A diagnostic dilemma: case study of a 36-year-old female with alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency is a genetic disorder that presents as early-onset emphysema in its most severe form. A high index of clinical suspicion is needed in cases of lung or liver disease of unknown etiology or a suggestive history and physical examination. Low or absent serum levels of alpha-1-antitrypsin levels identify persons with the disease and phenotyping is the confirmatory test. The main goal of management is attempting to prevent or slowing the progression of damage to the lungs. Medical and surgical options for treatment include augmentation therapy that maintains protective levels of AAT in the lung and serum and lung transplantation may be necessary in severe cases. We present this case report of a patient with Alpha-1-antitrypsin deficiency in order to increase awareness of this condition since early diagnosis improves long-term prognosis and reduces the overall cost of therapy.