# Urticária induzida pelo frio familiar

> Página oficial: https://raras.org/doenca/urticaria-induzida-pelo-frio-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**: 47045 — https://www.orpha.net/en/disease/detail/47045
- **CID-10**: L50.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A urticária familiar ao frio (FCAS) é a forma mais branda da síndrome periódica associada à criopirina (CAPS) e é caracterizada por episódios recorrentes de erupção cutânea semelhante à urticária, desencadeada pela exposição ao frio associada a febre baixa, mal-estar geral, vermelhidão ocular e artralgia/mialgia.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (46 fenótipos HPO)

- **Eritema** — HPO: HP:0010783 (Muito frequente (99-80%))
- **Desidratação** — HPO: HP:0001944 (Ocasional (29-5%))
- **Febre** — HPO: HP:0001945 (Muito frequente (99-80%))
- **Prurido** — HPO: HP:0000989 (Muito frequente (99-80%))
- **Mialgia** — HPO: HP:0003326 (Muito frequente (99-80%))
- **Fadiga** — HPO: HP:0012378 (Muito frequente (99-80%))
- **Hiperidrose** — HPO: HP:0000975 (Muito frequente (99-80%))
- **Artralgia** — HPO: HP:0002829 (Ocasional (29-5%))
- **Conjuntivite** — HPO: HP:0000509 (Ocasional (29-5%))
- **Urticária** — HPO: HP:0001025 (Muito frequente (99-80%))
- **Cefaleia** — HPO: HP:0002315 (Frequente (79-30%))
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407 (Ocasional (29-5%))
- **Artrite** — HPO: HP:0001369 (Muito frequente (99-80%))
- **Náusea e vômito** — HPO: HP:0002017 (Frequente (79-30%))
- **Disestesia** — HPO: HP:0012534 (Muito frequente (99-80%))
- **Polidipsia** — HPO: HP:0001959 (Ocasional (29-5%))
- **Dor abdominal** — HPO: HP:0002027 (Ocasional (29-5%))
- **Febre recorrente** — HPO: HP:0001954
- **Taxa de sedimentação de eritrócitos elevada** — HPO: HP:0003565
- **Dor no membro inferior** — HPO: HP:0012514
- **Eritema nodoso** — HPO: HP:0012219
- **Estomatite aftosa recorrente** — HPO: HP:0011107
- **Concentração elevada de proteína C-reativa circulante** — HPO: HP:0011227
- **Faringalgia** — HPO: HP:0033050
- **Linfadenopatia** — HPO: HP:0002716
- **Erupção cutânea** — HPO: HP:0000988
- **Esplenomegalia** — HPO: HP:0001744
- **Leucocitose** — HPO: HP:0001974
- **Úlcera aftosa** — HPO: HP:0032154
- **Calafrios** — HPO: HP:0025143
- **Amiloidose renal** — HPO: HP:0001917
- **Urticária ao frio** — HPO: HP:0410135
- **Uveíte** — HPO: HP:0000554
- **Deficiência auditiva** — HPO: HP:0000365
- **Tireoidite de Hashimoto** — HPO: HP:0000872
- **Infecções sinopulmonares recorrentes** — HPO: HP:0005425
- **Vitiligo** — HPO: HP:0001045
- **Asma** — HPO: HP:0002099
- **Positividade do anticorpo antinuclear** — HPO: HP:0003493
- **Rinite alérgica** — HPO: HP:0003193
- _...e mais 6 sintomas. Ver https://raras.org/doenca/urticaria-induzida-pelo-frio-familiar._

## Genes associados (4)

- **NLRP3** — NACHT, LRR and PYD domains-containing protein 3 [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyropt
- **PLCG2** — 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 [Disease-causing germline mutation(s) in]
  - Função: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a cru
- **NLRP12** — NACHT, LRR and PYD domains-containing protein 12 [Disease-causing germline mutation(s) in]
  - Função: Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK a
- **NLRC4** — NLR family CARD domain-containing protein 4 [Disease-causing germline mutation(s) in]
  - Função: Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytoki

## Ensaios clínicos ativos (1)

- **NCT06544018** [RECRUITING]: Circadian Rhythm Deregulation in Patients With CAPS — https://clinicaltrials.gov/study/NCT06544018
- **NCT00887939** [COMPLETED]: Pathogenesis of Physical Induced Urticarial Syndromes — https://clinicaltrials.gov/study/NCT00887939
- **NCT04868968** [COMPLETED]: Study of Safety, Tolerability and Efficacy of DFV890 in Participants With Familial Cold Auto-inflammatory Syndrome (FCAS) — https://clinicaltrials.gov/study/NCT04868968
- **NCT00214851** [COMPLETED]: The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria — https://clinicaltrials.gov/study/NCT00214851
- **NCT00991146** [COMPLETED]: Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase — https://clinicaltrials.gov/study/NCT00991146
- **NCT01576367** [COMPLETED]: Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease — https://clinicaltrials.gov/study/NCT01576367
- **NCT01302860** [COMPLETED]: Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease — https://clinicaltrials.gov/study/NCT01302860
- **NCT00685373** [COMPLETED]: Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease — https://clinicaltrials.gov/study/NCT00685373
- **NCT01213641** [COMPLETED]: Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients — https://clinicaltrials.gov/study/NCT01213641
- **NCT00288704** [COMPLETED]: Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) — https://clinicaltrials.gov/study/NCT00288704

## Doenças relacionadas (por similaridade fenotípica)

- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 46 sintomas em comum
- [Agamaglobulinemia sindromática](https://raras.org/doenca/agamaglobulinemia-sindromatica) — ORPHA:229720 — 19 sintomas em comum
- [Doença de Still de início no adulto](https://raras.org/doenca/doenca-de-still-de-inicio-no-adulto) — ORPHA:829 — 18 sintomas em comum
- [Síndrome de febre periódica hereditária associada a NLRP12](https://raras.org/doenca/sindrome-de-febre-periodica-hereditaria-associada-a-nlrp12) — ORPHA:247868 — 18 sintomas em comum
- [Febre mediterrânica familiar](https://raras.org/doenca/febre-mediterranica-familiar) — ORPHA:342 — 18 sintomas em comum
- [Síndrome Muckle-Wells](https://raras.org/doenca/sindrome-muckle-wells) — ORPHA:575 — 18 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 17 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 17 sintomas em comum
- [Síndrome CINCA](https://raras.org/doenca/sindrome-cinca) — ORPHA:1451 — 17 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 — 17 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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