Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century

Abstract

Hereditary haemorrhagic telangiectasia (HHT) affects one in 5−8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inherited as an autosomal dominant trait and there is no age cut off when apparently unaffected offspring of an individual with HHT can be told they are unaffected. This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population

“…The current prevalence is 1:8,000 (Begbie et al, 2003). Phenotypic penetrance is age-dependent and nearly complete by age 40.…”

Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia

“…In Europe, the frequency affecting both sexes has been estimated as being between 1 in 5,000 and 1 in 8,000 sufferers. 1 Increased frequency occurs in certain populations, including those of Ain (France), Vermont (USA), and Afro-Caribbean populations in the Netherlands Antilles region. 2 Sufferers may be asymptomatic, but 90% of people have signs or symptoms by the age of 40.…”

“…While many women with HHT have uneventful pregnancies and straightforward deliveries, the hormonal and cardiovascular changes of pregnancy in these women have been associated with disease progression and presentation of severe complications during this period. 1,3 In one case series of 111 HHT affected women, 13 suffered life-threatening complications of HHT during pregnancy. 3 A number of case reports exist regarding such episodes (Tables 1, 2).…”

“…2 Both encode receptor proteins in the transforming growth factor b (TGF-b) superfamily (which is involved in cell proliferation, differentiation, adhesion, and migration) and are highly expressed on vascular endothelial cells. 1 At least one other gene is thought to be involved. 4 Although the specific mutation influences the extremely variable phenotypic presentation of the disease, the diversity of clinical presentations within a family suggests that other epigenetic factors or modifying genes have a role.…”

“…Mucocutaneous and gastrointestinal telangiectasia also develop with increasing age and may lead to chronic anemia. 1 Potentially life-threatening AVMs are most commonly recognized within the pulmonary, hepatic, and cerebral circulations. However, they may develop in any system and have been described in the spinal, coronary, renal, splenic, ocular, uterine, and vaginal circulatory systems.…”