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Disease Information for Familial Cold Autoinflammatory syndrome/FCAS (1q44).
- Clinical Manifestations
- Signs & Symptoms
- Cold urticaria
- Ice Cube test/Urticaria Abnormal
- Rash
- Excess Thirst in Children
- Arthritis Children
- Cold intolerance
- Cyclic Periodic Recurrent Fevers
- Periodic fever
- Bloodshot eyes/Conjunctival injection
- Eye Pains, Bilateral
- Red Eyes Bilateral
- Scleral Injection
- Disease Progression
- Course/Periodic Episodic
- Onset childhood/young adult/twenties
- Laboratory Tests
- Microbiology & Serology Findings
- Stool Microscopic polys present
- Abnormal Lab Findings (Non Measured)
- Acute phase reactants increased (Lab)
- Abnormal Lab Findings - Increased
- WBC
- Amyloid A serum (Lab)
- C-reactive protein (Lab)
- Interleukin 1 (IL-1) levels (Lab)
- Interleukin-6 IL-6 Serum (Lab)
- Serum Amyloid A (SSA)
- WBC/White Blood Cell Count/Leukocytes (Lab)
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Amyloidosis, renal
- Amyloidosis, systemic
- Arthritis
- Conjunctivitis
- Deafness
- Deafness, sensorineural
- Familial Cold Autoinflammatory syndrome/FCAS (1q44).
- Polyarthritis in Children
- Polyarthritis syndrome/Multiple joints/weeks
- Urticaria, cold/immersion
- Urticaria/hives
- PolyArthritis
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Autoinflammatory (non-immune)
- Pathophysiology/Gene locus 1q44
- Pathophysiology/Gene locus Chromosome 1
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Maternal Chromosome mutation
- Pathophysiology/Auto-Inflammatory Disorder
- Pathophysiology/Excess Interleukin I (IL-1) produced
- Pathophysiology/CIAS1 Gene mutation
- Pathophysiology/CIAS1/NLRP-3 Gene Mutation
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Esoteric disease (example)
- PROCESS/INCIDENCE/Extremely rare disease
- Synonyms
- Synonym
- Familial Cold Autoinflammatory syndrome FCAS (1q44, Synonym/FCAS, Synonym/Muckles Wells Syndrome/FCAS (1q44)
- Treatment
- Drug Therapy - Indication
- RX/Canakinumab (Llaris)
- RX/Rilonacept IL-1 Blocker (Arcalyst)
- Definition
-
Familial Cold Autoinflammatory syndrome/FCAS (1q44); Muckle-Wells syndrome is a rare familial disease with autosomal dominant inheritance, characterized by cold sensitivity and polyarthralgias since childhood, with possible later development of nerve deafness and renal amyloidosis;
recently identified mutation of the CIAS1 gene at chromosome1q44; ncreased sensitivity to cold, dampness or changes in temperature, arthritis and conjunctivitis; hearing loss; renal involvement, and amyloid deposits; three of five; rectal biopsies were performed; Laboratory tests showed leucocytosis and elevated C-reactive protein, [no serum cold agglutinins and cryoglobulins];
Urticaria histology, there was increased vasodilatation, marked infiltration with neutrophils and monocytes/macrophages, and increased expression of beta 2 integrins in lesional vs normal skin; Numbers of mast cells as well as expression of interleukin-3 and tumour necrosis factor-alpha were unchanged; Microscopic features are similar to those observed in other types of cold urticaria;---------[pubmed]----------------
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- External Links Related to Familial Cold Autoinflammatory syndrome/FCAS (1q44).
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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