A 17-year-old Indian female presented with co-occurring Alagille syndrome (ALGS) and von Willebrand disease (vWD). The likelihood of having both genetic conditions is extremely low, according to a case report published in the South African Journal of Child Health.

The patient was diagnosed with ALGS during infancy. The diagnosis was based on phenotypic criteria (ie, cholestasis, facial features, butterfly vertebra at T11, and peripheral pulmonary artery stenosis). Her most recent analysis showed normal bilirubin levels and mild derangement of transaminases.

The patient had no sonographic evidence of portal hypertension on ultrasound examination. Her diagnosis of congenital vWD was based on her family history and confirmed through blood tests. Measurements of von Willebrand factor (vWF) activity, vWF antigen level, and factor VIII (FVIII) activity indicated a severe form of the disease.

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Her symptoms were successfully managed with desmopressin. She did not report any life-threatening bleeding episodes.

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At the time of clinical admission, the patient presented with hypochromic anemia and splenomegaly. “The
underlying pathologies, combined with the observed splenomegaly and hypochromic anemia, raised concern of esophageal varices and a potential life-threatening hemorrhage,” the authors said.

Esophagogastroduodenoscopy showed a small hiatus hernia, but no visible varices. The clinical team concluded that hypochromic anemia was secondary to heavy menstrual bleeding. They added oral iron supplementation to her treatment regimen and the anemia was resolved in 4 months.

“An uncontrollable upper gastrointestinal bleed secondary to esophageal varices is a potentially life-threatening situation in a patient with co-occurring vWD and ALGS, and there is also a risk of variceal development from increased portal hypertension in chronic liver disease,” the authors alerted.

Despite the successful management of this patient, in case of an acute bleeding episode, the authors conclude it is imperative to get emergency treatment immediately.


Dempster MJ, Jacobson BF, Walabh P. Alagille syndrome and hereditary von Willebrand disease: a rare co-occurrence. South African J Child Heal. 2021;15(3):175-178. doi:10.7196/SAJCH.2021.v15.i3.1820