Information on FCAS1
Basic details
Name: Familial cold inflammatory syndrome 1 | Acronym: FCAS1
Alt. names: familial cold autoinflammatory syndrome
Gene: NLRP3 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-05-17 17:25:50 by Andrés Caballero-Oteyza
Description
It is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).[OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Arthralgia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Conjunctivitis |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Elevated C-reactive protein |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Aphthous oral ulcer |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Arthritis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Renal amyloidosis |
1 (3.9%) | 0 (0.0%) | 25 (96.2%) |
| 8 | Urticaria |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Uveitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Hearing impairment |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.