Morbus Gaucher Type 1 is a rare genetic condition caused by a problem in the body’s ability to break down certain fatty substances. This happens because of a missing or malfunctioning enzyme called glucocerebrosidase. When this enzyme doesn’t work as it should, fatty substances start to build up in specific cells, known as Gaucher cells. These cells accumulate in different parts of the body, particularly in the liver, spleen, and bone marrow, which can lead to a variety of symptoms.

One of the most noticeable signs of Gaucher Type 1 is an enlarged spleen or liver, which can make the abdomen appear swollen or distended. This can sometimes cause discomfort or pressure in the belly. Another common issue is bone involvement, where individuals might experience pain, reduced bone density, or fractures, making their bones more fragile over time. Additionally, the condition often affects blood counts, leading to anemia (low red blood cells), which can cause fatigue and weakness, as well as a tendency to bruise easily or experience frequent nosebleeds.