From: Screening for Fabry’s disease in a high-risk subpopulation of FMF
Category | Group | Manifestation / feature | Definition of the manifestation / feature |
---|---|---|---|
A. Overlapping manifestations | A1. Typical manifestations of FMF | Proteinuria or kidney function impairment | Of unknown cause. Amyloid nephropathy was excluded by tissue biopsy, or atypical clinical course* |
Splenomegaly | Long axis is more than 13 cm by US imaging | ||
Recurrent episodes with fever alone | Unexplained fever episodes, not accompanied by abdominal, chest or joint pain, may be accompanied by constitutional manifestations** | ||
A2. Incomplete manifestations of FMF | Abdominal pain | Afebrile attacks, localized rather than diffused pain, longer than a week | |
Joint involvement | Arthralgia, afebrile episodes, long duration (> week) | ||
A3. Manifestations of FMF comorbidities or colchicine adverse effects | Ischemic cardiovascular disease | MI, TIA, CVA in patients younger than 50 years | |
Fibromyalgia-like pain | Particularly limb pain and generalized pain, without explanation, therefore labeled fibromyalgia | ||
Neuropathic pain | Including numbness paresthesia, burning pain without explanation | ||
B. Features diverting the FMF from typical presentation | B1. Genetic testing | Genetic negative FMF | Absence of at least 5 most common MEFV mutations (M694V, V726A, E148Q, M680I, M694I) |
B2. Treatment experience | Colchicine failure | Lack of FMF response to at least 2 mg/day of colchicine, excluding intolerance or allergy to colchicine |