The combined syndrome of juvenile polyposis / inherited hemorrhagic telangiectasia (JD-HHT Syndrome) is rare, caused by mutations in the MADH4 gene. Affected individuals exhibit the clinical manifestations of both pathologies and are at increased risk of gastrointestinal cancer (1).
We report the case of a 41-year-old woman with Osler-Weber-Rendu disease, or hereditary hemorrhagic telangiectasia, who presented with severe pain in the right hypochondrium. The clinical investigations showed the presence of a hepatocellular adenoma, probably induced by prolonged estrogen-progestogen intake. At a later time, genetic analysis revealed that the patient carried a mutation in the MADH4 gene. Afterwards, the patient was found to suffer from colon adenocarcinoma.
Based on this unique case, we describe the features of this rare clinical entity and focus on the role of genetics in the management of patients with juvenile polyposis or Osler -Weber-Rendu disease.
What is already known about the topic?
Juvenile polyposis and inherited hemorrhagic telangiectasia may be part of a combined syndrome in individuals carrying a mutation in the MADH4 gene.
What does this article bring up for us?
Based on a review of the literature, this article provides us with information on this rare clinical entity, while comparing published data and our own obsrvations.
Key Words
Hereditary hemorrhagic telangiectasia, juvenile polyposis, MADH4, SMAD4 , colon adenocarcinoma