A rare autosomal dominant dominant disorder involving blood vessels throughout the body and results in a tendency of bleeding. Abnormal blood vessels are formed in the skin, mucous membranes and sometimes in organs such as liver, lungs and brain.
Cause(s) :
Gene mutation
Symptoms :
Small blood vessel formations - Telangiectasias - in the mucosal linings of nose and GI tract
Epistaxis - nosebleeds
Vascular formations in skin of lips, nose, fingers and face
Bloody vomiting and black stool when the lesions of the GI tract bleed
Iron-deficiency anemia
Arteriovenous malformation in larger organs such as lungs, liver and brain, rarely in spinal cord
Arteriovenous malformations may occasionally exert pressure, leading to headaches
Risk of seizures
Hemorrhage from an arteriovenous malformation may lead to intracerebral hemorrhage and stroke
Less common associated problems:
Multiple benign polyps in the large intestine
Pulmonary hypertension
Peripheral edema, chest pain due to pressure on the right side of the heart
Diagnosis and Tests :
Clinical examination for telangiectasias
Endoscopy
Laryngoscopy
Esophagogastroduodenoscopy (endoscopy of esophagus, stomach and first of the three parts of small intestine)
Capsule endoscopy
Detailed medical imaging of organs at risk for arteriovenous malformations
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Careers
