Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Guidelines

Updated: Jul 05, 2022
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD, FACS  more...
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Second International Hereditary Hemorrhagic Telangiectasia Guidelines

In September 2020, the Second International Hereditary Hemorrhagic Telangiectasia (HHT) Guidelines, aimed at developing evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications, were published. [106] The guidelines included the following recommendations.

Management of epistaxis

To reduce HHT-related epistaxis, use moisturizing topical therapies that humidify the nasal mucosa.

Consider oral tranexamic acid (TXA) for epistaxis that does not respond to moisturizing topical therapies.

Consider ablative therapies (eg, laser treatment, radiofrequency ablation [RFA], electrosurgery, and sclerotherapy) for nasal telangiectasias that have not responded to moisturizing topical therapies.

Consider systemic antiangiogenic agents for epistaxis that has not responded to moisturizing topical therapies, ablative therapies, or TXA.

Consider septodermoplasty for epistaxis that has not responded sufficiently to moisturizing topical therapies, ablative therapies, or TXA.

Consider nasal closure for epistaxis that has not responded sufficiently to moisturizing topical therapies, ablative therapies, or TXA.

Management of gastrointestinal bleeding

Esophagogastroduodenoscopy (EGD) is recommended as the first-line diagnostic test for suspected HHT-related bleeding. Patients who meet colorectal cancer screening criteria and patients with SMAD4-HHT (genetically proven or suspected) should also undergo colonoscopy.

Consider capsule endoscopy for suspected HHT-related bleeding when EGD does not reveal significant HHT-related telangiectasia.

Grade the severity of HHT-related gastrointestinal (GI) bleeding according to the following proposed framework: mild (hemoglobin [Hb] goals [reflective of age, gender, symptoms, and comorbidities] met with oral iron replacement); moderate (Hb goals met with intravenous [IV] iron treatment); or severe (Hb goals not met despite adequate iron replacement, or blood transfusions needed).

Use endoscopic argon plasma coagulation only sparingly during endoscopy.

Consider treating mild HHT-related GI bleeding with oral antifibrinolytics.

Consider treating moderate-to-severe HHT-related GI bleeding with IV bevacizumab or other systemic antiangiogenic therapy.

Anemia and anticoagulation

Test for iron deficiency and anemia in all adult HHT patients, regardless of symptoms, and in all pediatric HHT patients with recurrent bleeding and/or symptoms of anemia.

Provide iron replacement for treatment of iron deficiency and anemia as follows: initial therapy with oral iron; IV iron replacement for patients in whom oral iron is not effective, not absorbed, or not tolerated or who are presenting with severe anemia.

Provide red blood cell (RBC) transfusions in the following settings: hemodynamic instability/shock; comorbidities requiring a higher Hb target; need to increase Hb acutely (eg, before surgery or during pregnancy); and inability to maintain adequate Hb despite frequent iron infusions.

Consider evaluation for additional causes of anemia in the setting of an inadequate response to iron replacement.

Provide HHT patients with anticoagulation (prophylactic or therapeutic) or antiplatelet therapy when there is an indication, with individualized bleeding risks taken into consideration; bleeding in HHT is not an absolute contraindication for these therapies.

Where possible, avoid the use of dual antiplatelet therapy (DAPT) and/or a combination of antiplatelet therapy and anticoagulation.

Liver vascular malformations

Offer screening for liver vascular malformations (VMs) to adults with definite or suspected HHT.

Perform diagnostic testing for liver VMs in HHT patients with symptoms and/or signs suggestive of complicated liver VMs, using Doppler ultrasonography (US), multiphase contrast computed tomography (CT), or contrast abdominal magnetic resonance imaging (MRI).

Provide intensive first-line management only for patients with complicated and/or symptomatic liver VMs, and tailored such management to the type of liver VM complication(s).

It is recommended that HHT patients with high-output cardiac failure and pulmonary hypertension be comanaged by the HHT Center of Excellence and an HHT cardiologist or a pulmonary hypertension specialty clinic.

Estimate the prognosis of liver VMs using available predictors so as to identify patients in need of closer monitoring.

Consider IV bevacizumab for patients with symptomatic high-output cardiac failure due to liver VMs who have not responded sufficiently to first-line management.

Refer patients with symptomatic complications of liver VMs (eg, refractory high-output cardiac failure, biliary ischemia, or complicated portal hypertension) for consideration of liver transplantation.

Pediatric care

Offer diagnostic genetic testing for asymptomatic children of a parent with HHT.

Screen for pulmonary arteriovenous malformations (AVMs) in asymptomatic children with HHT or at risk for HHT at the time of presentation/diagnosis.

Treat large pulmonary AVMs and pulmonary AVMs associated with reduced oxygen saturation in children.

Repeat pulmonary AVM screening in asymptomatic children with or at risk for HHT, typically at 5-year intervals.

Screen for brain VMs in asymptomatic children with HHT or at risk for HHT at presentation/diagnosis.

Treat brain VMs with high-risk features.

Pregnancy and delivery

Discuss preconception and prenatal diagnostic options, including preimplantation genetic diagnosis, with HHT-affected individuals.

Perform testing with unenhanced MRI in pregnant women with symptoms suggestive of brain VMs.

For pregnant women with HHT without recent screening and/or treatment for pulmonary AVM:

  • Asymptomatic – Perform initial pulmonary AVM screening with either agitated saline transthoracic contrast echocardiography (TTCE) or low-dose noncontrast chest CT, depending on local expertise; chest CT, if performed, should be done early in the second trimester
  • Symptoms suggestive of pulmonary AVM – Perform diagnostic testing with low-dose noncontrast chest CT; this may be done at any gestational age, as clinically indicated

Treatment of pulmonary AVMs should start in the second trimester unless otherwise indicated.

It is recommended that pregnant women with HHT be managed at a tertiary care center by a multidisciplinary team if they have untreated pulmonary AVMs and/or brain VMs or have not been recently screened for pulmonary AVMs.

Do not withhold an epidural because of a diagnosis of HHT; screening for spinal VMs is not required.

Allow women with known non-high-risk brain VMs to labor and proceed with vaginal delivery; an assisted second stage may be required on a case-by-case basis.