Alpha-1 antitrypsin deficiency, SZ phenotype: a rare type of a rare disease. Case report

Alpha-1 antitrypsin deficiency is one of the genetic diseases with a clear impact on the structure and function of the lung, rarely diagnosed and treated. We present the case of a 51-year-old female patient, heavy smoker, known with chronic obstructive pulmonary disease (COPD) for 12 years, untreated, who was hospitalized for the first time in our clinic having symptoms of a severe COPD exacerbation. She has significant cardiac disease (rheumatic mitral disease, with previous episodes of pulmonary edema and cardiac arrest) and hepatitis B. The patient is hypoxic, with severe mixed ventilatory dysfunction. During the hospitalisation she received treatment of the exacerbation and after that she received recommendation of chronic inhaled bronchodilator and corticosteroid treatment. The test for alpha-1 antitrypsin deficiency has detected a plasma of 63 mg/dl, SZ phenotype. The patient returns for a second evaluation. Functional tests are significantly improved (despite inconsistent treatment) with the impressive improvement of FEV7 values and identification by plethysmography of a restrictive syndrome. Echocardiography identifies mitral valve changes likely rheumatic, severe pulmonary hypertension. Computer tomography was performed, highlighting discrete interstitial changes and denying the existence of emphysema. Marked increase in FEV1 values supported adding bronchial asthma to the list of diagnosis and recommendation to continue inhaled corticosteroid combination bronchodilator as treatment. The particularity of the case is the rare phenotype, association of asthma and COPD as the clinical manifestation and the presence of comorbidities, which complicates the diagnosis and prognosis.