Rare Diseases

New Data Evaluates Origin of Pain in Gaucher Disease

A study published in the Orphanet Journal of Rare Diseases confirmed the role played by peripheral neuropathy in Gaucher pain.

A team of researchers led by Grazia Devilgili of the AMC Hosptial of Udine’s Department of Neurology conducted a cross-sectional study intended to investigate the pathophysiology and root of pain in Gaucher disease patients, and whether such pain had a skeletal or neuropathic origin.

The clinic observed the recurrence of painful symptoms in a cohort of type 1 Gaucher (GD1) patients even after a long-term enzyme replacement therapy.

Gaucher disease is a rare genetic condition caused by deficiencies in the glucocerebrosidase enzyme, which is responsible for breaking down fatty substances in the body. Consequently, these substances build up in many of the body’s tissues, including in the bones, organs, and bone marrow, preventing cells and organs from functioning properly.

The rare disease can be categorized into 3 different classifications: type 1, type 2, and type 3 (GD1, GD2, and GD3, respectively). Type 1, also known as non-neuropathic Gaucher disease because the brain and spinal cord are typically unaffected. It is the most common variation of the condition and involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia).

Between the 3 types, Gaucher disease affects an estimated 1 in every 50,000-100,000 people and current treatment options can be…