NINDS Lipid Storage Diseases Information Page

Currently there is no specific treatment available for most of the lipid storage disorders, although Gaucher and Fabry diseases have highly effective enzyme replacement therapies.  There is currently no cure for Niemann-Pick disease.  Treatment is supportive.  Doctors often prescribe corticosteroids to relieve the pain of Farber’s disease.  Anticonvulsant medications are often used to control seizures in Tay-Sachs disease.

The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children with Gaucher disease may live well into adulthood, while children with Niemann-Pick disease most often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs disease may eventually need a feeding tube and they often die by age 4 from recurring infection.

The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country.  NINDS researchers were responsible for developing highly effective enzyme replacement therapies for Gaucher and Fabry diseases.  Scientists at the NINDS continue to study how lipids accumulate in cells and why they cause harm to the body.  The goal of this research is to develop novel approaches to the treatment of these disorders.