Conservative measures such as intranasal emollients and humidification of indoor air can help minimize bleeding in many patients. Patients who have persistent bleeding that interferes with daily activities or causes transfusion-dependent anemia should be evaluated by a rhinologist with experience with HHT. Laser coagulation of bleeding telangiectases can stem hemorrhage, at least for a time. Septal dermoplasty, using the patient’s skin, can provide longer-term relief, but eventually telangiectases appear on the surface of the skin. Some patients have benefited from off-label use of thalidomide or bevacizumab (Avastin), but controlled trials are just beginning.
Lesions with a feeding artery of greater than 1 mm should be considered for occlusion using a coil that incites a thrombus. A PAVM with a large feeding artery, or a complex AVM, may require occlusion with an Amplatzer device. Occlusion of multiple lesions can be accomplished in one outpatient procedure. Occlusion of peripheral PAVMs may result in transient pleuritis. Imaging of occluded PAVMs should be performed by CTA after 6 months to ensure persistent occlusion. Lesions too small to treat should be imaged periodically (every 3-5 years) by CTA because expansion can occur.
Several types of abnormal vascular connections can occur, including hepatic artery to hepatic vein, hepatic artery to portal vein, hemangiomas, and diffuse telangiectases. The clinical syndrome depends on the type of abnormal connection and the size of the shunt. Hepatocyte dysfunction should be treated by standard approaches. Often a picture of multinodular cirrhosis, resembling hepatoma, develops; liver biopsy should be avoided because of the risk of severe bleeding. Liver transplant can be used for end-stage disease. Some patients have benefited from off-label use of thalidomide or bevacizumab (Avastin), but controlled trials are just beginning.
Blood loss from the GI tract before middle age is uncommon. Thereafter occult and chronic blood loss can occur. Testing stool for heme is not helpful since most patients regularly swallow blood from epistaxis. Upper and lower endoscopy can be used to detect telangiectases and to exclude an ulcer or a tumor, but ablation of telangiectases is rarely helpful because of their number and tendency to emerge persistently. Similarly, push enterostomy and capsule endoscopy can detect mucosal lesions but rarely visualize a lesion bleeding so actively that surgical therapy would be warranted.
Lesions in the mouth occasionally bleed and can be treated with laser cautery. Lesions on the face bleed recurrently from shaving and can also be cauterized. Otherwise, lesions are primarily of cosmetic concern.
Anyone suspected of HHT should undergo noncontrast MRI imaging. Neurosurgical or neurovascular consultation should be sought for any patient with an aneurysm, hemangioma, or AVM detected. Similarly, a cerebral abscess should prompt neurosurgical and infectious disease consultation, and a search for a PAVM.
The hemoglobin should be checked periodically in any patient with HHT, frequently with active epistaxis or known anemia. Iron deficiency is common, particularly in premenopausal women. Aggressive iron replacement, first orally and if ineffective or not tolerated, intravenously, should be undertaken. If the hemoglobin cannot be maintained greater than 9 to 10 g/dL, then transfusions of packed red cells are necessary. Transfusion dependency should prompt consideration of aggressive treatment of epistaxis or GI bleeding as described earlier.