Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HH...

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Main Authors: Urban Geisthoff, Ha-Long Nguyen, Rolf Lefering, Steffen Maune, Kruthika Thangavelu, Freya Droege
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Journal of Clinical Medicine
Subjects:
Online Access:https://www.mdpi.com/2077-0383/9/5/1507
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author Urban Geisthoff
Ha-Long Nguyen
Rolf Lefering
Steffen Maune
Kruthika Thangavelu
Freya Droege
author_facet Urban Geisthoff
Ha-Long Nguyen
Rolf Lefering
Steffen Maune
Kruthika Thangavelu
Freya Droege
author_sort Urban Geisthoff
collection DOAJ
description Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. They were then surveyed for information concerning their dominant hand, exposure to sunlight, and types of regular manual work. Patients developed more telangiectases on their dominant hand and lower lip (Wilcoxon rank sum test: <i>p</i> < 0.001). Mechanical stress induced by manual work led to an increased number of telangiectases on patients’ hands (Mann–Whitney U test: <i>p</i> < 0.001). There was also a positive correlation between sun exposure and the number of telangiectases on the lips (Mann–Whitney U test: 0.027). This study shows that mechanical and UV-induced trauma strongly influence the formation of telangiectases in HHT patients. This result has potential implications in preventive measures and on therapeutic approaches for HHT.
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spelling doaj.art-4a91bf1e337c47389f42aa7370ca7be72023-11-20T00:45:22ZengMDPI AGJournal of Clinical Medicine2077-03832020-05-0195150710.3390/jcm9051507Trauma Can Induce Telangiectases in Hereditary Hemorrhagic TelangiectasiaUrban Geisthoff0Ha-Long Nguyen1Rolf Lefering2Steffen Maune3Kruthika Thangavelu4Freya Droege5Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35043 Marburg, GermanyLaboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, 1200 Brussels, BelgiumInstitute for Research in Surgical Medicine (IFOM), University of Witten/Herdecke, Campus Merheim, 51109 Cologne, GermanyDepartment of Otorhinolaryngology, Hospitals of the City of Cologne, University of Witten/Herdecke, 51067 Cologne, GermanyDepartment of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35043 Marburg, GermanyDepartment of Otorhinolaryngology, Head and Neck Surgery, Essen University Hospital, University Duisburg-Essen, Hufelandstrasse 55, 45122 Essen, GermanyHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. They were then surveyed for information concerning their dominant hand, exposure to sunlight, and types of regular manual work. Patients developed more telangiectases on their dominant hand and lower lip (Wilcoxon rank sum test: <i>p</i> < 0.001). Mechanical stress induced by manual work led to an increased number of telangiectases on patients’ hands (Mann–Whitney U test: <i>p</i> < 0.001). There was also a positive correlation between sun exposure and the number of telangiectases on the lips (Mann–Whitney U test: 0.027). This study shows that mechanical and UV-induced trauma strongly influence the formation of telangiectases in HHT patients. This result has potential implications in preventive measures and on therapeutic approaches for HHT.https://www.mdpi.com/2077-0383/9/5/1507hereditary hemorrhagic telangiectasia (HHT)telangiectasesmechanical damagesun-induced traumavascular malformationsEndoglin
spellingShingle Urban Geisthoff
Ha-Long Nguyen
Rolf Lefering
Steffen Maune
Kruthika Thangavelu
Freya Droege
Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
Journal of Clinical Medicine
hereditary hemorrhagic telangiectasia (HHT)
telangiectases
mechanical damage
sun-induced trauma
vascular malformations
Endoglin
title Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
title_full Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
title_fullStr Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
title_full_unstemmed Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
title_short Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia
title_sort trauma can induce telangiectases in hereditary hemorrhagic telangiectasia
topic hereditary hemorrhagic telangiectasia (HHT)
telangiectases
mechanical damage
sun-induced trauma
vascular malformations
Endoglin
url https://www.mdpi.com/2077-0383/9/5/1507
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