Alpha 1-antitrypsin deficiency in pulmonary langerhans cell histiocytosis. A case report

The association between Pulmonary Langerhans Cell Histiocytosis (PLCH) and Alpha 1-Antitrypsin De- ficiency (AATD) is currently undefined; in fact, the largest scientific study available in literature was per- formed on 50 patients. A man with a diagnosis of PLCH since 20 years, came to our pulmonary clinic for dyspnea on exertion (mMRC 2). Global spirometry showed mild obstructive ventilatory deficit with air trapping indices on ni- trogen washout test. Single-breath DLCO showed a level at the lower limits of normal. HRCT showed pan- lobular emphysema and multiple pseudo-nodules in continuity with fibrotic striae and traction bronchio- lectasis in the upper lobes. Serum alpha1-antitrypsin determination showed intermediate deficiency. Gene sequencing showed heterozygosity for the deficient Z allele (PI*MZ). Scientific studies of larger case series of patients with PLCH are necessary to define the true prevalence of AATD in this disease and if this association causes more severe functional deficits, because in selected cases treatment with replacement therapy should be considered.