Lysosomal Storage Disorders

There are more than 40 diseases classified as lysosomal storage disorders (LSDs), each resulting from an inherited monogenetic defect that causes a specific enzymatic deficiency or malfunction, resulting in accumulation of some substrate in cell lysosomes. In addition to Gaucher disease, other LSDs include Tay-Sachs disease, Mucopolysaccharidoses, and Fabry disease.

While individually most of these diseases are rare, as a group their incidence is about 1 in 7,700 live births[1] [2] -higher than many physicians may realize.

Most LSDs can present across a continuum of clinical severity. They are all progressive in nature and may cause multi-systemic, irreversible damage that can be seriously debilitating and even life-threatening. Thus early identification, diagnosis, and optimal intervention are essential.

LSDs require a multidisciplinary approach to care, including disease-specific treatment options available for some LSDs and general medical management.


References:

1. Meikle, PJ, et al. Prevalence of Lysosomal Storage Disorders. JAMA; 1999: 281: 249-254.

2. Hopkin R, Grabowski GA. Chapter 361. Lysosomal Storage Diseases. In: Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine, 18e. New York, NY: McGraw-Hill; 2012. http://accessmedicine.mhmedical.com/content.aspx?bookid=331&Sectionid=40727168.

Gaucher Cells

Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry ยป