Case Report: First Two Identified Cases of Fabry Disease in Central Asia
Cainelli F. Argandykov D. Kaldarbekov D. Mukarov M. Tran Thi Phuong L. Germain D.P.
27 April 2021Frontiers Media S.A.
Frontiers in Genetics
2021#12
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb3) and its derivative globotriaosylsphingosine or lyso-Gb3. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment. Case presentation: We describe two Kazakh patients who presented in adulthood with a delayed diagnosis. We conducted also a family screening through cascade genotyping. Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies. © Copyright
Central Asia , Fabry disease , family screening , genotype-phenotype correlation , Kazakhstan , p.Arg49Gly variant , pedigree
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Raffles Medical Group Clinic, Phnom Penh, Cambodia
Faculty of Medicine, University of Puthisastra, Phnom Penh, Cambodia
Private Practitioner, Nur-Sultan, Kazakhstan
School of Medicine, Nazarbayev University, Nur-Sultan, Kazakhstan
Department of Cardiology, National Research Cardiac Surgery Center, Nur-Sultan, Kazakhstan
French Referral Center for Fabry disease, Garches, France
Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France
Raffles Medical Group Clinic
Faculty of Medicine
Private Practitioner
School of Medicine
Department of Cardiology
French Referral Center for Fabry disease
Division of Medical Genetics
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