Premium
Epidemiology of lysosomal storage diseases in Sweden
Author(s) -
Hult Malin,
Darin Niklas,
Döbeln Ulrika,
Månsson JanEric
Publication year - 2014
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.12807
Subject(s) - metachromatic leukodystrophy , medicine , incidence (geometry) , epidemiology , lysosomal storage disease , tay sachs disease , disease , pediatrics , leukodystrophy , sandhoff disease , demography , pathology , physics , sociology , optics
Aim There are more than 50 inherited lysosomal storage diseases ( LSD s), and this study examined the incidence of clinically diagnosed LSD s in Sweden. Methods The number of patients diagnosed during 1980–2009 was compiled from the registries of the two Swedish diagnostic laboratories that cover the whole country. Results We identified 433 patients during the 30‐year period, with a total incidence of one in every 6100 births and identified fairly constant annual diagnoses during the last 20 years. Krabbe disease was the most common (one in 39 000) followed by Gaucher disease (one in 47 000), metachromatic leukodystrophy and Salla disease. Gaucher disease was more frequent in Sweden than other European countries, due to a founder effect of the mutation (p.L444P) in northern Sweden. Metachromatic leukodystrophy was one of the most common LSD s, in common with other countries. Salla disease, which is very rare elsewhere, was the fourth most common, stemming from a founder mutation in the Salla region of northern Finland brought to Sweden by immigration. Conclusion The collective incidence of LSD s in Sweden was essentially equal to other European countries, but with a somewhat different disease pattern. Our findings have implications for diagnostic algorithms and treatment strategies.