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Gaucher disease: hepatic abnormalities in 25 patients
Progress in Clinical and Biological Research
|January 1, 1982
Summary
Gaucher disease frequently causes liver complications, including enlarged liver and abnormal liver function tests. Liver involvement severity correlates with other Gaucher disease complications, impacting treatment considerations.
Area of Science:
- Hepatology
- Rare Diseases
- Genetic Disorders
Background:
- Gaucher disease is a rare genetic disorder.
- Hepatic involvement is a common complication of Gaucher disease.
- Understanding the spectrum of liver disease in Gaucher disease is crucial.
Purpose of the Study:
- To investigate the prevalence and patterns of hepatic complications in patients with Gaucher disease.
- To correlate the severity of liver involvement with other Gaucher disease complications.
- To inform patient selection for therapeutic trials.
Main Methods:
- Study included 25 patients with confirmed Gaucher disease.
- Clinical examination, radioisotopic scans, and liver function tests were performed.
- Liver biopsy and light microscopy were used to assess hepatic pathology.
Main Results:
- Hepatomegaly was present in all but one patient.
- Most patients exhibited abnormal liver function tests, including elevated transaminases, alkaline phosphatase, and impaired sulfobromophthalein (BSP) clearance.
- Gaucher cells were universally present, with varied distribution patterns; 3 patients showed extensive liver replacement and cirrhosis.
- Portal hypertension was observed in 3 patients.
- No amyloid deposits were found.
Conclusions:
- Hepatic involvement in Gaucher disease is common and presents a wide range of abnormalities.
- The severity of liver disease correlates with other systemic complications.
- These findings are important for evaluating patients in clinical trials for Gaucher disease therapies.