Site | Incidence | Presentation patterns | Evaluation | Treatment |
Nasal telangiectasia | >90% | Nose bleeds are usually the first manifestation of HHT, frequently commencing in childhood. | History, inspection | - Routine therapy includes nasal lubrication and treatment of iron deficiency when needed.
- Laser treatment is generally preferred over cauterization.
- Surgery in expert hands offers good results for selected patients.
- Medical (systemic) treatments are an alternative and may be highly beneficial, but carry risks of prothrombotic side effects.
- Emergency treatments such as packing may be required.
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Mucocutaneous telangiectasia | 50 to 80% | Increase in size and number with age. Main concerns are cosmetic. May hemorrhage. | Inspection (oral, mucosa, conjunctivae, face, trunk, extremities, nail beds) | - Generally not indicated, but laser therapy can be used.
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Gastrointestinal telangiectasia | 11 to 40% | Onset generally over 30 years: Iron deficiency anemia, occasionally acute gastrointestinal hemorrhage. | Flexible endoscopy, endoscopy angiogram, capsule endoscopy | - Iron supplementation and transfusion are the mainstays of treatment.
- Medical (systemic) treatments are available and may be highly beneficial, but they carry risks of prothrombotic side effects.
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Pulmonary AVMs | >50% | Usually silent. Cyanosis, clubbing, bruit, dyspnea, paradoxical embolism, cerebral abscess. | Chest radiography, blood gas measurement, helical CT, angiography, chest echocardiography | - Therapeutic embolization.
- Antibiotic prophylaxis for dental and surgical procedures.
- Surgical resection may be indicated in highly selected cases.
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Cerebral AVMs | 10 to 15% | Usually silent. Headache, epilepsy, ischemia, intracerebral hemorrhage. | CT, MRI, Doppler sonography, angiography | - Most do not require treatment.
- Therapeutic embolization, neurovascular surgery, or stereotactic radiosurgery in highly selected cases.
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Hepatic AVMs | 30 to 70% | Usually silent. Hepatic artery-hepatic vein AVMs: Hyperdynamic circulation. Portasystemic shunts: Ascites and encephalopathy. | Doppler sonography, CT, MRI | - Most do not require treatment.
- For the small proportion of patients who develop symptoms, standard hepatic medical care is often sufficient to resolve symptoms.
- Liver transplantation in selected cases.
- Embolization is a higher-risk procedure; some centers do not perform embolization unless the patient is accepted into a liver transplantation program.
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