Overview of the incidence, presenting findings, evaluation, and management of the major clinical features of hereditary hemorrhagic telangiectasia (HHT)

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.
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.
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.
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.
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.
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.

Less-common clinical manifestations include AVMs in other sites, high cardiac output states, and pulmonary hypertension. Refer to UpToDate for additional details of our approach.

AVM: arteriovenous malformation; CT: computed tomography; MRI: magnetic resonance imaging.

Adapted and updated from the original table in: Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54:714.

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Overview of the incidence, presenting findings, evaluation, and management of the major clinical features of hereditary hemorrhagic telangiectasia (HHT)