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Published on: June 9, 2018
Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered
Panaiotis Finamore1, Simona Santangelo1, Paolo Gallo2
1Unit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Abstract:
Alpha-1 antitrypsin deficiency (AATD) is a genetically heterogeneous disorder with well-established pulmonary and hepatic manifestations; however, the clinical significance of rare compound heterozygous SERPINA1 variants remains incompletely defined. We report the case of a 61-year-old never-smoking woman with chronically elevated liver transaminase who was found to carry a compound heterozygous SERPINA1 genotype (PI*V/Mprocida) previously classified as non-polymerogenic and not previously associated with hepatic inclusions. This case expands the phenotypic spectrum of AATD and highlights the importance of considering SERPINA1 genotyping in adults with unexplained chronic transaminase elevation, while raising clinically relevant questions regarding surveillance and management in atypical AATD phenotypes.
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