Disease Information for Familial Cold Autoinflammatory syndrome/FCAS (1q44).

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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).
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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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