Disease Progression

Type 1 Gaucher disease usually follows a progressive course, although this can vary widely between individuals and usually is unpredictable.^[1] (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.^[2]

Physical consequences
Long-term physical consequences may include:

Hypersplenism, spleen infarcts, spleen scarring, and formation of nodules^[1]

Advanced liver disease with fibrosis (pseudocirrhosis), portal hypertension, esophageal varices, hepatocellular cancer^[3]

Advanced bone involvement with progressive deterioration and eventual irreversible disability^[1]

Pulmonary hypertension^[4]

Quality-of-life consequences
Singly, or in combination, the symptoms of Gaucher disease may diminish patients' feelings of well-being and functional health.^[5] 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.

Patient stories & Gaucher Video

See our patient profiles to meet some Gaucher patients and learn about their experience with getting diagnosed and videos on common symptoms and progression of Gaucher disease.

References:

1. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Ach Intern Med. 1998;158:1754-1760.

2. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4):657-689.

3. Jameson JL, Kopp P. Principles of human genetics. In: Braunwald E, Fauci AS, et al, eds. Harrison's Principles of Internal Medicine. 15^th ed. New York, NY: McGraw-Hill; 2001:375-396.

4. Karem E, Elstein D, Abrahamov A, et al. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9(2)340-345.

5. Meikle, PJ, et al. Prevalence of Lysosomal Storage Disorders. JAMA; 1999: 281-249