Abstract Alpha-1-Antitrypsin (AAT) deficiency and sarcoidosis are two rare systemic diseases frequently leading to pulmonary involvement. The first one, frequently underdiagnosed and with a broad clinical spectrum, consists of an imbalance between neutrophil elastase and its counterpart, AAT, a protein made to avoid health tissue damage; the latter provokes a chronic inflammation in the form of non-necrotizing epithelioid granulomas in response to unknown triggers. We still don’t know so much about the implications of an eventual coexistence of these diseases. Our case is about R.F., a white woman in her 50s with asthma-like symptoms after a viral illness, fatigue and multiple arthralgias associated with stiffness. Never smoker, profession hair stylist, mild obese recently diagnosed with type 2 diabetes and atopic, she denied any familiar or personal respiratory history. A serum electrophoresis showed a decrease in alpha-1 band, thus she underwent a genetic analysis leading to diagnosis of “Pi*MZ” (heterozigosis mutation) AATD. Serum levels of AAT was 80 mg/dL, in presence of normal CRP (C reactive protein); a mild increase in AST (aspartate transaminase) and ALT (alanine transaminase) was seen. Respiratory functional tests were normal; a metacholine challenge test was positive at 4th diluition (377 mcg); abdominal ultrasound showed hepatic steatosis. A chest CT scan showed diffuse mediastinal lymphadenopathy and multiple parenchimal micronodules, so we performed an EBUS-TBNA (endobronchial ultrasound-guided transbronchial needle aspiration) and a bronchoalveolar lavage, coherent with pulmonary sarcoidosis. We prescribed as-needed asthma therapy and dietotherapy as well, in order to counteract obesity pro-inflammatory Th1 milieu, strong independent risk factor for sarcoidosis also represented in AATD patients with normal lung function. We chose not to start systemic steroid therapy yet, avoiding a potential glycometabolic imbalance since, until proven otherwise (ophtalmological and cardiovascular evaluations still need to be carried out), actual organ involvement seems to be mild. Further hepatological assessments will be necessary, given a major risk of liver disease in presence of multiple known risk factors (sarcoidosis, AATD, but also metabolic syndrome). On AATD side, at time of writing this patient doesn’t need an augmentation therapy, but what about her prognosis? Further research is needed to better comprehend if AATD patients could be prone to bigger clinical instability in presence of sarcoidosis inflammatory booster, hence deeper organ reshaping and faster functional worsening; should we start earlier anti-inflammatory treatment despite of organ involvement, and/or an earlier augmentation therapy despite of AAT blood amounts? This abstract is funded by: None
Franciosa et al. (Fri,) studied this question.