Lipid storage disease, aka lipidoses, is not a single health condition, but are a group of inherited metabolic disorders. These lipid related disorders are marked by excessive lipid levels accumulating in your cells and tissues. And over time, this excess can cause permanent damage, especially to your brain, peripheral nervous system, liver, spleen and bone marrow.
Lipid storage disease’s harmful amount of lipids is caused by the insufficiency of enzymes needed to metabolize lipids or the enzymes that are produced don’t work properly. Lipids are important substances because they are part of your cell membranes and myelin sheath around nerves. Examples of lipids are:
- oils
- waxes
- fatty acids
- steroids ~ cholesterol, estrogen
Lipidoses symptoms may appear early in life or develop later. These metabolic lipid disorders can cause various neurological issues, like:
- ataxia
- seizures
- spasticity
- eye paralysis
- slurred speech
- muscle atrophy
- cornea clouding
- learning problems
- brain degeneration
- swallowing difficulties
- hypersensitivity to touch
- burning pain in arms & legs
The various types of lipid storage diseases include:
- Fabry disease
- Krabbe disease
- Farber’s disease
- Gaucher disease
- Sandhoff disease
- Wolman’s disease
- Tay-Sachs disease
- Niemann-Pick disease
Gaucher disease is the most common type of metabolic lipid disorder.
At this time there very little treatment available for most of the lipid storage disorders. Some of the treatments used to combat lipidoses’ excessive lipid levels symptoms are:
- enzyme replacement therapy
- anticonvulsants control seizures
- corticosteroids to relieve the pain
Some of the causes of premature death from various lipid storage disorders are heart disease, renal failure, stroke or recurring infection.