The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study

Abstract

The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax, 69 (2 A note on versions:The version presented here may differ from the published version or from the version of record. If you wish to cite this item you are advised to consult the publisher's version. Please see the repository url above for details on accessing the published version and note that access may require a subscription. and RH contributed to the study design and interpretation of findings. All authors were involved in revising and approving the manuscript before submission. Word Count 2,963 KeywordsHereditary Haemorrhagic Telangiectasia, Epidemiology, Prevalence, Sex, Socioeconomic status What is the key question?What is the current prevalence of Hereditary Haemorrhagic Telangiectasia (HHT) in the UK and how does it vary with respect to age, sex, socioeconomic status and geographical location? What is the bottom line?Using a representative UK general practice database we estimate the prevalence of HHT to be at least 1 per 9,500 which is more common than previously documented in the UK, though still likely to represent an underestimate of the true prevalence. Why read on?We identify particular under-recognition in the diagnosis of HHT in males and those from less affluent socioeconomic groups with a significant variation in diagnostic rates between different geographical regions of the UK.3 ABSTRACT Background

Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia

“…Current studies suggest a prevalence of ≈1:10 000 in the United States and United Kingdom, 1:5000-1:8000 in Japan and ≈1:1300 in The Netherland-Antilles. [11][12][13][14] Clinical symptoms in HHT are variable even among first degree relatives with HHT and often evolve over time. Many of the clinical manifestations, especially the severity of epistaxis and gastrointestinal bleeding, become more prominent in the later decades of life.…”

“…15 Interestingly, despite the fact that HHT is an autosomal dominantly inherited disorder, its clinical prevalence is higher in women with studies demonstrating a male:female ratio of 1:1.33 to 1:1.54. 14,16,17 Proposed explanations for this disparity include (1) increased use of healthcare resources by women resulting in higher detection rates, (2) epigenetic and environmental factors, and (3) hormonal factors.…”

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

“…Limited prevalence data suggest that PAVMs may affect many as 1 in 2600 individuals (95% CIs 1 in 1315 to 1 in 5555) 5. The majority of PAVMs are due to hereditary haemorrhagic telangiectasia (HHT),6–9 but there is evidence for underappreciation of both PAVMs10 and HHT 11. PAVMs may be present from birth and have usually completed major development by adult life, although they can enlarge later in life, for example, during pregnancy or other alterations in pulmonary haemodynamics 12.…”

Hereditary haemorrhagic telangiectasia

“…It has a prevalence of 1 in 5,000 -9,000 but with some geographical variation (2,3) . It is characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs), which may be found in the lung, liver, brain or gastrointestinal tract.…”