Doctor of Osteopathic Medicine Community Health Network Indianapolis, Indiana
Introduction: Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant inherited disorder with several clinical manifestations including lung and liver disease. A rare and less well-established complication of AATD in patients with the PI*ZZ phenotype is recurrent venous thromboembolism (VTE). This case is of a 41-year-old male who presented with unexplained VTE and a delayed diagnosis of AATD with PI*ZZ phenotype. The case exemplifies the importance for clinicians to maintain a high index of suspicion for AATD in a young patient with recurrent VTE to prevent delays in diagnosis and treatment.
Case Study: A 41-year-old male with history of tobacco and alcohol use presented as a new patient to the PCP office with 4 weeks of right lower extremity swelling. Right lower extremity ultrasound revealed extensive DVT involving all visualized deep veins. The patient was sent to the ER for anticoagulation and further imaging showed non-sub massive bilateral pulmonary emboli. The patient’s hematological workup was negative for any predisposing factors for recurrent clotting. Over the next few months, the patient suffered recurrent lower extremity thrombosis despite anticoagulation, requiring multiple thrombectomies. During this time, the patient experienced ongoing dyspnea on exertion, temporarily relieved by OMT, and unrelieved by inhaler trials to treat COPD and asthma. Subsequent dyspnea workup with pulmonary function testing revealed severe obstructive ventilatory defect and AATD testing was positive with PI*ZZ phenotype. This diagnosis suggests the patient was experiencing a rare complication of AATD, recurrent VTE, for which the patient will require life-long anticoagulation. After a diagnosis was made, the patient was started on treatment with Prolastin injections to mitigate the systemic effects of AATD.
Discussion: Vascular complications, notably venous thromboembolism, are rare and under-established complications of the AATD PI*ZZ phenotype. Previous case reports have linked a diagnosis of AATD and a history of pulmonary embolism, however, there are no reports that comment on the recurrence of thrombotic events and the impact on quality of life for patients, particularly at this young age. Although emphysema and cirrhosis are the most common systemic manifestations in the setting of AATD, this case highlights that clinicians should maintain a high index of suspicion for AATD in patients with unexplained and recurrent unprovoked clotting events, simultaneously considering age, social history, and past medical history. This case report aims to bring awareness to this rare complication of AATD, and to the clinical suspicion necessary for timely diagnosis, treatment, and prevention to improve patients’ quality of life.
