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. 2020 Nov 6;9(11):3581.
doi: 10.3390/jcm9113581.

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

Els M de Gussem  1 , Steven Kroon  2 , Anna E Hosman  2 , Johannes C Kelder  3 , Martijn C Post  4   5 , Repke J Snijder  2 , Johannes J Mager  2
Affiliations

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

Els M de Gussem et al. J Clin Med. .

Abstract

Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs-pulmonary AVMs (PAVMs)-can result in morbidity with a decreased life expectancy. We have investigated whether HHT patients, systematically screened for HHT-related organ involvement and treated if needed, have a similar survival as persons without HHT. We included all individuals screened for HHT between 2004 and 2016 with a genetically or clinically confirmed diagnosis (HHT group) or excluded diagnosis (non-HHT control group). The social security number was used to confirm status as dead or alive in December 2019. We included 717 HHT patients and 471 controls. There was no difference in survival between the HHT and the non-HHT control group. The HHT group had a life expectancy of 75.9 years (95% confidence interval (CI) 73.3-78.6), comparable to the control group (79.3 years, 95% CI 74.8-84.0, Mantel-Cox test: p = 0.29). In conclusion, the life expectancy of HHT patients systematically screened for HHT-related organ involvement and treated if needed in an HHT center of excellence was similar compared to their controls, justifying systematic screening and treatment in HHT patients.

Keywords: hereditary hemorrhagic; life expectancy; survival; telangiectasia; vascular malformations.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flowchart of included patients. HHT, Hereditary Hemorrhagic Telangiectasia; SSN, social security number.
Figure 2
Figure 2
Left-truncated Kaplan–Meier curve of HHT and controls. The dotted lines represent the 95% confidence intervals. HHT, Hereditary Hemorrhagic Telangiectasia.
Figure 3
Figure 3
Left-truncated Kaplan–Meier curves of HHT subtypes and controls (A) HHT type 1 and HHT type 2. (B) HHT type 1 and controls. (C) HHT type 2 and controls. (D) Patients with genetically confirmed HHT (HHT type 1, type 2 and juvenile polyposis/HHT overlap syndrome) and their relatives without HHT. The dotted lines represent the 95% confidence intervals. HHT, Hereditary Hemorrhagic Telangiectasia.
Figure 4
Figure 4
Left-truncated Kaplan–Meier curves of HHT patients. (A) Survival of females and males with HHT. (B) Survival of HHT patients with and without visceral AVM. (C) Survival of HHT patients with and without PAVM. (D) Survival of HHT patients with and without CVM. (E) Survival of HHT patients with and without HVM. (F) Survival of HHT patients with and without gastrointestinal telangiectases. (G) Survival of HHT patients with and without anemia. The dotted lines represent the 95% confidence intervals. AVM, arteriovenous malformation; CVM, cerebrovascular malformation; HHT, Hereditary Hemorrhagic Telangiectasia; HVM, hepatic vascular malformation.
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