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.” Also read | Genetic disorders in India: Common types, risk factors, preventing transmission
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. Also read | Anderson-Fabry Disease: Types, signs and symptoms, diagnosis, treatment of rare genetic disorder that affects organs
Gaucher disease: Diagnosis and treatment
“Diagnosing Gaucher disease typically involves a combination of clinical evaluation, family history, and laboratory tests. A blood test to measure glucocerebrosidase enzyme activity is crucial in identifying the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the GBA gene,” explained Dr Ankush Golhar.
While Gaucher disease does not have any cure yet, it can be treated. The primary treatment options are:
Enzyme replacement therapy (ERT): This involves regular intravenous infusions of a synthetic version of the missing enzyme. ERT has been shown to reduce the size of the spleen and liver, improve bone health, and alleviate other symptoms, although it does not address the neurological issues associated with Type 2 and Type 3.
Substrate reduction therapy (SRT): This oral medication helps to reduce the production of glucocerebroside, thereby preventing its accumulation in cells. It is typically used for patients who cannot undergo ERT or for those with milder forms of the disease. Also read | What is Hemochromatosis, the rare genetic disorder that causes organ dysfunction?
Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.
