Five individuals in the Maldives have been diagnosed with Gaucher disease, a rare genetic disorder characterised by the buildup of fatty substances in organs such as the liver and spleen. The discovery of the disease in the country was revealed by renowned paediatrician Dr. Ahmed Faisal in a tweet posted on Wednesday.
According to the Mayo Clinic, Gaucher disease leads to the enlargement and impaired function of affected organs, as well as weakened bones and an increased risk of fractures. The condition can also interfere with blood clotting if the bone marrow is affected.
Symptoms of Gaucher disease vary widely, even within the same type. Most commonly, individuals experience abdominal complaints due to an enlarged liver and spleen. Skeletal abnormalities, such as weakened bones and compromised blood supply, can increase the likelihood of fractures. Blood disorders may cause anemia, severe fatigue, bruising, and nosebleeds. In rare cases, Gaucher disease can affect the brain, resulting in abnormal eye movements, muscle rigidity, swallowing difficulties, and seizures.
Dr. Faisal’s tweet appears to be aimed at drawing public attention to the presence of Gaucher disease in the Maldives. However, local health authorities have not yet made any statements regarding the matter.
Gaucher disease is inherited in an autosomal recessive pattern, meaning both parents must carry a mutated Gaucher gene for their child to develop the condition.
According to medical experts, early diagnosis and timely treatment are crucial for Gaucher disease management. Enzyme replacement therapy is often part of the treatment plan, along with comprehensive care to address symptoms and complications.
This site uses Akismet to reduce spam. Learn how your comment data is processed.