Lydia A. Mercado

We report a case of significant clinical improvement after starting odevixibat in a 27-year-old patient with refractory pruritus due to progressive familial intrahepatic cholestasis type 1. He had poor response to multiple therapies and experienced profound decline in quality of life, describing his symptoms as emotionally exhausting and difficult to endure. He was evaluated for liver transplantation in March 2020 but was denied due to preserved liver function. Odevixibat was started in November 2021, resulting in biochemical improvement and dramatic sustained resolution of pruritus. He resumed normal activities, achieving excellent quality of life.

Portal vein thrombosis in non-cirrhotic individuals, although uncommon, is an increasingly explored condition that affects mainly young people, consequently representing a significant disease burden. Reports primarily including western European populations have recently shed light regarding the pathophysiology, risk factors, natural history, treatment, and prognosis of this entity. Underlying predisposing conditions are documented in ~70% of cases, encompassing local risk factors, inherited and acquired thrombophilia, cancer, and systemic inflammatory conditions. Non-cirrhotic portal vein thrombosis can cause significant portal hypertension in the acute setting, but, more frequently, significant portal hypertension-related complications arise when the condition becomes chronic and portosystemic collaterals develop, increasing the risk for variceal bleeding and ascites. The diagnostic approach to screen for underlying thrombophilia remains a challenge, and recommendations in this regard, although scarce and backed by scarce evidence, have changed notably in the last years, leaning toward a universal screen in patients who develop this condition without a clear provoking factor. Recently, studies have shown that long-term anticoagulation may be appropriate even in the absence of clear provoking factors or underlying thrombophilia. Future studies should address which patients may benefit from this approach, which patients may not need it, and what the most appropriate strategies are to approach patients who do not recover portal vein patency with anticoagulation to further prevent portal hypertension-related complications.

Autoimmune hepatitis is an immune-mediated inflammatory condition of the liver of undetermined cause that affects both sexes, all ages, races, and ethnicities. Its clinical presentation can be very broad, from having an asymptomatic and silent course to presenting as acute hepatitis, cirrhosis, and acute liver failure potentially requiring liver transplantation. The diagnosis is based on histological abnormalities (interface hepatitis), characteristic clinical and laboratory findings (increased aspartate aminotransferase, alanine aminotransferase, and serum IgG concentration), and the presence of one or more characteristic autoantibodies. The large heterogeneity of these clinical, biochemical, and histological findings can sometimes make a timely and proper diagnosis a difficult task. Treatment seeks to achieve remission of the disease and prevent further progression of liver disease. First-line therapy includes high-dose corticosteroids, which are later tapered to decrease side effects, and azathioprine. In the presence of azathioprine intolerance or a poor response to the standard of care, second-line therapy needs to be considered, including mycophenolate mofetil. AIH remains a diagnostic and therapeutic challenge, and a further understanding of the pathophysiological pathways of the disease and the implementation of randomized controlled trials are needed.