Type 1 Gaucher disease usually follows a progressive course, although this can vary widely between individuals and usually is unpredictable. (In the Diagnosing Gaucher section of this website, signs and symptoms appearing first are summarized). The disorder may result in pathological characteristics that may become difficult or impossible to reverse. Manifestations may be debilitating and disabling. Gaucher disease (including Type 1) may be fatal as a result of hemorrhage, sepsis, and other infections, malignant neoplasms, and progressed liver and pulmonary disease.
Long-term physical consequences may include:
- Hypersplenism, spleen infarcts, spleen scarring, and formation of nodules
- Advanced liver disease with fibrosis (pseudocirrhosis), portal hypertension, esophageal varices, hepatocellular cancer
- Advanced bone involvement with progressive deterioration and eventual irreversible disability
- Pulmonary hypertension
Singly, or in combination, the symptoms of Gaucher disease may diminish patients' feelings of well-being and functional health. Emotional issues relating to Gaucher disease can put strains on individual patients and entire families.
Body image can be a difficult challenge for individuals who have an enlarged spleen or liver, or are smaller in stature than others. Children and adults may be teased or ridiculed for looking “different.” This can be especially problematic for children who may suffer from a negative self-image during their formative years. To address these issues, counseling may be appropriate.
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