Amyloidosis: an unusual cause of portal hypertension

Abstract

Amyloidosis comprises a group of diseases that occurs in five to nine cases per million patients per year worldwide irrespective of its classification. Although the hepatic involvement in primary amyloidosis is frequent, the clinical manifestations of liver amyloidosis are mild or even absent. The authors report the case of an aged man who complained of diffuse abdominal pain and marked weight loss and presented clinical signs of hepatopathy. Clinical workup revealed portal hypertension with ascites, hemorrhoids, and esophageal varices. The laboratory tests showed the cholestatic pattern of liver enzymes, hyperbilirubinemia, renal insufficiency and massive proteinuria accompanied by the presence of serum pike of monoclonal lambda light chain protein. The outcome was unfavorable, and the patient died. The autopsy findings revealed the diagnosis of amyloidosis predominantly involving the liver and kidneys. The bone marrow examination demonstrated the deposition of amyloid material associated with clonal plasma cells infiltration. The authors call attention to portal hypertension as a rare manifestation of primary amyloidosis. Meanwhile, this diagnosis should be taken into account whenever the hepatopathy is accompanied by laboratory abnormalities consistent with hepatic space-occupying lesions concomitantly with other organs involvement. In the case reported herein, kidney involvement was also present with renal failure, massive proteinuria with monoclonal serum gammopathy, what reinforced the diagnostic possibility of primary amyloidosis.

Primary Hepatic Amyloidosis Presenting as Acute-on-Chronic Liver Failure

“…A recent study determined that only 0.44% of cases with liver failure were attributable to an infiltrating malignancy 3. Cases of acute liver failure have previously been reported in AL amyloidosis 4-10. These cases usually presented due to myeloma, which was absent in our patient.…”

“… 3 A diagnosis of AL amyloidosis (primary hepatic amyloidosis) with progressive liver failure is rarely seen in the absence of myeloma, with few prior cases of primary amyloidosis presenting as acute liver failure in the reviewed literature. 4 - 10 The diagnostic challenge in this case now serves as a differential in the etiological work-up for progressive liver failure.…”

Response of Bortezomib Chemotherapy in Hepatic Amyloidosis

“…The term “amyloid” was first used by Rudolf Virchow in 1853. 1 Approximately 23 subtypes have been reported and are classified into localized or systemic forms according to deposition patterns of amyloid proteins. 6 AL, AA, β 2 -macroglobulin, and familial are the main subtypes of systemic amyloidosis.…”

“…AL occurs due to plasma cell clonal disorders resulting in abnormal immunoglobulin light chain deposition throughout multiple organ systems. 1 It is more common in developed countries. In the United States, AL is the most often encountered subtype with approximately 4500 new cases diagnosed each year.…”

The Autopsy as the Cornerstone for Education and Research in Cardiology

“…Two examples of such important contribution became evident from the analysis of two cases published in the current issue of Autopsy & Case Reports. 1 , 2 The two of them had an inflammatory commitment of the myocardium as the main condition leading to death. One case probably represents a viral myocarditis in a child and the other a complication of drug intake in the form of hypersensitivity myocarditis.…”