JOURNAL ARTICLE

Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician

P Giordano, A Nigro, G M Lenato, G Guanti, P Suppressa, P Lastella, D DE Mattia, C Sabbà
Journal of Thrombosis and Haemostasis: JTH 2006, 4 (6): 1237-45
16706966

BACKGROUND: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is characterized by telangiectases and arteriovenous malformations (AVMs) affecting skin, mucosae and internal organs. AVMs often remain clinically silent until provoking sudden serious complications, responsible for important morbidity and mortality which can occur both in adulthood and in children. The incidence of AVMs in HHT pediatric populations is unknown.

OBJECTIVE: To describe the screening protocol performed in the first genotypically confirmed HHT pediatric population and to estimate the incidence of occult brain, lung and liver AVMs and the different disease phenotypes.

MATERIALS AND METHODS: Molecular analysis was performed on 35 children, both symptomatic and asymptomatic, who were family members of probands with a previously identified mutation. Clinical-instrumental examination was performed on the mutation positive cases. Nasal telangiectases were investigated by anterior rhinoscopy. Contrast echocardiography and high resolution thoracic multislice computed tomography (CT) were performed to detect pulmonary arteriovenous malformations (PAVMs), and echo-color Doppler, and abdominal CT to detect hepatic arteriovenous malformations (HAVMs). Brain magnetic resonance imaging was utilized to detect cerebral angiopathic involvement.

RESULTS: Molecular analysis demonstrated the mutation-carrier status in 22/35 children. Nineteen children, 12 of whom had epistaxis, positive to molecular testing underwent clinical evaluation. Nasal teleangiectases were found in 68%, mucocutaneous telangiectases (fingers, lips and oral cavity) in 79%, PAVMs in 53%, HAVMs in 47% and cerebral anteriovenous malformations and/or cerebral ischemic changes secondary to PAVMs in 12%.

CONCLUSIONS: We evidenced a high incidence of HHT children with occult visceral lesions suggesting that a diagnostic screening may be indicated to appropriately treat brain and lung malformations.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
16706966
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.