International Gaucher Day, is celebrated annually on 1 October to raise awareness for Gaucher disease, but what is Gaucher disease?

Gaucher disease is a rare disease named after Philippe Charles Ernest Gaucher who discovered the disease in a 32-year-old woman who had an enlarged spleen.

At the time, Gaucher thought it to be a form of splenetic cancer and published his findings in his doctorate. It was not until 1965 that the true biochemical nature of Gaucher disease was properly understood.

What is Gaucher disease?

According to the National Gaucher Foundation in the US, people with Gaucher disease have low levels of glucocerebrosidase, an enzyme that breaks down a fatty chemical in the body called glucocerebroside.

Unprocessed glucocerebroside accumulates in the spleen, liver and bone marrow causing organ inflammation and dysfunction.

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What are the symptoms?

Gaucher disease symptoms and signs include:

  • Enlarged spleen and liver
  • Low platelet count
  • Bleeding and clotting problems
  • Anaemia
  • Fatigue
  • Respiratory problems
  • Bone pain and bone infarction
  • Osteopenia, osteoporosis and spontaneous fractures
  • Joint pain, arthritis and joint damage

People with Gaucher disease may have an increased risk of developing Parkinson disease, osteoporosis and some cancer types, including liver cancer and myeloma (a blood cancer).

How is it treated?

The development of Enzyme Replacement Therapy in 1991 offered life-saving treatment to many Gaucher patients.

However, there remains much unmet medical need and in many countries, patients cannot get treatment as their governments do not have reimbursement programmes in place or are unable to support all patients who need treatment.

Early diagnosis is key as treatment may help prevent permanent damage.

“Gaucher disease has been treated in South Africa for in excess of 20 years, and the children who initially started on these treatments years ago are now thriving adults. This shows the importance for early diagnosis and treatment intervention, as this is directly linked to patient outcomes,” says Kelly du Plessis, CEO of Rare Diseases South Africa.

If you have symptoms and signs of this disease, please seek advice from your trusted healthcare provider.

Sources: Rare Diseases South Africa (press release) and National Gaucher Foundation