Hereditary hemorrhagic telangiectasias

Learning objectives

Signs and symptoms, complications and management of hereditary hemorrhagic telangiectasias (HHT)

Hereditary hemorrhagic telangiectasias HHT causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins
The most common locations affected are the nose, lungs, brain, and liver
These AVMs may enlarge over time and are more prone to hemorrhage
Telangiectasias refers to malformations of small vessels and can be described as dilated arterioles in communication with dilated post-capillary venules
HHT is an autosomal dominant genetic disorder and is also known as Osler-Weber-Rendu disease

Nosebleeds, sometimes daily and often starting in childhood
Abnormal blood vessels (telangiectasia) may appear just underneath the skin, which show as red or purple spots
Red or purple spots usually form on the fingertip pads, the lips, and the lining of the nose or the gut
Iron deficiency anemia
Shortness of breath
Headaches
Seizures
Abnormal artery-vein connections within the brain, lungs, and liver
Iron deficiency anemia

The diagnosis can be made depending on the presence of four criteria, known as the “Curaçao criteria”:

Management