Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis

Abstract

OBJECTIVE Patients with hereditary hemorrhagic telangiectasia (HHT) are known to suffer from high rates of cerebral arteriovenous malformations (AVMs). The authors performed a systematic review and meta-analysis of the literature examining prevalence rates, characteristics, and clinical presentation of cerebral AVMs in the HHT population. METHODS To identify studies on AVM prevalence and characteristics in the HHT population, 4 databases (MEDLINE, EMBASE, Scopus and Web of Science) were searched by a reference librarian with over 30 years experience in systematic reviews and meta-analysis. The search period was January 1, 1990-March 2016. The following search terms were used: hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu syndrome, AVM, brain AVM, arteriovenous malformation, arteriovenous fistula, prevalence, and epidemiology. The authors identified studies that examined the prevalence rates, characteristics, and clinical presentation of cerebral AVMs in patients with HHT. They assessed overall AVM prevalence rates as well as prevalence rates by age, sex, HHT type, and country/region. They also systematically reviewed the characteristics of AVMs, including rupture status, location, clinical presentation, angioarchitecture, and Spetzler-Martin grade. Data were analyzed using a random-effects meta-analysis model. RESULTS Thirty-nine studies were included in this meta-analysis. Thirty studies examined brain AVM prevalence rates in various HHT patient populations, and 18 studies examined AVM clinical and angiographic characteristics (9 studies examined both prevalence rates and AVM characteristics). The prevalence of brain AVMs in HHT patients was 10.4% (95% CI 7.9%-13.0%) with no significant difference between males (8.5%, 95% CI 4.9%-12.0%) and females (11.0%, 95% CI 5.9%-16.1%). Patients with HHT Type 1 (HHT1) had a significantly higher brain AVM prevalence (13.4%, 95% CI 9.5%-17.4%) compared with those with HHT Type 2 (HHT2) (2.4%, 95% CI 1.0%-3.8%) (p < 0.0001). In 55.2% (95% CI 38.3%-72.1%) of cases, the AVMs were symptomatic. Spetzler-Martin grade was 2 or less in 86.9% (95% CI 67.5%-95.2%) of patients. CONCLUSIONS The prevalence of brain AVMs in the HHT population is about 10%. HHT1 patients are significantly more likely to have brain AVMs than HHT2 patients. Most AVMs in the HHT population are symptomatic. The Spetzler-Martin grade for these lesions is 2 or less in nearly 90% of patients.

Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia

“…A total of 20% of patients had cerebral and 48% had pulmonary vascular malformations. In other studies, 5,6 fewer patients were diagnosed with cerebral and pulmonary vascular malformations. As all deceased patients were members of the German advocacy group, we may have inadvertently collected data from patients with potentially severe disease progression.…”

“…[1][2][3] Organ manifestations of arteriovenous malformations range from small telangiectatic lesions in the oral or nasal mucosa, leading to bleeding and larger lesions affecting the lungs, liver and brain. 3,4 Up to 10% of patients with HHT have cerebral vascular malformations 5 and 15-45% suffer from pulmonary vascular malformations. 6 Between 30% and 80% are diagnosed with hepatic vascular malformations.…”

Angioarchitecture of Hereditary Arteriovenous Malformations

“…10 The prevalence of cerebral AVMs in the HHT population is estimated to be approximately 10 to 20%, with similar incidence in males and females. 11 The incidence of cerebral AVM is higher in patients with HHT type I (13.4%) compared with HHT type 2 (2.4%). In a meta-analysis of published data, 55% of brain AVMs were symptomatic.…”

Maternal Genetic Disorders in Pregnancy

“…Although cerebral AVMs (CAVMs) 13 and hepatic AVMs 14 are more prevalent in women with HHT, the risk of associated pregnancy complications seems to be low with only a few case reports in the literature. 8,12 Women who have had a previous CAMV rupture may be at increased risk for rebleeding during the second and third trimester of pregnancy.…”