Gaucher Disease – greater awareness and education needed to improve diagnosis

Gaucher Disease – greater awareness and education needed to improve diagnosis

Johannesburg, 3 October23: International Gaucher Day falls on 1 October each year, and Sanofi South Africa is committed to raising awareness and supporting patients with Gaucher disease, a rare and potentially life-threatening inherited disorder that affects multiple organs and systems in the body.

Gaucher disease is caused by a deficiency of an enzyme called glucocerebrosidase, which normally breaks down a fatty substance called glucocerebroside. When this enzyme is missing or defective, glucocerebroside accumulates in certain cells, especially in the spleen, liver and bone marrow. This can cause various symptoms and complications, such as enlarged spleen and liver, anaemia, low platelet count, bone pain, fractures and neurological problems1.

Gaucher disease is classified into three types, depending on the presence and severity of neurological involvement. Type 1 is the most common and affects about 90% of patients worldwide. Type 2 and 3 are more rare and severe, and usually manifest in early childhood with progressive neurological deterioration1.

In South Africa, Gaucher disease is pan-ethnic, with English, Afrikaner and black patients being diagnosed with increasing frequency2. According to the Gaucher’s Society of South Africa1, there are about 50 identified patients with Gaucher disease in the country.

The diagnosis of Gaucher disease can be challenging due to its wide variability in clinical presentation and severity. A simple blood test can confirm the diagnosis by measuring the enzyme activity or identifying the genetic mutation. However, many patients remain undiagnosed or misdiagnosed for years before receiving appropriate care1.

Dr. Nurdan Bulur, Country Medical Lead at Sanofi, says: “It is vital for patients to get tested early to gain a definitive diagnosis of GD so that treatment may be started to prevent progression of the disease, as well as to improve quality of life. However, we understand how difficult it can be for healthcare professionals to diagnose the disease. Through our partnership with Rare Diseases South Africa (RDSA) and continued educational efforts, the hope is that we can raise greater awareness of GD amongst both potential patients and doctors, so that a timely diagnosis can be made.”

RDSA is a non-profit organisation which advocates to ensure that people living with rare diseases and congenital disorders experience greater recognition, support, improved health service and better overall quality of life4. Newly diagnosed patients can therefore rest assured that there is a community out there where they can receive help, support and counselling.

The management of Gaucher disease is also complex and requires a multidisciplinary approach involving various specialists, such as haematologists, hepatologists, orthopaedics, neurologists and geneticists. The main treatment option for Gaucher disease is enzyme replacement therapy (ERT), which involves infusing the missing enzyme into the patient’s bloodstream. ERT can reduce the accumulation of glucocerebroside in the affected cells and improve the symptoms and quality of life of patients.

Sanofi South Africa is committed to improving the lives of patients with Gaucher disease by providing access to ERT and supporting research and education initiatives on this rare condition.

Sanofi South Africa invites everyone to join the efforts to raise awareness and advocate for patients with Gaucher disease. Together, we can make a difference for this rare community.



  1. Accessed September 2023
  2. Louw VJ, Fraser I, Giraldo P. Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice.  August 2023
  3. Accessed September 2023.

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