The authors declare that they have no competing interests.
Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease
Article first published online: 20 AUG 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 6, pages 576–581, June 2013
How to Cite
Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease., , , , , , , , .
- Issue published online: 23 APR 2013
- Article first published online: 20 AUG 2012
- Accepted manuscript online: 27 JUL 2012 06:33AM EST
- Manuscript Accepted: 23 JUL 2012
- Manuscript Revised: 13 JUL 2012
- Manuscript Received: 23 MAY 2012
- Shire Italia–Human Genetic Therapies
- Fabry disease;
- familial Mediterranean fever;
- α-galactosidase A
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.