Gaucher Disease – greater awareness and education needed to improve diagnosis

Johannesburg – International Gaucher Day is commemorated on October 1 each year in a bid to raise awareness of the rare and potentially life-threatening inherited disorder that affects multiple organs and systems in the body.

Pharmaceutical company Sanofi South Africa explained that Gaucher Disease (GD) 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,” they said.

“This can cause various symptoms and complications, such as enlarged spleen and liver, anaemia, low platelet count, bone pain, fractures and neurological problems.”

Sanofi South Africa added that GD 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 deterioration.

And in South Africa, Gaucher Disease is pan-ethnic, with English, Afrikaner and black patients being diagnosed with increasing frequency.

“According to the Gaucher’s Society of South Africa1, there are about 50 identified patients with Gaucher disease in the country,” Sanofi South Africa said.

They added that 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 care.”

Dr Nurdan Bulur, Country Medical Lead at Sanofi, added that 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,” he said.

Through Sanofi South Africa’s partnership with Rare Diseases South Africa (RDSA) and continued educational efforts, they hope to 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 that advocates to ensure that people living with rare diseases and congenital disorders experience greater recognition, support, improved health service and better overall quality of life.

“Newly diagnosed patients can, therefore, rest assured that there is a community out there where they can receive help, support and counselling,” Bulur said.

He added that the management of GD 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.”