Differential diagnosis — HHT · Osler’s disease

  • Chapter: HHT · Osler’s disease

    Article: 7 of 13

    Update: May 06, 2021

  • Author(s): Kühnel, Thomas

The differential diagnosis of hereditary hemorrhagic telangiectasia (HHT) is typically not broad. Clinical findings and history are all-important. Epistaxis, of course, occurs with a lot of pathologies, but in most cases these can be clearly distinguished from the nosebleeds of HHT. For the experienced rhinologist, the efflorescences on the nasal mucosa can be differentiated from vascular ectasias of other diseases. The organ manifestations, predominantly in the lungs and liver, can also be attributed with great certainty, provided the medical history has been meticulously recorded. In cases of doubt, human genetic/molecular genetic testing can provide more clarity.

It is important to distinguish the classic forms of HHT from the rare special form juvenile polyposis-HHT  (JPHT) overlap syndrome, which accounts for 2% of HHT cases and affects carriers of SMAD4 mutations.