SHM Converge Scientific Abstract ePoster Gallery-Ten-Year Evolution of Alps Complicated by Autoimmune Hepatitis and Bullous Pemphigoid

Pdf Summary

This poster presents a 10-year case of Autoimmune Lymphoproliferative Syndrome (ALPS), a rare disorder caused by defective FAS-mediated apoptosis leading to chronic lymphoproliferation and autoimmune cytopenias. The report highlights unusual extra-hematologic complications: autoimmune hepatitis and bullous pemphigoid.<br /><br />A 26-year-old man with genetically confirmed ALPS (FAS mutation, elevated double-negative T cells) had longstanding anemia, leukopenia, thrombocytopenia, and progressive splenomegaly, but no lymphadenopathy. Over time, he developed severe transaminitis and hyperbilirubinemia. Extensive workup excluded viral, metabolic, genetic, and medication-related liver disease, and autoimmune serologies were negative with normal IgG. Liver biopsy showed portal chronic inflammation with eosinophils and mild periportal fibrosis, supporting autoimmune hepatitis-like injury.<br /><br />He was initially treated with sirolimus for ALPS-related cytopenias, but liver enzymes worsened and he later developed pruritic blistering skin lesions consistent with bullous pemphigoid. In late 2023, sirolimus was replaced with mycophenolate mofetil. Over the next year, liver tests improved, skin lesions resolved, and splenomegaly decreased, with the patient remaining clinically stable.<br /><br />The authors conclude that ALPS can evolve into delayed, multi-organ autoimmunity affecting the liver and skin. They stress the importance of ruling out other causes before diagnosing ALPS-associated autoimmune hepatitis. Mycophenolate may provide better control than sirolimus when extra-hematologic manifestations are present, but long-term monitoring remains essential.

Asset Subtitle

Fatih B. Kaner

Meta Tag

Author List Barkha Kumari, Fatih B. Kaner, Fatima Ali, Naina Kumari

Category Clinical Vignettes

Concept Autoimmune Lymphoproliferative Syndrome

Concept Fas-mediated apoptosis

Concept Lymphoproliferation

Concept Autoimmunity

Concept Sirolimus

Distinguished Non-Finalist

Presenter Organization Marion Health

Presenting Author Fatih B. Kaner

Track Adult

Keywords

Autoimmune Lymphoproliferative Syndrome

ALPS

FAS mutation

autoimmune hepatitis

bullous pemphigoid

lymphoproliferation

autoimmune cytopenias

sirolimus

mycophenolate mofetil

splenomegaly

Autoimmune Lymphoproliferative Syndrome

Fas-mediated apoptosis

Lymphoproliferation

Autoimmunity

Sirolimus