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Hepatic Amyloidosis Presenting as a Large Hepatic Mass
Electronic Image of the Month Hepatic Amyloidosis Presenting as a Large Hepatic Mass JEE WAN WEE, SOUNG WON JEONG, and JAE YOUNG JANG Department of Gastroenterology and Hepatology, Soonchunhyang University Hospital, Seoul, Korea
A
43-year-old man was admitted to our department complaining of a large abdominal mass. The patient had become aware of the mass 1 year earlier, but did not seek medical care until it became evident. He denied alcohol and drug abuse, and had no history of chronic hepatitis B or C infection. Physical examination revealed a large, firm, nontender mass that was palpable from the right upper quadrant to the periumbilical area. Laboratory studies revealed high levels of aspartate aminotransferase (122 IU/L), alanine aminotransferase (99 IU/L), total bilirubin (1.4 mg/dL), alkaline phosphatase (2746 IU/L), and ␥-glutamyl transpeptidase (709 IU/L). The initial creatinine level was normal (1.0 mg/dL). Computed tomography of the abdomen revealed a markedly hypertrophic left lobe with diffuse, low, heterogeneous parenchymal attenuation and uneven enhancement patterns in both lobes (Figure A). Thrombosis was noted in the right main portal vein. The hepatic venous pressure gradient was 13 mm Hg, and the Child–Pugh class was A (6). Esophagogastroduodenoscopy
showed extrinsic compression of the stomach (Figure B). Biopsy revealed proliferation of atrophic hepatic cords and marked interstitial deposition of amorphous hyaline-like material (Figure C). Hepatic amyloidosis presenting as a large hepatic mass is rare. Furthermore, our patient had no evidence of systemic amyloidosis on the physical examination or laboratory findings at initial admission. The histopathology results also did not show pathognomonic findings of amyloidosis until Congo red staining was performed. Three months after the first admission, the patient presented with dyspnea and an increased creatinine Conflicts of interest The authors disclose no conflicts. © 2012 by the AGA Institute 1542-3565/$36.00 http://dx.doi.org/10.1016/j.cgh.2012.05.014 CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2012;10:e73– e74
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IMAGE OF THE MONTH
level. Congo red staining then was performed, and faint applegreen birefringence was seen on polarizing microscopy (Figure D). A diagnosis of hepatic amyloidosis was made. Echocardiography showed increased left ventricular wall thickness with a sparkling granular texture, which was suggestive of cardiac amyloidosis. His kidney also was involved, so chemotherapy was started immediately. However, the patient died 1 month after treatment from advanced systemic amyloidosis. The systemic amyloidoses are a group of complex diseases caused by tissue deposition of misfolded proteins that results in progressive organ damage.1 Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and gastrointestinal symptoms.2 The liver is the major site of involvement, but the clinical manifestations usually are mild with hepatomegaly and an increased alkaline phosphatase level.2 However, serious symptoms such as hepatic failure and portal hypertension may develop. None of
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY Vol. 10, No. 9
the present radiologic imaging techniques can specifically diagnose hepatic amyloidosis. Both the clinical and imaging presentations of amyloidosis usually are varied and nonspecific, so a rapid clinical diagnosis is difficult. The diagnosis of amyloidosis depends on a tissue biopsy to confirm the presence of amyloid deposits. Progressive organ involvement leads to organ failure and death, usually resulting from renal and/or cardiac involvement. Early diagnosis of amyloidosis is essential because it allows a broader range of therapeutic options1 and could minimize multiple organ damage, which is the cause of death. Hepatic amyloidosis should be considered as a differential diagnosis of an asymptomatic, nontender, large hepatic mass.
References 1. Merlini G, Seldin DC, Gertz MA. Amyloidosis: pathogenesis and new therapeutic options. J Clin Oncol 2011;29:1924 –1933. 2. Ebert EC, Nagar M. Gastrointestinal manifestations of amyloidosis. Am J Gastroenterol 2008;103:776 –787.
A
43-year-old man was admitted to our department complaining of a large abdominal mass. The patient had become aware of the mass 1 year earlier, but did not seek medical care until it became evident. He denied alcohol and drug abuse, and had no history of chronic hepatitis B or C infection. Physical examination revealed a large, firm, nontender mass that was palpable from the right upper quadrant to the periumbilical area. Laboratory studies revealed high levels of aspartate aminotransferase (122 IU/L), alanine aminotransferase (99 IU/L), total bilirubin (1.4 mg/dL), alkaline phosphatase (2746 IU/L), and ␥-glutamyl transpeptidase (709 IU/L). The initial creatinine level was normal (1.0 mg/dL). Computed tomography of the abdomen revealed a markedly hypertrophic left lobe with diffuse, low, heterogeneous parenchymal attenuation and uneven enhancement patterns in both lobes (Figure A). Thrombosis was noted in the right main portal vein. The hepatic venous pressure gradient was 13 mm Hg, and the Child–Pugh class was A (6). Esophagogastroduodenoscopy
showed extrinsic compression of the stomach (Figure B). Biopsy revealed proliferation of atrophic hepatic cords and marked interstitial deposition of amorphous hyaline-like material (Figure C). Hepatic amyloidosis presenting as a large hepatic mass is rare. Furthermore, our patient had no evidence of systemic amyloidosis on the physical examination or laboratory findings at initial admission. The histopathology results also did not show pathognomonic findings of amyloidosis until Congo red staining was performed. Three months after the first admission, the patient presented with dyspnea and an increased creatinine Conflicts of interest The authors disclose no conflicts. © 2012 by the AGA Institute 1542-3565/$36.00 http://dx.doi.org/10.1016/j.cgh.2012.05.014 CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2012;10:e73– e74
e74
IMAGE OF THE MONTH
level. Congo red staining then was performed, and faint applegreen birefringence was seen on polarizing microscopy (Figure D). A diagnosis of hepatic amyloidosis was made. Echocardiography showed increased left ventricular wall thickness with a sparkling granular texture, which was suggestive of cardiac amyloidosis. His kidney also was involved, so chemotherapy was started immediately. However, the patient died 1 month after treatment from advanced systemic amyloidosis. The systemic amyloidoses are a group of complex diseases caused by tissue deposition of misfolded proteins that results in progressive organ damage.1 Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and gastrointestinal symptoms.2 The liver is the major site of involvement, but the clinical manifestations usually are mild with hepatomegaly and an increased alkaline phosphatase level.2 However, serious symptoms such as hepatic failure and portal hypertension may develop. None of
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY Vol. 10, No. 9
the present radiologic imaging techniques can specifically diagnose hepatic amyloidosis. Both the clinical and imaging presentations of amyloidosis usually are varied and nonspecific, so a rapid clinical diagnosis is difficult. The diagnosis of amyloidosis depends on a tissue biopsy to confirm the presence of amyloid deposits. Progressive organ involvement leads to organ failure and death, usually resulting from renal and/or cardiac involvement. Early diagnosis of amyloidosis is essential because it allows a broader range of therapeutic options1 and could minimize multiple organ damage, which is the cause of death. Hepatic amyloidosis should be considered as a differential diagnosis of an asymptomatic, nontender, large hepatic mass.
References 1. Merlini G, Seldin DC, Gertz MA. Amyloidosis: pathogenesis and new therapeutic options. J Clin Oncol 2011;29:1924 –1933. 2. Ebert EC, Nagar M. Gastrointestinal manifestations of amyloidosis. Am J Gastroenterol 2008;103:776 –787.