An Unusual Case of Rapidly Progressive Hepatic Failure and Death due to Primary Hepatic AL (kappa) Amyloidosis

Abstract

Purpose: Hepatic amyloidosis is a rare infiltrative disease involving the liver. Although hepatic involvement is common in systemic amyloidosis, clinically significant liver failure is very rare. This is an unusual case of a 62-year-old man with past medical history of DM Type II, HTN, and chronic renal insufficiency, who initially presented with symptoms of weight gain, abdominal distension, altered mental status, worsening fatigue, and diarrhea over a period of three weeks. He was found to have hepatomegaly and ascites on exam, while lab studies showed evidence of acute renal failure, severe anemia, and coagulopathy. An ultrasound of the abdomen showed evidence of ascites and hepatosplenomegaly, while EGD showed evidence of small esophageal varices and portal hypertensive gastropathy. A biopsy of the liver was performed for further evaluation, which showed atrophic hepatocytes with severe sinusoidal deposition of homogenous eosinophilic material, with a positive congo-red stain showing apple green birefringence consistent with amyloid deposits. The sample was further sent for liquid chromatography tandem mass spectrometry, which detected a peptide profile consistent with AL (kappa) amyloid deposition. His hospital course became complicated with oral and gastric mucosal bleeding refractory to replacement of coagulation factors. Also, complications of dialysis-dependent renal failure, hypoxic respiratory failure, and gram negative sepsis further contributed to his declining condition. He died soon after from hypovolemic shock secondary to ongoing mucosal bleeding refractory to treatment. Patients with primary systemic amyloidosis who have biopsy-proven liver involvement (primary hepatic amyloidosis) have a poor prognosis; the median survival of patients has been reported as 8.5 months, while in this case, he rapidly deteriorated within six weeks of being diagnosed for amyloidosis.