Amyloidosis and gastric bleeding in a patient with Gaucher disease.

GOALS: To describe the clinical course of a patient with Gaucher disease who subsequently developed amyloidosis.

BACKGROUND

We present a case of a splenectomized patient with Gaucher disease who developed portal hypertension secondary to an enlarged, cirrhotic-like liver, and recurrent life-threatening upper gastrointestinal bleeding.

STUDY: Despite repeated diagnostic biopsies, amyloidosis was only ascertained after death.

RESULTS

Albeit very rare, there are four other similar cases in the literature, but unlike these previous reports of concurrence of Gaucher disease and amyloidosis, in this patient the gastrointestinal symptoms were life-threatening but there was no evidence of gammopathy or renal disease. Also, this is the first patient who was treated with enzyme replacement therapy for 5 years prior to manifestation of amyloidosis.

CONCLUSIONS

Coexistence of apparently unrelated diseases with Gaucher disease demands a greater awareness of abnormalities at the biochemical and/or molecular level to adequately manage patients with Gaucher disease, regardless of concurrent enzyme replacement therapy.