The Impacts of Gaucher Disease on the Skeletal System and the Future of Treatment

According to a story from the National Gaucher Foundation, a significant challenge for many patients with Gaucher disease are the effects that the illness can have on bones. Common treatments for Gaucher disease, such as enzyme replacement therapy, can help relieve many symptoms, but it has minimal effect on the skeletal effects of the illness, and only if treatment is begun early. However, ongoing research could reveal new therapeutic approaches that could help reverse the worst bone-related impacts.

About Gaucher Disease

Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.

How Bone Damage Occurs in Gaucher Disease

Along with the bone related symptoms listed above, patients can also experience other issues, such as deformities, avascular necrosis, and spontaneous fractures. Research suggests that Gaucher disease impacts the skeletal system because it impairs the normal system of bone cell replacement. This means that bone material is destroyed faster than it can be replaced. In addition, the disease may also trigger an abnormal build up of white blood cells and other immune system cells in bones.

Treatment Options

Some possible therapies that could help treat the skeletal effects include bisphosphonates, which are commonly used to treat osteoporosis. Unfortunately, it is unclear if long term treatment with them is safe. Other options may include Forteo, which can help strengthen bone. However, it is known that it can’t be used long term because of side effects and an increased risk of bone cancer. There are also some experimental therapies that could be of use, but data suggests that the risk of side effects is high and they aren’t yet approved for human use.

So what can Gaucher disease patients do right now? Well it is definitely critical that Gaucher disease patients begin enzyme replacement therapy as early as possible in the course of their disease before the worst skeletal effects can appear. This can still slow the progression of bone damage and disease.


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