A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report

Miguel Afonso; Clara Silva; Inês Pinho; Artur Vale; Ana Fernandes

doi:10.36141/svdld.v37i4.9877

A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report

Sarcoidosis Vasc Diffuse Lung Dis. 2020;37(4):e2020019. doi: 10.36141/svdld.v37i4.9877. Epub 2020 Dec 16.

Authors

Miguel Afonso¹, Clara Silva², Inês Pinho³, Artur Vale¹, Ana Fernandes¹

Affiliations

¹ Department of Pulmonology at Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal.
² Department of Internal Medicine at Centro Hospitalar Universitário de São João, Porto, Portugal.
³ Liver Unit, Department of Internal Medicine at Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal.

Abstract

Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant disease, and different genetic variants are known, some of which very rare. Usual pulmonary manifestations include emphysema, bronchiectasis and asthma. Pulmonary fibrosis is uncommon. We describe a case of a 64 year old man with an inaugural diagnosis of cirrhosis and lung fibrosis, without emphysema or bronchiectasis, associated with AATD. Further investigation identified a rare variant in heterozigosity (MM_Palermo), usually associated with liver disease. Concomitantly, he had a secondary iron overload, and in the course of the investigation, a type 2 diabetes mellitus installed. The association between AATD and pulmonary fibrosis is rare, however it has been identified in a few studies and case reports, questioning the role of AAT in pulmonary fibrosis. (Sarcoidosis Vasc Diffuse Lung Dis 2020; 37 (4): e2020019).

Keywords: Alpha1-antitrypsin deficiency; liver diseases; pulmonary fibrosis.

Publication types

Case Reports