Lipid Storage Diseases
Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (called lipids) accumulate in some of the body’s cells and tissues. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow. Lipid storage diseases are inherited from one or both parents who carry a defective gene. Symptoms may appear early in life or develop in the teen or even adult years. Neurological complications of the lipid storage diseases may include ataxia, eye paralysis, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, burning pain in the arms and legs, and clouding of the cornea.
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.
Prepared by the National Institutes of Health