7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants.

Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links between HHT nosebleeds and certain food groups. In this letter, we report 7-day weighed food diary assessments of an unselected group of 25 UK patients with HHT whose nosebleeds ranged from mild to severe (median epistaxis severity score 4.66, range 0.89- 9.11). The diaries provide evidence that food items most commonly reported to provoke nosebleeds were ingested by fewer HHT patients, compared to food items less commonly reported to provoke nosebleeds (chi-squared p <0.001).

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

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.

Lifestyle and dietary influences on nosebleed severity in hereditary hemorrhagic telangiectasia.

OBJECTIVES/HYPOTHESIS: To identify factors influencing the severity of epistaxis in hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: Participants with and without HHT were recruited from a specialist service and online following advertisement by the HHT Foundation International. Both groups were asked to complete a nonbiased questionnaire. METHODS: The reported effects of specific treatments or lifestyle factors on epistaxis were assigned positive values if beneficial, negative values if detrimental, or zero if "no difference" and were summed to enable statistical analysis. RESULTS: Epistaxis affected 649 of 666 (97%) participants with HHT and was significantly more frequent than in control participants. Specialist invasive treatments were reported as beneficial, laser therapy more frequently than cauterization. Medical treatments commonly used for HHT epistaxis (female hormones, antiestrogens, tranexamic acid, aminocaproic acid, nasal creams, and bevacizumab) also had significantly positive (beneficial) scores. Lifestyle and dietary factors were generally detrimental, but room humidification, nasal lubrication, and saline treatments were all reported as beneficial (95% confidence intervals greater than zero). Multiple food items were volunteered as being detrimental to epistaxis. The most frequently reported items were alcohol (n = 45; 6.8% of participants) and spices (n = 26, 3.9% of participants). Remaining foods reported to exacerbate epistaxis were also found to be high in salicylates (including red wine, spices, chocolate, coffee, and certain fruits), natural antiplatelet activity (garlic, ginger, ginseng, ginkgo biloba, and vitamin E15), or omega-3 acids (oily fish, salmon). CONCLUSIONS: This study supports existing treatments and suggests lifestyle and dietary maneuvers that may also improve nosebleeds in HHT. LEVEL OF EVIDENCE: 2c.