Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Nov 9;19(1):421.
doi: 10.1186/s13023-024-03402-8.

Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia

Lauren A Beslow  1 , Helen Kim  2 , Steven W Hetts  3 , Felix Ratjen  4 , Marianne S Clancy  5 , James R Gossage  6 , Marie E Faughnan  7
Affiliations

Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia

Lauren A Beslow et al. Orphanet J Rare Dis. .

Abstract

Background: Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for organ vascular malformations including arteriovenous malformations (AVMs) in the brain and lungs. North American HHT Centers of Excellence (CoEs) routinely screen for brain and lung AVMs, with the primary goal of detecting AVMs which can be treated before complications arise. Current international HHT guidelines provide recommendations for initial screening for brain and lung AVMs among children and adults with the disease, but rescreening recommendations are not comprehensively addressed and have not been reported. We determined current rescreening practices for brain and lung AVMs for children and adults with HHT among North American HHT CoEs.

Methods: We surveyed North American HHT CoEs regarding rescreening practices for new brain and lung AVMs in children and adults with initial negative screening.

Results: All thirty CoEs responded; 28 regarding pediatric (93.3%) and 30 (100%) regarding adult HHT care. The median duration of practice experience in HHT was 11.5 (range 3-30) years for providers of pediatric HHT care and 11.5 (range 3-35) years for providers of adult HHT care. The median number of patients followed at each CoE was 60 for children (range 8-500) and 375 for adults (range 30-1500). 25/28 CoEs (89.3%) reported rescreening children for brain AVMs, most commonly with enhanced MRI (21/25, 84%). 25 CoEs rescreen children for lung AVMs, most commonly every 5 years (15/25). Only 4/30 CoEs (13.3%) rescreen adults for brain AVMs. 26/30 CoEs (86.7%) reported rescreening adults for lung AVMs, most commonly every 5 years (18/26, 69.2%).

Conclusions: Most HHT CoEs routinely rescreen children for brain and lung AVMs and adults for lung AVMs when initial screening is negative, but adults are infrequently rescreened for brain AVMs. Long-term data regarding risk for new brain and lung AVMs are required to establish practice guidelines for rescreening.

Keywords: Arteriovenous malformation; Echocardiography; Hereditary hemorrhagic telangiectasia; Magnetic resonance imaging; Reimage; Rescreen.

PubMed Disclaimer

Conflict of interest statement

None of the authors [LAB, HK, SWH, RF, MSC, JRG, MEF] has a competing interest with this study.

Similar articles

See all similar articles

References

    1. Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. 2020;19:140–8. - PubMed
    1. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17:860–71. - PMC - PubMed
    1. de Gussem EM, Kroon S, Hosman AE, Kelder JC, Post MC, Snijder RJ, et al. Hereditary hemorrhagic telangiectasia (HHT) and survival: the importance of systematic screening and treatment in HHT centers of excellence. J Clin Med. 2020;9(11):3581. - PMC - PubMed
    1. Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020;173(12):989–1001. - PubMed
    1. Hetts SW, Shieh JT, Ohliger MA, Conrad MB. Hereditary Hemorrhagic Telangiectasia: the convergence of genotype, phenotype, and imaging in modern diagnosis and management of a multisystem disease. Radiology. 2021;300(1):17–30. - PubMed