Light chain amyloidosis presenting with autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome

Introduction

Light chain (AL) amyloidosis is known to affect multiple organ systems. Although it can involve the liver, biliary channel pathology is rare. Primary biliary cirrhosis or primary sclerosing cholangitis (PSC) with autoimmune hepatitis (AIH) overlap syndrome is a very unusual presentation of systemic amyloidosis and to the best of our knowledge, not reported before. We present a rare case of a 46-years-old female with systemic amyloidosis secondary to AL amyloidosis manifesting primarily as nephrotic syndrome and AIH-PSC overlap syndrome.

Patient concerns

In this report, we present a 46-years-old previously healthy female who came with a 1-month history of a right upper quadrant pain and pruritis. She had hypercalcemia, deranged liver enzymes, nephrotic range proteinuria and positive Anti-smooth muscle antibody.

Diagnosis

The patient was diagnosed as AIH-PSC overlap syndrome secondary to AL amyloidosis based on clinical symptoms, biochemical, and magnetic resonance cholangiopancreatography findings. She had nephrotic range proteinuria, and upon investigation, kidney biopsy revealed AL amyloidosis. A bone marrow biopsy confirmed the presence of a plasma cell neoplasm.

Interventions

The patient received Ursodeoxycholic acid for pruritis. Magnetic resonance cholangiopancreatography was done to diagnose PSC. A kidney biopsy was done to diagnose amyloidosis. Bone marrow biopsy confirmed plasma cell neoplasm, for which she received bortezomib, cyclophosphamide and dexamethasone with a plan of autologous stem cell transplant.

Outcomes

The patient was asymptomatic on her follow-up visit after 1 week of discharge and tolerated chemotherapy well. Her liver enzymes (Alkaline phosphatase, Alanine aminotransferase, Aspartate aminotransferase had decreased significantly.

Conclusions

AL amyloidosis can very rarely present as AIH-PSC overlap syndrome, manifesting with raised liver enzymes, biliary strictures, pruritis and positive liver antibodies. Patients with amyloidosis involving multiple organ systems, especially at a young age, should be worked up to rule out malignancy. The treatment of AIH-PSC overlap syndrome should be accompanied by that of the primary amyloidosis for definitive management.

Other Information

Published in: Medicine: Case Reports and Study Protocols
License: https://creativecommons.org/licenses/by/4.0/

See article on publisher's website: https://dx.doi.org/10.1097/md9.0000000000000013