Severity score for hereditary hemorrhagic telangiectasia.

Giuseppe A Latino,Helen Kim,Jeffrey Nelson,William Young,Ludmila Pawlikowska,Marie E Faughnan

doi:10.1186/s13023-014-0188-3

Abstract

BackgroundA disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Here, we propose the first known HHT severity score, the HHT-score.MethodsDemographics and disease characteristics were collected for the first 525 HHT patients recruited to the HHT Project of the Brain Vascular Malformation Consortium (BVMC). HHT-score was calculated based on presence of: organ arteriovenous malformations (maximum 3 points); chronic bleeding (maximum 2 points); and severe organ involvement (maximum 2 points). Points were summed and patients categorized as having mild (0–2), moderate (3–4) or severe (5–7) disease. The occurrence of “any adverse outcome” was evaluated for association with HHT-score categories.ResultsThe frequency of “any adverse outcome” was significantly different across the three groups (49.6% in mild, 65.8% in moderate and 89.5% in severe, p < 0.001). Adjusting for age and gender, the risk of “any adverse outcome” was higher in the moderate (OR = 1.84, 95% CI: 1.15-2.95, p = 0.011) and severe groups (OR = 9.16, 95% CI: 1.99-42.09, p = 0.004) compared to the mild.ConclusionsWe have taken the first steps toward creating a global measure of disease severity in HHT. While the initial results are promising, further validation of the HHT-score is still required.

Highlights

A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition of vascular dysplasia characterized by mucocutaneous telangiectases and organ arteriovenous malformations (AVMs) mainly affecting the lungs, liver and brain [1,2]
The majority of patients had a history of recurrent spontaneous epistaxis (381 or 97.0%); GI bleeding was present in 66 (16.8%), PAVMs in 200 (50.9%), BAVMs in 91 (23.2%), and diagnosed liver VMs in 83 (21.1%) patients

Summary

Introduction

A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition of vascular dysplasia characterized by mucocutaneous telangiectases and organ arteriovenous malformations (AVMs) mainly affecting the lungs, liver and brain [1,2]. The two most commonly mutated genes are endoglin (ENG or HHT1) and activin A receptor type II-like 1 (ALK-1 or HHT2) [1], Telangiectases and AVMs are prone to bleeding, leading to chronic epistaxis and/or gastrointestinal (GI) bleeding in most HHT patients, and a risk of life-threatening pulmonary or cerebral hemorrhage in approximately 50% [1,9,10]. There is no global measure of disease severity in HHT, which affects multiple organ systems. An epistaxis severity score (ESS) is available for this symptom of HHT [11], there is currently no overall HHT severity

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