University of Connecticut Health Center Hartford, CT, United States
Dheera Grover, MBBS1, Sanket Patel, DO1, Radhika Ayyagari, MD2 1University of Connecticut Health Center, Hartford, CT; 2Saint Francis Hospital and Medical Center, Hartford, CT
Introduction: The liver is the second most commonly involved organ in patients with alpha 1 antitrypsin deficiency (A1ATD) secondary to PiSZ phenotype. We report a case of liver cirrhosis decompensated with esophageal variceal bleeding secondary to PiSZ variant without any lung involvement.
Case Description/Methods: 55-year-old male with a history of gastrointestinal bleeding of unclear etiology, chronic normocytic anemia, and thrombocytopenia presented to ED with shortness of breath and melena associated with epigastric discomfort and nausea. He denied use of any NSAIDs, tobacco, alcohol, recreational drugs or recent travel. Work-up for previous episodes of melena included an unrevealing EGD, capsule endoscopy, colonoscopy, bone marrow biopsy and flow cytometry. In the ED, he was hypotensive, tachycardic with pallor on physical examination. Rectal examination revealed melenic stools. Laboratory investigations showed a Hb 8.9 g/dl, MCV 93.8 fL, platelet count 70,000 k/uL, INR 1.4, and normal iron studies. He was resuscitated, started on PPI, and an octreotide drip. Emergent EGD revealed large type 2 gastroesophageal varices without active bleeding in the lower third of esophagus requiring banding without evidence of portal hypertensive gastropathy. CT abdomen with IV showed nodular liver with splenomegaly, gastric varices with a patent portal vasculature. HIV and viral hepatitis serologies were negative. AMA, ANA, anti-smooth muscle antibody, 24-hour urine copper levels, and ceruloplasmin were normal. Alpha 1 antitrypsin (AAT) levels were decreased to 73 mg/dl. Phenotype studies showed a PiSZ variant of AAT. Liver biopsy showed bridging fibrosis, nodularity consistent with cirrhosis. It also showed diastase resistant PAS positive globules scattered through the parenchyma, especially in peri-septal regions confirming the diagnosis. Indirectly measured portosystemic gradients were elevated. Patient was listed and received a liver transplant. and TIPS with anterograde varices embolization was done as he developed paraoesophageal varices in addition to perigastric ones.
Discussion: The case reported is an atypical presentation occuring in a middle-aged patient with decompensated liver cirrhosis secondary to PiSZ variant without any lung involvement. The PAS positive and diastase resistant inclusions on liver biopsy is gold standard for diagnosis. There are no treatment options for liver involvement in A1ATD. These patients must be monitored closely and promptly evaluated liver transplantation when appropriate.
Disclosures: Dheera Grover indicated no relevant financial relationships. Sanket Patel indicated no relevant financial relationships. Radhika Ayyagari indicated no relevant financial relationships.
Dheera Grover, MBBS1, Sanket Patel, DO1, Radhika Ayyagari, MD2. P1914 - An Unusual Genetic Defect Causing a Well Known Disease!, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.