Table 5. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Epistaxis / Other bleeding / Anemia	Assess for history of epistaxis & GI bleeding. Physical exam for telangiectases	Also consider other causes of anemia if disproportionate to the amt of epistaxis; medical problems unrelated to HHT (e.g., ulcers, colon cancer) can cause GI blood loss.
Complete blood count to assess for anemia &/or polycythemia	Polycythemia raises suspicion for pulmonary AVMs.
Ferritin level to assess for iron deficiency
AVMs	Assess for history of heart, lung &/or liver diseases & neurologic symptoms.	Heart failure secondary to liver AVMs TIA, stroke, dyspnea, migraines, hemoptysis secondary to pulmonary AVMs
Pulmonary AVMs / Pulmonary arterial hypertension	In those diagnosed in adulthood: TCE w/agitated saline contrast for detection of pulmonary shunting/AVMs, w/measurement of pulmonary artery systolic pressure	When pulmonary shunting is suggested by TCE: CT angiography w/cuts ≤3 mm to define size & location of lesions(s)
In those diagnosed in childhood: TCE w/agitated saline contrast OR Chest radiograph w/pulse oximetry; if chest radiograph is abnormal or oxygen saturation is <96%, proceed w/TCE w/agitated saline contrast.	Most serious complications of pulmonary AVM during childhood have occurred in hypoxemic children.
Hepatic AVMs	Options in adults: Clinical screening (e.g., history & physical exam) Doppler ultrasound (best option when local expertise is available) Multiphase contrast CT Contrast abdominal MRI	There is no consensus regarding imaging for hepatic AVMs in asymptomatic persons because: Hepatic AVMs are not usually symptomatic & when they do become symptomatic, it is not sudden & catastrophic Treatment options for hepatic AVMs are less satisfactory than those for pulmonary or cerebral AVMs.
Cerebral AVMs	Head MRI (w/& w/o contrast using sequences that detect blood products) to assess for AVMs	As early as possible, preferably in 1st yr of life In all persons at diagnosis (incl adults)
SMAD4-HHT	See Juvenile Polyposis Syndrome, Evaluations Following Initial Diagnosis for additional recommendations.	Colonoscopy at age 15 yrs; rpt every 3 yrs if no polyps found, or annually w/EGD if colonic polyps are identified [Faughnan et al 2020].
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of HHT in order to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Epistaxis /
Other bleeding /
Anemia

Assess for history of epistaxis & GI bleeding.
Physical exam for telangiectases

Also consider other causes of anemia if disproportionate to the amt of epistaxis; medical problems unrelated to HHT (e.g., ulcers, colon cancer) can cause GI blood loss.

Complete blood count to assess for anemia &/or polycythemia

Polycythemia raises suspicion for pulmonary AVMs.

Ferritin level to assess for iron deficiency

AVMs

Assess for history of heart, lung &/or liver diseases & neurologic symptoms.

Heart failure secondary to liver AVMs
TIA, stroke, dyspnea, migraines, hemoptysis secondary to pulmonary AVMs

Pulmonary AVMs /
Pulmonary arterial
hypertension

In those diagnosed in adulthood: TCE w/agitated saline contrast for detection of pulmonary shunting/AVMs, w/measurement of pulmonary artery systolic pressure

When pulmonary shunting is suggested by TCE: CT angiography w/cuts ≤3 mm to define size & location of lesions(s)

In those diagnosed in childhood:

TCE w/agitated saline contrast OR
Chest radiograph w/pulse oximetry; if chest radiograph is abnormal or oxygen saturation is <96%, proceed w/TCE w/agitated saline contrast.

Most serious complications of pulmonary AVM during childhood have occurred in hypoxemic children.

Hepatic AVMs

Options in adults:

Clinical screening (e.g., history & physical exam)
Doppler ultrasound (best option when local expertise is available)
Multiphase contrast CT
Contrast abdominal MRI

There is no consensus regarding imaging for hepatic AVMs in asymptomatic persons because:

Hepatic AVMs are not usually symptomatic & when they do become symptomatic, it is not sudden & catastrophic
Treatment options for hepatic AVMs are less satisfactory than those for pulmonary or cerebral AVMs.

Cerebral AVMs

Head MRI (w/& w/o contrast using sequences that detect blood products) to assess for AVMs

As early as possible, preferably in 1st yr of life
In all persons at diagnosis (incl adults)

SMAD4-HHT

See Juvenile Polyposis Syndrome, Evaluations Following Initial Diagnosis for additional recommendations.

Colonoscopy at age 15 yrs; rpt every 3 yrs if no polyps found, or annually w/EGD if colonic polyps are identified [Faughnan et al 2020].

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of HHT in order to facilitate medical & personal decision making

From: Hereditary Hemorrhagic Telangiectasia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.