Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.

Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.

Portal Cholangiopathy: An Uncommon Cause of Right Upper Quadrant Pain.

Portal cholangiopathy is one of the complications of the chronic portal vein thrombosis (PVT). Chronic PVT can occur in a patient with acute PVT that usually does not resolve regardless of the treatment. There is a development of collateral blood vessels that bring blood from the portal system towards the liver around the obstruction area, known as the cavernous transformation of the portal vein or portal cavernoma, in a patient with chronic PVT. The appearance and location of collateral channels depends on the extent and location of thrombus in the portomesenteric venous system. If the portomesenteric venous system is occluded near the formation of the portal vein, blood tends to flow through collateral channels that form varices in and around the common bile duct. Portal cholangiopathy (also referred to as portal biliopathy) is common in patients with long-standing chronic PVT. It is due to compression of the large bile ducts by the venous collaterals that form in patients with chronic PVT. Most of the patients with long-standing PVT have portal cholangiopathy. Typically, symptoms of portal cholangiopathy include jaundice, biliary colic, and pruritus. Portal cholangiopathy is a rare complication of chronic portal hypertension, and it is an important differential diagnosis of biliary colic secondary to cholelithiasis. The patient can also present with the sharp right upper quadrant pain, which is atypical by nature for biliary colic.