Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia

Abstract

There are only a few published studies that demonstrate associations between life expectancy, severe comorbidities, and their complications in patients with hereditary hemorrhagic telangiectasia (HHT). Relatives of 73 deceased patients with suspected HHT completed a questionnaire about causes of death, and symptoms and comorbidities that the patients had developed. We compared the data for 55 cases where HHT had been clinically confirmed with the general population. Patients suffering from HHT lost, on average, 19 years (SD 11 years) of potential life compared to the general population. Among the deceased HHT patients, 35% (95% CI: 23-48%) died from sepsis, 26% (95% CI: 16-38%) from cardiac failure, 20% (95% CI: 9-28%) from a severe bleeding episode, and 13% (95% CI: 6-24%) from terminal cancer. Congestive heart failure (69%, 95% CI: 56-80%) and pulmonary hypertension (23%, 95% CI: 14-36%) were the main non-fatal comorbidities in patients with HHT. Patients with HHT appear to have a lower life expectancy than the general population. Sepsis and cardiac failure were the main causes of death. Optimized and targeted screening programs for the most frequent comorbidities followed by improved management of infectious complications may increase life expectancy.

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

“…In the past, HHT patients presented with major complications especially from undiagnosed PAVMs such as hemothorax and paradoxical emboli leading to ischemic stroke or cerebral abscess [6,8]. These complications significantly reduced the quality of life and the life expectancy [9][10][11]. Several studies have shown a decreased life expectancy in HHT patients that did not receive a systematic HHT screening and treatment [10,12].…”

Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an <i>ACVRL1</i> Mutation

“…More cases of HHT and pulmonary hypertension were reported among patients with ACVRL1 mutations than among patients with ENG mutations (5). Previous studies, that did not include genetic information about ACVRL1 mutations, found that HHT and pulmonary hypertension patients had a higher mortality, and died due to cardiac diseases associated with pulmonary hypertension, sepsis, and major bleeding related to HHT (6,14,15). The prognostic information in Table 3, which describes the reported cases of HHT and pulmonary hypertension in patients with ACVRL1 mutations, indicates that patients died due to right heart failure, sepsis, bleeding, and rupture of arteriovenous malformation after 1.8 to 21 years' follow-up (16-22).…”

“…Patients with HHT are reported to have lower life expectancy than the general population (6)(7)(8). There are no differences regarding the survival rate between HHT patients with ACVRL1 mutations and those with ENG mutations (8).…”

“…The pathology of HHT is mainly characterized by dilated vessels; however, the presence of HHT and pulmonary hypertension in patients with ACVRL1 mutations is associated with the occlusion of small pulmonary vessels (10). Pulmonary hypertension was detected as a complication in 8-23% of patients with HHT, and was associated with a poor prognosis (6,13,14). HHT patients with pulmonary hypertension are also reported to have a lower survival rate in comparison to those without (15, 16).…”

High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment

“…Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder, leading to vascular abnormalities with potentially serious clinical implications [1,2]. It is an autosomal dominant disease with an estimated prevalence of 1:6.500 in Denmark [3].…”