Durban — To raise awareness of the important strides made in early diagnosis and innovative treatments for Gaucher, which is one of the most common lysosomal storage disorders, health specialists have detailed this rare disease.
Sanofi South Africa and Africa Medical Head, Pharma said that Raising awareness about Gaucher helps to promote a better understanding of the disease,
In a statement, the global healthcare company stated that Gaucher disease is caused by a lack of an enzyme called glucocerebrosidase, which leads to the build-up of certain fatty substances in vital organs like the liver, spleen, and bone marrow. and that this build-up results in a range of symptoms that can significantly impact quality of life.
It also includes enlarged liver and spleen, low levels of red blood cells, low platelet counts and skeletal abnormalities, such as bone pain, fractures, and joint issues that can potentially lead to irreversible bone damage in more severe forms of Gaucher disease.
“Sanofi is dedicated to improving patients' lives by ensuring access to early diagnostics and making treatment available for Gaucher disease, while also strengthening support systems through partnerships with various stakeholders,” said Gaucher.
With continued efforts to improve diagnostic methods and treatment availability, we are working towards a future where patients affected by Gaucher disease can experience an improved quality of life, even while managing this chronic condition, said Gaucher.
Also, it includes neurological symptoms such as seizures, cognitive decline and lack of coordination are a symptom.
Gaucher disease is classified into three types, including Type 1 (Non-neuronopathic) that is the most common form, it mainly affects the liver and spleen, with symptoms becoming apparent in childhood or adulthood. It does not involve the brain or nervous system.
Type 2 (Acute Neuronopathic): A severe form that affects infants, leading to rapid loss of brain function and typically resulting in early death and Type 3 (Chronic Neuronopathic) which is a form that affects both the organs and the nervous system, usually developing in early childhood. Neurological symptoms, such as myoclonic seizures, ataxia (lack of coordination), and cognitive impairment, tend to progress more slowly than in Type 2.
Sanofi said there is no cure for Gaucher disease, but multiple effective therapies are available to manage symptoms and improve the quality of life for those affected which include Enzyme replacement therapy (ERT), Substrate reduction therapy (SRT) and Chaperone therapy.
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