Hereditary telangiectasia is a vascular dysplasia
leading to telangiectasias and arteriovenous malformations of skin, mucosa,
and viscera (especially tongue, lips, face, ears, and fingers), with a
jaundiced appearance to the skin. Epistaxis and gastrointestinal bleeding
are frequent complications of mucosal involvement. Visceral involvement
includes that of the lung, liver, and brain. It may be difficult to
differentiate from the CREST (calcinosis cutis, Raynaud phenomenon,
esophageal motility disorder, sclerodactyly, and telangiectasia) syndrome.
It is often associated with von Willebrand disease. The angiographic methods
can demonstrate various types of visceral angiodysplasia, including arterial
aneurysm, arteriovenous communication, including direct arteriovenous
fistulas, conglomerate masses of angiectasia, phlebectasia, and angiomas.
Pulmonary arteriovenous malformations may be life-threatening. Some are large
enough to cause heart failure, polycythemia, and clubbing. Paradoxical
emboli may cause abscess and infarction in the brain. Cirrhosis of the liver
may occur with hepatic portocaval shunts of sufficient magnitude to cause
repeated episodes of encephalopathy and esophageal varices. The
arteriovenous malformations are also renal with episodic hematuria from
mucosal telangiectasias and renal colic caused by clots. Migraine headaches
are very common. The eyes are involved by conjunctival telangiectasia and
retinal vascular malformations, but visual loss is rare. Danazol, a weak
synthetic androgen, may be a good treatment for immobilization of the major
arteriovenous malformations.