Fabry disease in familial Mediterranean fever according to the severity of the disease

Objectives

Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases including familial Mediterranean fever (FMF). The aim of this study was to determine the frequency of FD in patients with mild and severe FMF and to prevent misdiagnosis by increasing clinicians’ awareness.

Methods

Based on Tel-Hashomer criteria, the study included a total of 91 FMF patients. Patients were divided into two groups according to the number of recurrent clinical episodes or failure to respond to maximum therapy: those with mild and severe forms of the disease. GLA gene mutations and α-GLA enzyme activity were assessed. Records of MEFV mutations, therapies and demographic characteristics were kept.

Results

FD testing was performed on a cohort of 91 FMF patients, 54.9% had mild FMF, 45.1% had severe FMF, and only one patient in the mild FMF subgroup tested positive for FD. The patient was a 39-year-old woman with a history of recurrent abdominal pain, distal limb pain and fever. She had low GLA enzyme activity and a heterozygous GLA gene mutation.

Conclusions

Our findings suggest that FD should be considered in the differential diagnosis of FMF, especially in individuals with unusual symptoms.