Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series

Harish Gopalakrishna; Bilal Asif; Anjali Rai; Hari S Conjeevaram; Maria Mironova; David E Kleiner; Alexandra F Freeman; Theo Heller

doi:10.1159/000536117

Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series

Case Rep Gastroenterol. 2024 Feb 1;18(1):49-57. doi: 10.1159/000536117. eCollection 2024 Jan-Dec.

Authors

Harish Gopalakrishna¹, Bilal Asif², Anjali Rai³, Hari S Conjeevaram⁴, Maria Mironova¹, David E Kleiner⁵, Alexandra F Freeman⁶, Theo Heller³

Affiliations

¹ Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
² Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.
³ Liver Diseases Branch, Translational Hepatology Section, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA.
⁴ Division of Gastroenterology, University of Michigan Medical School, Ann Arbor, MI, USA.
⁵ Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
⁶ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Abstract

Introduction: Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the PEPD gene. Patients usually have multi-organ involvement and a wide range of clinical features including recurrent skin ulcers, dysmorphic facial features, recurrent infections, intellectual disability, and splenomegaly. Studies have shown that patients with prolidase deficiency may have hepatic manifestations including hepatomegaly and abnormal liver enzymes. However, there is no detailed description of liver disease in this patient population.

Case presentation: Here, we present 3 patients with prolidase deficiency with varying extents of hepatic involvement.

Conclusion: Prolidase deficiency patients with liver disease should be followed up long term to understand more about the pathophysiology and the impact of liver disease on long-term outcomes.

Keywords: Hepatic involvement; Liver disease; Prolidase deficiency.

Publication types

Case Reports

Grants and funding

This work was supported by the Divisions of Intramural Research, National Institute of Allergy and Infectious Diseases, National Cancer Institute, and National Institute of Diabetes and Digestive Diseases and Kidney diseases, NIH.