Article
Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report.
International journal of molecular sciences - 20 Jun 2026
Finamore Panaiotis, Santangelo Simona, Gallo Paolo, Ferrarotti Ilaria, Balderacchi Alice Maria, Falcomatà Andrea, Colombo Daniele, Del Nonno Franca, Vespasiani-Gentilucci Umberto, Antonelli Incalzi Raffaele, Scarlata Simone
Abstract excerpt
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...
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