A 27-year-old man presented with portal hypertension and cirrhosis complicated by hepatopulmonary syndrome (HPS). The patient’s liver biopsy findings were consistent with alpha-1 antitrypsin deficiency (AATD).
“HPS is a serious complication of chronic liver disease, characterized by portal hypertension and arterial hypoxemia due to intrapulmonary vascular dilatation,” the authors stated in the case report published in BMJ Case Reports.
The patient had progressive dyspnea on exertion and deterioration in mobility. He was diagnosed with type 1 respiratory failure and increased oxygen demand, which was treated with continuous positive airway pressure.
A possible right-to-left shunt was observed on a bubble echocardiogram. Findings on a computed tomography (CT) aortogram suggested portal hypertension and cirrhosis.
Read more about AATD etiology
The patient was assessed and considered for liver transplantation, and he was discharged with 8 L home oxygen.
AATD is an autosomal codominant genetic condition that increases the risk of developing nonalcoholic liver disease at any age.
Patients with AATD have dysfunctional alpha-1 antitrypsin (AAT), a protein produced by the liver that has a protective role in the lung tissues. It neutralizes the role of neutrophil elastase, a protease secreted by macrophages and neutrophils in response to infection or during exposure to inflammatory irritants. Neutrophil elastase destroys pathogens; however, it also destroys host tissue.
The abnormal AAT protein in AATD is not properly released into the bloodstream. Consequently, it is retained by the liver where it contributes to the development of liver disease.
The levels of AAT in the lungs of patients with AATD range from minimal to completely absent, which increases the likelihood of chronic lung inflammation and disease, such as emphysema, chronic obstructive pulmonary disease (COPD), and chronic bronchitis.
Miah N, Ryan A, Oztumer CA, Saleh M. First presentation of portal hypertension complicated by hepatopulmonary syndrome. BMJ Case Rep. 2021;14(9):e244712. doi:10.1136/bcr-2021-244712