2. Enlarged Liver and Spleen: Early Signs of Trouble
Hepatosplenomegaly, a condition characterized by the enlargement of the liver and spleen, is another key symptom of Niemann-Pick disease. This is usually due to the accumulation of cholesterol and other lipids in these organs.
The abnormal enlargement of the liver and spleen may first become apparent during infancy or early childhood. Affected children may have a visibly distended abdomen and may experience discomfort or fullness in the abdominal area. This enlargement can interfere with normal digestion, leading to decreased appetite and slow weight gain or even weight loss.
Hepatosplenomegaly is often among the first signs of Niemann-Pick disease. Early detection of this symptom can be instrumental in initiating prompt evaluation and management. Ensuring regular physical check-ups for infants and children, especially those with a known family history of the disease, is crucial in this regard. (2)
