2. Enlarged Liver and Spleen (Hepatosplenomegaly): Hidden Indicators of Trouble
The second symptom on our list – an enlarged liver and spleen, or hepatosplenomegaly – is a physical manifestation of Gaucher disease. In this condition, there is a buildup of fatty substances known as glucocerebrosides in the liver and spleen, causing these organs to enlarge. This buildup is due to the lack of the enzyme glucocerebrosidase, which is responsible for breaking down these substances.
On the outside, hepatosplenomegaly may not be immediately noticeable. However, an enlarged liver can lead to discomfort or a feeling of fullness in the abdomen. This might even be mistaken for overeating or a gastric issue.
Similarly, an enlarged spleen might not cause any direct pain but it can lead to other issues. As the spleen swells, it can decrease the number of healthy blood cells, exacerbating anemia and worsening fatigue, creating a vicious cycle of deteriorating health.
Diagnosing hepatosplenomegaly typically involves imaging studies such as ultrasounds or CT scans. An enlarged spleen or liver on these scans, especially in the presence of other indicative symptoms, can be a strong suggestion of Gaucher disease. Although hepatosplenomegaly is also seen in other conditions, its presence, particularly when accompanied by unexplained fatigue, should warrant further investigation for Gaucher disease. (2)
