Learning objectives

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

Definition and mechanisms

• 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

Signs and symptoms 

• 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

Complications

• Hemorrhage
• Embolism
• Stroke

Diagnosis

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

• Spontaneous recurrent epistaxis
• Multiple telangiectasias in typical locations
• Proven visceral AVM (lung, liver, brain, spine)
• First-degree family member with HHT

Management

Suggested reading

• Robinson, D., Rogers, B., Kapoor, R., Swan, J., Speas, G., Gutmann, R., 2014. Anesthetic Considerations for a Patient With Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome) Undergoing a Five-Box Thoracoscopic Maze Procedure for Atrial Fibrillation. Journal of Investigative Medicine High Impact Case Reports 2, 232470961455366.