Junction: Hepatology


Alagille Syndrome Associated With High Utilization of Health Care Resources

Patients with Alagille syndrome (ALGS) require many outpatient visits as well as long hospital stays, which contributes to a noteworthy health care resource utilization (HRU) burden, according to a recently published study in The Journal of Pediatrics. Although ALGS has a relatively low birth prevalence of approximately 1 in every 50,000 births, it is a complex…

fatty liver

LAL-D May Contribute to the Development of Atherosclerosis and Fatty Liver Disease

Researchers have proposed that lysosomal acid lipase deficiency (LAL-D) may contribute to the development of atherosclerosis and fatty liver disease, according to a review article published in Frontiers in Genetics. Lysosomal acid lipase (LAL) plays an important role in the hydrolysis of cholesteryl esters. In addition, it cleaves stored cholesteryl esters delivered to lysosomes for…

Alagille Syndrom Prognosis

Improving the Timely Diagnosis of ALGS by Understanding Its Characteristic Features

Congenital genetic diseases sometimes display characteristic clinical manifestations that direct physicians to conduct the necessary tests to arrive at a correct diagnosis. However, other genetic diseases may be more insidious and are diagnosed only later in life (if at all), which means the early window for the initiation of critical medical intervention is missed.  When…

Hepatocellular carcinoma

Patients With LAL-D May Be at an Increased Risk of Hepatocellular Carcinoma

Delaying treatment in patients with lysosomal acid lipase deficiency (LAL-D) may put them at a higher risk of developing liver cancer, according to a study recently published in Medicine. “It is possible that the use of sebelipase alfa can reduce the incidence of neoplasms in affected patients, therefore untreated individuals should be considered at a…

microscope eyepiece

Atypical Focal Choroidal Excavation With a Macular Hole Reported in Patient With ALGS

Researchers reported a case of an unusual focal choroidal excavation (FCE) with a macular hole in a patient with Alagille syndrome (ALGS). The case report noted that FCE is a relatively new disease entity with an unknown origin that has been increasingly reported in other retinochoroidal pathologies, but this is the first known case in…

Next post in ALGS Columns