Screening for Fabry’s disease in a high-risk subpopulation of FMF

Table 3 Distribution in the study group of features favoring the detection of FD

Manifestation/feature	Group	Number (%)
Proteinuria*	A1	27 (16)
Renal failure	A1	5 (3)
Spleen enlargement	A1	16 (9)
Fever only	A1	12 (7)
Incomplete abdominal attacks	A2	16 (9)
Joint involvements which are not typical of FMF	A2	59 (34)
Fibromyalgia-like manifestations	A3	26 (15)
Neuropathy	A3	24 (14)
Cardiomyopathy / atherosclerotic heart disease	A3	14 (8)
Peripheral vascular disease	A3	5 (3)
CNS vascular disease	A3	14 (8)
Absence of mutations in genetic testing	B1	28 (16)
Lack of response to colchicine	B2	112 (65)

^*In 3 patients, tissue biopsy was performed (kidney, gastric and liver), which excluded amyloid deposition. None was read as suspicious of FD, but routine light microscopy (H&E) may fail to detect FD, even retrospectively. All biopsied patients had features in addition to proteinuria that made them eligible for the study (neuropathy and fever in one, colchicine resistance and fever episodes in the second and stroke in young age and colchicine resistance in the third

ISSN: 2047-783X