Table 7. [Recommended Surveillance for Individuals with Hereditary Hemorrhagic Telangiectasia]. - GeneReviews®

System/Concern	Evaluation	Frequency
General	Eval by health care provider familiar w/HHT, incl interval history for epistaxis, other bleeding, shortness of breath, ↓ exercise tolerance, headache, & other neurologic symptoms	Annually
Anemia	Hematocrit/hemoglobin Ferritin
Pulmonary AVM	In adults: TCE w/agitated saline contrast if previous TCE did not reveal evidence of a significant right-to-left shunt In children: TCE w/agitated saline contrast OR chest radiograph w/pulse oximetry	In those w/o previous pulmonary AVM: every 5 yrs In those w/pulmonary AVM: frequency per vascular specialist
Cerebral AVM	Brain MRI (w/& w/o contrast using sequences that detect blood products)	Rpt after puberty if initial brain MRI was done in childhood, as development or evolution of cerebral AVMs in 1st 2 decades of life has been reported [Hetts et al 2014].
SMAD4-HHT	See Juvenile Polyposis Syndrome, Surveillance 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].

System/Concern

Evaluation

Frequency

General

Eval by health care provider familiar w/HHT, incl interval history for epistaxis, other bleeding, shortness of breath, ↓ exercise tolerance, headache, & other neurologic symptoms

Annually

Anemia

Hematocrit/hemoglobin
Ferritin

Pulmonary AVM

In adults: TCE w/agitated saline contrast if previous TCE did not reveal evidence of a significant right-to-left shunt
In children: TCE w/agitated saline contrast OR chest radiograph w/pulse oximetry

In those w/o previous pulmonary AVM: every 5 yrs
In those w/pulmonary AVM: frequency per vascular specialist

Cerebral AVM

Brain MRI (w/& w/o contrast using sequences that detect blood products)

Rpt after puberty if initial brain MRI was done in childhood, as development or evolution of cerebral AVMs in 1st 2 decades of life has been reported [Hetts et al 2014].

SMAD4-HHT

See Juvenile Polyposis Syndrome, Surveillance 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].

From: Hereditary Hemorrhagic Telangiectasia

GeneReviews^® [Internet].

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

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