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Hereditary hemorrhagic telangiectasia

Key sources
The following summarized guidelines for the evaluation and management of hereditary hemorrhagic telangiectasia are prepared by our editorial team based on guidelines from the Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG 2020), the American College of Gastroenterology (ACG 2020; 2015), and the European Association for the Study of the Liver (EASL 2016).
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Guidelines

1.Screening and diagnosis

Indications for screening: as per HHT-WG 2020 guidelines, screen asymptomatic children of a parent with HHT for HHT with genetic testing.
A
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  • Diagnosis

2.Classification and risk stratification

Severity grading: grade the severity of HHT-related gastrointestinal bleeding according to the following framework (hemoglobin goals should reflect age, gender, symptoms, and comorbidities):
Situation
Guidance
Mild
Hemoglobin goal is met with oral iron
Moderate
Hemoglobin goal is met with IV iron
Severe
Hemoglobin goal is not met despite adequate iron replacement, or blood transfusions are required
B

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  • Prognostic assessment

3.Diagnostic investigations

Genetic testing
Refer patients for genetic testing for HHT:
to identify the causative mutation in a family with clinically confirmed HHT
to establish the diagnosis in relatives of a patient with a known causative mutation, including asymptomatic or minimally symptomatic patients and patients desiring prenatal testing
to assist establishing the diagnosis in patients not meeting clinical diagnostic criteria
B
Consider SMAD4 testing to identify the causative mutation in patients tested negative for ENG and ACVRL1 coding sequence mutations.
C

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  • Diagnostic imaging

  • Evaluation for VMs (liver)

  • Evaluation for VMs (pulmonary)

  • Evaluation for VMs (brain)

  • Evaluation for iron deficiency and anemia

4.Diagnostic procedures

Upper and lower gastrointestinal endoscopy: perform upper gastrointestinal endoscopy as first-line diagnostic modality in patients with suspected HHT-related bleeding.
B
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  • Liver biopsy

5.Medical management

Topical therapies for epistaxis: advise using moisturizing topical therapies that humidifying the nasal mucosa to reduce epistaxis in patients with HHT-related epistaxis.
B

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  • Anticoagulation and antiplatelet therapy

  • Antifibrinolytic therapy

  • Antiangiogenic therapy

  • Iron replacement

6.Therapeutic procedures

Red blood cell transfusion: perform RBC transfusions in patients with HHT in the following settings:
hemodynamic instability/shock
comorbidities requiring a higher hemoglobin target
need to increase the hemoglobin acutely, such as before surgery or during pregnancy
inability to maintain an adequate hemoglobin despite frequent iron infusions
B

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  • Endoscopic argon plasma coagulation

  • Transcatheter embolotherapy

7.Surgical interventions

Surgical management of epistaxis, ablative therapies: consider performing ablative therapies for nasal telangiectasias, including laser treatment, radiofrequency ablation, electrosurgery, and sclerotherapy, in patients with HHT failed to respond to moisturizing topical therapies.
C

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  • Surgical management of epistaxis (septodermoplasty)

  • Surgical management of epistaxis (nasal closure)

  • Liver transplantation

8.Specific circumstances

Patients with vascular malformations, liver, ACG: offer standard medical therapy for each complication of liver VMs in patients with HHT, which results in symptom resolution in the majority.
B
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  • Patients with VMs (pulmonary)

  • Patients with VMs (brain)

  • Pregnant patients

  • Pediatric patients

9.Patient education

Preconception and prenatal counseling: discuss preconception and prenatal diagnostic options, including preimplantation genetic diagnosis, with patients with HHT.
B