A 78-year-old woman with Osler-disease and amyloidosis

Background: Both amyloidosis and hereditary hemorrhagic telangiectasia (Osler disease) are rare. Involvement of the GI tract is frequent in amyloidosis but the diagnosis is difficult because of the variable clinical manifestations and the nonspecific nature of endoscopic signs. Various endoscopic findings have been reported: fine granular appearance, multiple yellowish-white polypoid protrusions, prominent folds, small mucosal hemorrhages, shallow ulcers, erosions, waxy plaques, and mucosal friability. Simultaneous occurrence of Osler disease and amyloidosis is rare.

Case report: A 78-year-old woman with Osler disease was investigated because of anemia. Upper GI endoscopy revealed telangiectases in the upper part and fine granular appearance in the lower part of the oesophagus, and patchy, yellowish plaque-like lesions in the duodenum. Biopsy specimens demonstrated amyloid deposits with Congo red staining and a characteristic green birefringence under polarized light. Immunofixation revealed AL-amyloidosis with lambda paraproteins. Upon the bone marrow aspiration myeloma multiplex was diagnosed. Teleangiectases of the oesophagus were treated with argon plasma coagulation.

Conclusion: Endoscopists should be aware of the many possible endoscopic appearances of GI amyloidosis to avoid a delayed or missed diagnosis. Gastric, duodenal, gingival, tongue and rectal biopsies are often employed to confirm a diagnosis of systemic amyloidosis. To our knowledge, no cases have as yet been reported with hereditary hemorrhagic telangiectasia and amyloidosis of the oesophagus.