alpha 1-antitrypsin deficiency and idiopathic pulmonary fibrosis in a family

Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease of unknown etiology with an estimated prevalence of 3 to 5 per 100,000. We describe a patient with a family history of both IPF and alpha 1-antitrypsin (AAT) deficiency. The patient had a 6-month history of worsening dyspnea when first seen, and he later died of multisystem organ failure and recalcitrant hypoxemia. He had IPF and AAT deficiency, with the phenotype PiSZ. His father and younger brother died of respiratory failure due to IPF. Other family members are heterozygous for AAT deficiency. A variety of inflammatory diseases have been associated with AAT deficiency, and an association between heterozygous AAT deficiency and IPF has been reported in the literature. Most current theories on the pathogenesis of IPF suggest an aberrant inflammatory response to some stimulus. This family cluster and another reported in the literature suggest that AAT deficiency may be a factor predisposing to inflammatory lung disease manifested by interstitial fibrosis.