Type 1 Gaucher disease often follows a progressive course. The disorder may result in pathological features that may become difficult or impossible to reverse. Symptoms can become debilitating and disabling. Disease progression can vary widely and have an unpredictable course.^[1] In some cases, Gaucher disease may be fatal.^[2] Death has been observed to occur as the result of cirrhosis, sepsis, pulmonary disease, and postoperative complications.^[1,2]

Physical consequences

Long-term physical consequences may include:

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

Advanced liver disease with fibrosis (pseudocirrhosis) or portal hypertension^[1]

Advanced bone involvement with progressive deterioration and eventual disability^[3]

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, and prevent them from working or pursuing family or leisure activities.^[5] Emotional issues relating to Gaucher disease can put strains on individual patients and entire families.

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

2. Grabowski G. Gaucher disease: enzymology, genetics, and treatment. In:Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993:377-441.

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

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. Verderese C, Graham OC, Holder-McShane C, et al. Gaucher’s disease: a pilot study of the symptomatic responses to enzyme replacement therapy. J Neurosci Nurs. 1993;25(5):296-301.