The Face of Lysosomal Storage Disorders in India: A Need for Early Diagnosis

Objectives To study the temporal pattern of lysosomal storage disorders (LSD) from onset of symptoms to the final diagnosis and to study the type and the frequency of the disease. Methods Retrospective analysis of the case record forms of the patients attending the Genetic Clinic over a period of 12 y (January 2002-December 2013) was undertaken. Only the data of the patients who had confirmatory enzyme analysis or mutation study for LSD was further analysed. The age at onset, suspicion of the illness, first clinical presentation to a tertiary Genetic centre, and the age at the final diagnosis of these confirmed cases was noted. Results A total of 5,858 patients were referred to the Genetic clinic in this period. The diagnosis of LSD was suspected in 532 patients (9.08 % of all referrals) and it could be confirmed in 119 cases (2.03 % of all referrals). Maximum patients were diagnosed with Gaucher disease (31.93 %) followed by Mucopolysaccharidoses (20.16 %). Mutation analysis was available in 21 patients (17.64 % of the diagnosed cases). The median time interval between onset and suspicion was 6 mo. The median interval between onset and presentation to the authors' Genetic clinic was 12 mo. The median interval between the onset of the disease and its confirmation was 14 mo. The median interval between presentation to the Genetic centre and diagnosis was barely 1 mo. Conclusions The incidence of LSD at authors' centre was 2.03 %, though it was suspected in 9.08 % of patients. The delay in diagnosis was hugely due to the late suspicion and thereby the late referral to a tertiary centre.