Open AccessFabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Author(s) -
Nampoothiri Sheela,
Yesodharan Dhanya,
Bhattacherjee Amrita,
Ahamed Hisham,
Puri Ratna Dua,
Gupta Neerja,
Kabra Madhulika,
Ranganath Prajnya,
Bhat Meenakshi,
Phadke Shubha,
Radha Rama Devi Akella,
Jagadeesh Sujatha,
Danda Sumita,
Sylaja Padmavathy Narayana,
Mandal Kausik,
BijarniaMahay Sunita,
Makkar Ravinder,
Verma Ishwar Chander,
Dalal Ashwin,
Ramaswami Uma
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12156
Subject(s) - medicine , fabry disease , enzyme replacement therapy , disease , stroke (engine) , family history , pediatrics , cohort , compound heterozygosity , kidney disease , cardiomyopathy , heart failure , mutation , mechanical engineering , biochemistry , chemistry , engineering , gene
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33 GLA gene variants were identified in 49/54 (90.7%) which included 11 novel and 22 known pathogenic variants. Of the 54 patients in our cohort, 40 patients had “classical” and 10 patients had a “nonclassical” presentation. The symptoms and signs included kidney dysfunction in 38/54 (70.3%), neuropathic pain in 34/54 (62.9%), left ventricular hypertrophy in 22/49 (44.8%) and stroke in 5/54 (9.2%). Female heterozygotes were 10/54 (18.5%) of whom 2 were index cases. There was a significant delay in reaching the diagnosis of 11.7 years. Enzyme replacement therapy was initiated in 28/54 (51.8%) patients with significant improvement of neuropathic pain and gastrointestinal symptoms. This study highlights the clinical presentation and mutational spectrum of FD in India and suggests that family screening and screening of high‐risk groups (hypertrophic cardiomyopathy, idiopathic chronic renal failure and cryptogenic stroke) could be the most cost‐effective strategies for early identification of FD.