A Case of Primary Amyloidosis Involving Liver, Stomach, Intestines, and Heart without Evident Kidney Involvement

Abstract

Aim. Systemic amyloidosis caused by the synthesis and deposition of immunoglobulin light chains (AL amyloidosis) is a relatively rare disease that involves heart, kidneys, peripheral nervous system, gastrointestinal tract, and has a large number of various clinical manifestations. We present a clinical case of systemic AL amyloidosis with a predominant involvement of liver, stomach, intestines, and heart in a Caucasian female.Key points. A Caucasian woman presented to clinic with severe general weakness, abdominal pain, diarrhea, sudden weight loss, and palpitation. Initial examination revealed a duodenal bulb ulcer complicated by bleeding and polyps in the retrobulbar part of duodenum. Decreased hemoglobin levels, elevated levels of alkaline phosphatase, gamma-glutamyltransferase, and N-terminal prohormone of brain natriuretic peptide, signs of heart failure with preserved ejection fraction, and hepatomegaly became the basis for a clinical suspicion of AL amyloidosis and puncture liver biopsy. Histochemical and immunohistochemical studies of liver, stomach, and duodenum biopsy specimens confirmed AL amyloidosis. Timely diagnosis made it possible to conduct a specific therapy with melphalan plus dexamethasone, get a satisfactory response and improve the patient’s condition.Conclusion. A thorough examination of patients along with a pathomorphological and immunohistochemical study of the biopsy specimens is the basis for confirming the diagnosis of AL amyloidosis, selecting the proper therapy, improving the condition of patients and their survival.

Keywords

• primary al amyloidosis
• immunoglobulin light chain amyloidosis