Clinical presentation — HHT · Osler’s disease

  • Chapter: HHT · Osler’s disease

    Article: 4 of 13

    Update: Mai 06, 2021

  • Author(s): Kühnel, Thomas

The vascular changes that develop on the basis of the genetic alterations in HHT can be very small in the form of dilated microvessels or several centimeters in diameter in the form of arteriovenous malformations (AVM) or fistulas. They occur in clusters at certain sites in the vascular system. Osler’s disease spots of the nasal mucosa can be identified clinically with relative certainty despite their various manifestations. Nasal endoscopic images show typical spots and their distribution in the nose.

Raised and flat, tangle-like and radially arranged vessels are found in the nose, usually with a bright red color. They may become confluent or appear as well-circumscribed lesions.

Pulmonary arteriovenous malformations (pAVM) either attract attention because of dyspnea or, more dangerously, are discovered only as a result of brain abscess.

For hepatic vascular malformations (arteriovenous, arterioportal, and portovenous shunts), postprandial capsular pain is the typical symptom.

Video: Rhinoscopy of a nose with Osler spots of different degrees of maturity © Kühnel