Combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Sophie Mercier (1), Nicolas Janin (2) Published in the journal : May 2023 Category : Chirurgie orthopédique et traumatologie

Summary :

Combined juvenile polyposis/hereditary hemorrhagic telangectasia (JP/HHT) syndrome is a rare genetic disorder associating both the development of hamartomatous polyps in the gastrointestinal tract and the Rendu-Osler-Weber disease. Patients affected by these two pathologies are exposed to an increased risk of digestive tract cancers and vascular malformations.

In this article, we present the case of a 73-year-old patient diagnosed with juvenile polyposis at the age of 67, following a bifocal left colon cancer. During his lifetime, this patient presented numerous epistaxis episodes without a clearly identified cause. Because his eldest daughter also suffered from repeated episodes of epistaxis, a genetic origin was then suggested.

In order to properly organize the follow-up of their patients, it is important that practitioners likely to see a person suffering from JP/HHT in consultation take into account the possibility that this person might suffer from the JP/HHT syndrome.

What is already known about the topic?

The JP/HHT syndrome is an autosomal dominant disease promoting both the formation of hamartomatous polyps within the digestive tract and vascular dysplasia. Its diagnosis is uneasy and patients affected by this condition are exposed to life-threatening complications in the absence of treatment.

What does this article bring up for us?

This article describes the genetic origin of the pathology as well as its different presentations and possible complications. It presents a clinical case illustrating the difficulty of diagnosis, as well as the importance of genetic screening. Finally, it details the monitoring and treatments of the possible complications of this genetic condition.

Key Words

Juvenile polyposis syndrome, hereditary hemorrhagic telangiectasia, SMAD 4, vascular dysplasia, hamartomatous polyps, epistaxis