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20-year follow-up study of Danish HHT patients — survival and causes of death

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ABSTRACT

Background: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway which is responsible for angiogenesis. Modulations of angiogenesis may influence cancer rates. The objective of the study was to evaluate 20-year survival according to HHT subtype, as well as to evaluate differences in causes of death comparing HHT patients and controls. We also wanted to investigate whether cancer morbidity among HHT patients differs from that among controls.

Results: We included all HHT patients in the County of Fyn, Denmark, prevalent as of January 1st 1995 in total 73 HHT patients. In addition three age- and sex- matched controls per HHT patient were evaluated, in total 218 controls (one was lost due to registration failure). The controls were defined at start of follow-up in 1995. Information on lifestyle factors was not available. A total of 32 (44%) HHT patients and 97 (44%) controls passed away during follow-up. The survival curves were evenly distributed showing similar survival rates in the two groups. Cancer diagnoses had been registered in the follow-up period in 4 (5%) HHT patients and in 38 (17%) controls.

Conclusion: The mortality was not increased among Danish HHT patients compared to controls. This study is based on a clinical unselected series of HHT patients with the whole spectrum of severity, independent of need for medical care. Our data also suggest that HHT patients to a lesser degree than the background population are affected by cancer.

Electronic supplementary material: The online version of this article (doi:10.1186/s13023-016-0533-9) contains supplementary material, which is available to authorized users.

No MeSH data available.


Typical telangiectatic lesion in an HHT patient
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Fig1: Typical telangiectatic lesion in an HHT patient

Mentions: The most common clinical manifestation of HHT is spontaneous and recurrent epistaxis, usually with debut in childhood, ultimately affecting around 95% of all HHT patients. The epistaxis severity differs considerably between individual patients. With age HHT patients develop characteristic red spots (Fig. 1 (telangiectatic lesions)). Gastrointestinal AVM (GI-AVM) may cause gastrointestinal bleeding in 25% of HHT patients [2, 9] who often need blood transfusions. Pulmonary arteriovenous malformations (PAVMs) are present in around 12–50% depending on the genetic subtype [10–12]. PAVMs may cause serious neurological symptoms like cerebral abscess (CA) [13–15] or stroke, due to paradoxical embolism [10, 16]. Patients with PAVMs are therefore recommended treated with embolization, whenever possible [17]. Other neurological symptoms may be caused by cerebral arteriovenous malformations (CAVMs), which are present in at least 10% of patients [18]. Hepatic arteriovenous malformations (HAVMs) are quite common, but rarely symptomatic [2, 19]. Clinical reports show an apparent increased occurrence of bacterial infection [13–15], and an apparent increased occurrence of thromboembolic events, and certainly an increased occurrence of non-traumatic haemorrhage [2, 5].Fig. 1


20-year follow-up study of Danish HHT patients — survival and causes of death
Typical telangiectatic lesion in an HHT patient
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5120428&req=5

Fig1: Typical telangiectatic lesion in an HHT patient
Mentions: The most common clinical manifestation of HHT is spontaneous and recurrent epistaxis, usually with debut in childhood, ultimately affecting around 95% of all HHT patients. The epistaxis severity differs considerably between individual patients. With age HHT patients develop characteristic red spots (Fig. 1 (telangiectatic lesions)). Gastrointestinal AVM (GI-AVM) may cause gastrointestinal bleeding in 25% of HHT patients [2, 9] who often need blood transfusions. Pulmonary arteriovenous malformations (PAVMs) are present in around 12–50% depending on the genetic subtype [10–12]. PAVMs may cause serious neurological symptoms like cerebral abscess (CA) [13–15] or stroke, due to paradoxical embolism [10, 16]. Patients with PAVMs are therefore recommended treated with embolization, whenever possible [17]. Other neurological symptoms may be caused by cerebral arteriovenous malformations (CAVMs), which are present in at least 10% of patients [18]. Hepatic arteriovenous malformations (HAVMs) are quite common, but rarely symptomatic [2, 19]. Clinical reports show an apparent increased occurrence of bacterial infection [13–15], and an apparent increased occurrence of thromboembolic events, and certainly an increased occurrence of non-traumatic haemorrhage [2, 5].Fig. 1

View Article: PubMed Central - PubMed

ABSTRACT

Background: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway which is responsible for angiogenesis. Modulations of angiogenesis may influence cancer rates. The objective of the study was to evaluate 20-year survival according to HHT subtype, as well as to evaluate differences in causes of death comparing HHT patients and controls. We also wanted to investigate whether cancer morbidity among HHT patients differs from that among controls.

Results: We included all HHT patients in the County of Fyn, Denmark, prevalent as of January 1st 1995 in total 73 HHT patients. In addition three age- and sex- matched controls per HHT patient were evaluated, in total 218 controls (one was lost due to registration failure). The controls were defined at start of follow-up in 1995. Information on lifestyle factors was not available. A total of 32 (44%) HHT patients and 97 (44%) controls passed away during follow-up. The survival curves were evenly distributed showing similar survival rates in the two groups. Cancer diagnoses had been registered in the follow-up period in 4 (5%) HHT patients and in 38 (17%) controls.

Conclusion: The mortality was not increased among Danish HHT patients compared to controls. This study is based on a clinical unselected series of HHT patients with the whole spectrum of severity, independent of need for medical care. Our data also suggest that HHT patients to a lesser degree than the background population are affected by cancer.

Electronic supplementary material: The online version of this article (doi:10.1186/s13023-016-0533-9) contains supplementary material, which is available to authorized users.

No MeSH data available.