptional coactivator that specifically associates with either POU2F1/OCT1 or POU2F2/OCT2 (PubMed:7859290). It boosts the POU2F1/OCT1 mediated promoter activity and to a lesser extent, that of P
- **MMEL1** — Membrane metallo-endopeptidase-like 1 [Major susceptibility factor in]
  - Função: Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for pept
- **TNFSF15** — Tumor necrosis factor ligand superfamily member 15 [Major susceptibility factor in]
  - Função: Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis

## Ensaios clínicos ativos (34)

- **NCT05050136** [RECRUITING]: A Study to Evaluate Efficacy and Safety of an Investigational Drug Named Volixibat in Patients With Itching Caused by Primary Biliary Cholangitis — https://clinicaltrials.gov/study/NCT05050136
- **NCT06016842** [RECRUITING]: A Long-Term Study of Elafibranor in Adult Participants With Primary Biliary Cholangitis — https://clinicaltrials.gov/study/NCT06016842
- **NCT06051617** [RECRUITING]: Seladelpar in Subjects With Primary Biliary Cholangitis (PBC) and Compensated Cirrhosis — https://clinicaltrials.gov/study/NCT06051617
- **NCT06447168** [RECRUITING]: A Study Observing Everyday Effectiveness and Safety of the Drug Elafibranor in Participants With Primary Biliary Cholangitis Who Are Receiving Ongoing Treatment — https://clinicaltrials.gov/study/NCT06447168
- **NCT06519162** [RECRUITING]: Liver-gut Axis Study Through Identification of Liver Disease-specific Microbiome — https://clinicaltrials.gov/study/NCT06519162
- **NCT07304843** [RECRUITING]: A Two-part Study to Investigate the Effects in Adults of Two Doses of Golexanolone in Patients With Primary Biliary Cholangitis (PBC) With Fatigue and Cognitive Dysfunction — https://clinicaltrials.gov/study/NCT07304843
- **NCT07449793** [RECRUITING]: Biochemical Response and Clinical Outcomes in Patients With PBC — https://clinicaltrials.gov/study/NCT07449793
- **NCT03445585** [RECRUITING]: Biobank for Cholestatic Liver Diseases. — https://clinicaltrials.gov/study/NCT03445585
- **NCT06427395** [RECRUITING]: Open-Label Extension Study of Saroglitazar Magnesium in Participants With Primary Biliary Cholangitis — https://clinicaltrials.gov/study/NCT06427395
- **NCT06755151** [RECRUITING]: Fenofibrate in Primary Biliary Cholangitis: a Real World Study — https://clinicaltrials.gov/study/NCT06755151

## Doenças relacionadas (por similaridade fenotípica)

- [Colangite esclerosante](https://raras.org/doenca/colangite-esclerosante) — ORPHA:447771 — 18 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 18 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 18 sintomas em comum
- [Colestase intra-hepática progressiva familiar](https://raras.org/doenca/colestase-intra-hepatica-progressiva-familiar) — ORPHA:172 — 17 sintomas em comum
- [Deficiência de lipase ácida lisossomal](https://raras.org/doenca/deficiencia-de-lipase-acida-lisossomal) — ORPHA:275761 — 16 sintomas em comum
- [Colangite esclerosante primária](https://raras.org/doenca/colangite-esclerosante-primaria) — ORPHA:171 — 15 sintomas em comum
- [Citrulinemia](https://raras.org/doenca/citrulinemia) — ORPHA:187 — 14 sintomas em comum
- [Defeito congênito da síntese de ácidos biliares](https://raras.org/doenca/485631) — ORPHA:485631 — 14 sintomas em comum
- [Doença de Wilson](https://raras.org/doenca/doenca-de-wilson) — ORPHA:905 — 13 sintomas em comum
- [Hepatite autoimune](https://raras.org/doenca/hepatite-autoimune) — ORPHA:2137 — 13 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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