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case_report·pediatrics, gastroenterology, immunology, surgery, internal medicine·PMC10191482

Hereditary Angioedema Post-liver Transplant

JPGN Reports · 3 authors, 3 centres

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TL;DR

A case report describes an adolescent girl who developed hereditary angioedema (HAE) after receiving a liver transplant as an infant, which was successfully treated with C1 esterase inhibitor replacement therapy.

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This is a case report of a 16-year-old girl who received a liver transplant at 12 months of age for Progressive Familial Intrahepatic Cholestasis type 3. At age 7, she began experiencing intermittent colicky abdominal pain, which became more frequent and disruptive. Diagnostic workup, including complement testing, revealed a low C4 level and deficient C1 esterase inhibitor (C1-INH) level and function, confirming a diagnosis of hereditary angioedema (HAE). Her parents had normal complement levels, suggesting the HAE was acquired from the neonatal donor liver. Treatment with intravenous C1-INH replacement therapy initially twice weekly, then weaned, resolved her abdominal pain. Symptoms recurred after therapy was ceased, prompting reinstitution. The report also notes a correlation between cessation of C1-INH therapy and worsening liver transaminases. Limitations include the single-case nature and the inability to definitively prove the donor had HAE. The case highlights the rare possibility of transmitting hepatic synthesis defects via liver transplantation and the presentation of HAE with abdominal pain in children.

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case_report

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pediatrics

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100% · A

ORIGINAL PAPER

PMC10191482

Hereditary Angioedema Post-liver Transplant

JPGN Reports

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ABSTRACT

Abstract Liver transplantation is the standard of care in managing different types of liver disorders as well as a variety of inborn errors of metabolism. In the latter scenario, the liver-based enzyme abnormality is corrected by transplantation. Although rare, liver transplantation may result in the transmission of an inborn error of metabolism to the recipient. The present report describes the development of acquired hereditary angioedema likely following liver transplantation, with notable improvement with the initiation of C1 esterase inhibitor replacement therapy. This case report describes another example of a hepatic synthesis defect that, although rare, but can be acquired from donor’s livers. Keywords: cholestatic liver disease, Hereditary angioedema, inborn errors of metabolism

CITATION EXPORT

Yusriya Al Rawahi, Melanie Wong, Michael Stormon. Hereditary Angioedema Post-liver Transplant. JPGN Reports. (2021). https://doi.org/10.1097/PG9.0000000000000091

AUTHORS

3 · 3 CENTRES

Yusriya Al Rawahi, Melanie Wong, Michael Stormon

From the *Department of Gastroenterology, The Children’s Hospital at Westmead, Corner Hawkesbury Road and Hainsworth Street, Westmead, NSW
†Department of Immunology, The Children’s Hospital at Westmead, Corner Hawkesbury Road and Hainsworth Street, Westmead, NSW, Australia
‡Department of Child Health, Sultan Qaboos University Hospital, Al-Khoud, Muscat, Oman.