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Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey

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Abstract

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.

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Authors and Affiliations

  1. Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey

    Can Huzmeli, Ferhan Candan, Lale Akkaya & Mansur Kayatas

  2. Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey

    Demet Alaygut

  3. Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey

    Gokhan Bagci & Hande Kucuk Kurtulgan

  4. Department of Nutrition and Dietetics, Faculty of Health Sciences, Cumhuriyet University, Sivas, Turkey

    Binnur Bagci

  5. Department of Medical Biochemistry, Faculty of Medicine, Ege University, Izmir, Turkey

    Eser Yıldırım Sozmen

Authors
  1. Can Huzmeli
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  2. Ferhan Candan
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  3. Demet Alaygut
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  4. Gokhan Bagci
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  5. Lale Akkaya
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  6. Binnur Bagci
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  7. Eser Yıldırım Sozmen
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  8. Hande Kucuk Kurtulgan
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  9. Mansur Kayatas
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Correspondence to Gokhan Bagci.

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Huzmeli, C., Candan, F., Alaygut, D. et al. Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey. Biochem Genet 54, 448–456 (2016). https://doi.org/10.1007/s10528-016-9731-3

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  • DOI: https://doi.org/10.1007/s10528-016-9731-3

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