Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that
overlaps with various systemic and rheumatic disorders, including familial
Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and
α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD,
respectively, in 42 unrelated patients diagnosed with FMF, which revealed
significant ambiguity regarding some of the symptoms which are also present in
FD. The objective of this study was to determine the spectrum of mutations
present in these genes, in order to identify cases of mistaken diagnosis of FMF
and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in
homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42
had a single heterozygous mutation, and 12/42 did not have genetic alterations in
MEFV. The analysis of the GLA gene conducted on all the samples revealed that
three subjects, and some members of their families, had two different exonic
mutations associated with FD. Family studies allowed us to identify eight other
cases of FD, bringing the total undiagnosed subjects to 11/53. Analyzing the MEFV
and GLA genes in patients with clinical diagnoses of FMF proved to be
fundamentally important for the reduction of diagnostic errors
