Study Suggests that Spleen Artery Aneurysms May be more Common in Gaucher Disease than Previously Thought

According to a story from Gaucher Disease News, a recently published case report study suggests that instances of splenic artery aneurysm are being underreported in patients with Gaucher disease. The splenic artery aneurysm is the abnormal widening of the artery the sends blood to the spleen as a result of weakening of the artery wall. The spleen itself is often enlarged in Gaucher disease patients.

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.

About The Study

Two prior studies have reported the presence of spleen artery aneurysms in Gaucher disease. The study investigates five cases of Gaucher disease patients with spleen artery aneurysms. Three of the patients had been using enzyme replacement before their aneurysm was discovered while the other two began the therapy afterwards.

The impact of therapy on the aneurysms varied between patients. The treatment brought down the spleen to regular size. However, one patient saw the size of their aneurysm increase; for two others the state of the aneurysm remained unchanged. Another patient died after the spleen artery aneurysm ruptured. The fifth patient was diagnosed with four separate spleen artery aneurysms and eventually had surgery to remove the organ.

Unfortunately there is no agreed upon method to manage these aneurysms in Gaucher disease patients. While the complication is still considered rare, more study will be necessary in order to determine the best way for physicians to respond to splenic artery aneurysms when they appear.

This study was first published in the Journal of Clinical Medicine.


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