Gaucher disease is a genetic disorder when the body is unable to break down certain fats, leading to fat accumulation in the cells. In an interview with HT Lifestyle, Dr Ankush Golhar, liver transplantation and HPB surgeon, Jupiter Hospital, Thane said, “Gaucher disease is caused by mutations in the GBA gene, which encodes the enzyme glucocerebrosidase, responsible for breaking down glucocerebroside, a lipid that accumulates within cells when the enzyme is deficient or absent.” 

Gaucher disease: Types and symptoms

Type 1 (non-neuronopathic): This is the most common form and accounts for approximately 90% of all cases. It primarily affects the spleen, liver, and bone marrow but does not impact the nervous system. Symptoms include enlargement of the spleen (splenomegaly) and liver (hepatomegaly), bone pain or fractures, fatigue, and easy bruising.

Type 2 (acute neuronopathic): This form is much rarer and more severe, with rapid progression that leads to neurological damage. Infants with Type 2 Gaucher disease may experience symptoms such as poor muscle tone, seizures, and developmental delays, often leading to death at a young age.

Type 3 (chronic neuronopathic): Type 3 is a more moderate form of the disease, where neurological symptoms develop later in childhood or adolescence. Affected individuals may experience a wide range of neurological problems, including eye movement issues, coordination difficulties, and seizures, along with the symptoms common to Type 1. 

Gaucher disease: Diagnosis and treatment

Diagnosing Gaucher disease generally requires a thorough clinical assessment, an evaluation of family medical history, and various laboratory tests. A key component in diagnosing the condition is a blood test that measures the activity of the glucocerebrosidase enzyme. Additionally, genetic testing can provide confirmation of the diagnosis by detecting mutations in the GBA gene, as noted by Dr. Ankush Golhar.

Although there is currently no cure for Gaucher disease, effective treatment options are available. The main treatment modalities include:

Enzyme replacement therapy (ERT): This treatment consists of regular intravenous infusions of a synthetic form of the enzyme that is deficient in patients. ERT has been effective in reducing the size of the spleen and liver, enhancing bone health, and alleviating various symptoms; however, it does not address the neurological complications associated with Type 2 and Type 3 forms of the disease.

Substrate reduction therapy (SRT): This oral treatment works by decreasing the production of glucocerebroside, which helps prevent its accumulation within cells. SRT is typically recommended for patients who are unable to receive ERT or for those with less severe manifestations of the disease.

Read Also: Reduced Water Intake May Contribute to Dark Circles, Dermatologist Explains Link Between Hydration and Skin Health

"Get the latest Bollywood entertainment news, trending celebrity news, latest celebrity news, new movie reviews, latest entertainment news, latest Bollywood news, and Bollywood celebrity fashion & style updates!"