ALGS Insights

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…

Von Willebrand Disease

A Rare Co-occurrence of Alagille Syndrome and von Willebrand Disease

In the South African Journal of Child Health, Dempster and colleagues detail the case of a patient who was simultaneously diagnosed with 2 rare disorders: Alagille syndrome and von Willebrand disease.  A 17-year-old female patient presented with hypochromic anemia and splenomegaly. She had been diagnosed with Alagille syndrome in infancy due to having characteristic features…

Next post in ALGS Insights