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.

Keywords: Amyloidosis; Hypertension, Portal; Liver Diseases; Multiple myeloma.

Figure 1. A - Gross aspect of the enlarged liver showing a slight nodular surface; B - Gross aspect of the enlarged spleen showing a pale cut surface and whitish fibrin deposits on peritoneal surface (bottom).

Figure 2. Photomicrography of smears. A, B - Liver and spleen, respectively, showing amorphous and dense orangophilic material (amyloid). The spindle cells in B (stromal and lymphocytes) are compressed by the amyloid. Papanicolaou stain (400X in A and 200X in B).

Figure 3. Photomicrography. A - Portal and periportal amyloid deposition in the liver (H&E, 100X); B - Sinusoidal deposition with obliteration of hepatic vein (H&E, 100X); C - Remnant lymphoid follicle in the spleen with diffuse sinusoidal amyloid deposits (H&E, 100X); D - Detail of splenic amyloid substitution (H&E, 400X).

Figure 4. Photomicrography of the myocardium. A - Interstitial amyloid deposits (H&E, 400X); B - Focal organizing thrombosis in a small artery (H&E, 200X).

Figure 5. Photomicrography of the kidneys. A - Diffuse glomerular mesangial amyloid deposits (H&E, 400X); B, C - Congo red staining 200X and 400X, respectively; D - Apple-green color of Congo red staining under polarized light (original magnification 200X).

Figure 6. Photomicrography of bone marrow. A - Interstitial deposits of amyloid (H&E, 200X); B - Increased population of plasma cells (H&E, 400X); C, D - Kappa and lambda plasma cells, respectively, showing a clonal expansion of lambda plasma cells (kappa and lambda light chains immunohistochemistry; 40X).