NDLI: Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls

Content Provider	Springer Nature : BioMed Central
Author	Hosman, Anna E Devlin, Hannah L Silva, B Maneesha Shovlin, Claire L
Abstract	Background Hereditary haemorrhagic telangiectasia (HHT) is inherited as an autosomal dominant trait, affects ~1 in 5,000, and causes multi-systemic vascular lesions and life-limiting complications. Life expectancy is surprisingly good, particularly for patients over 60ys. We hypothesised that individuals with HHT may be protected against life-limiting cancers. Methods To compare specific cancer rates in HHT patients and controls, we developed a questionnaire capturing data on multiple relatives per respondent, powered to detect differences in the four most common solid non skin cancers (breast, colorectal, lung and prostate), each associated with significant mortality. Blinded to cancer responses, reports of HHT-specific features allowed assignment of participants and relatives as HHT-subjects, unknowns, or controls. Logistic and quadratic regressions were used to compare rates of specific cancer types between HHT subjects and controls. Results 1,307 participants completed the questionnaire including 1,007 HHT-subjects and 142 controls. The rigorous HHT diagnostic algorithm meant that 158 (12%) completed datasets were not assignable either to HHT or control status. For cancers predominantly recognised as primary cancers, the rates in the controls generally matched age-standardised rates for the general population. HHT subjects recruited through the survey had similar demographics to controls, although the HHT group reported a significantly greater smoking habit. Combining data of participants and uniquely-reported relatives resulted in an HHT-arm of 2,161 (58% female), and control-arm of 2,817 (52% female), with median ages of 66ys [IQR 53–77] and 77ys [IQR 65–82] respectively. In both crude and age-adjusted regression, lung cancers were significantly less frequent in the HHT arm than controls (age-adjusted odds ratio 0.48 [0.30, 0.70], p = 0.0012). Breast cancer prevalence was higher in HHT than controls (age-adjusted OR 1.52 [1.07, 2.14], p = 0.018). Overall, prostate and colorectal cancer rates were equivalent, but the pattern of colorectal cancer was modified, with a higher prevalence in younger HHT patients than controls. Conclusions These preliminary survey data suggest clinically significant differences in the rates of lung, breast and colorectal cancer in HHT patients compared to controls. For rare diseases in which longitudinal studies take decades to recruit equivalent datasets, this type of methodology provides a good first-step method for data collection.
Related Links	https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-8-195.pdf
Ending Page	15
Page Count	15
Starting Page	1
File Format	HTM / HTML
ISSN	17501172
DOI	10.1186/1750-1172-8-195
Journal	Orphanet Journal of Rare Diseases
Issue Number	1
Volume Number	8
Language	English
Publisher	BioMed Central
Publisher Date	2013-12-20
Access Restriction	Open
Subject Keyword	Medicine Public Health Pharmacology Toxicology Human Genetics Breast Colorectal Liver Lung Prostate Endoglin ALK1 SMAD4 Smoking Metastases Medicine/Public Health Pharmacology/Toxicology
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Genetics (clinical)
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.9/2023

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