Comorbidity among HHT patients and their controls in a 20 years follow-up period

Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green

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BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tissues and organs.

OBJECTIVE: To study the need for hospital admittance in a group of HHT patients and matched controls during a 20 years follow-up period commencing in 1995.

METHODS: All HHT patients in the County of Funen, Denmark, were included. For each patient, three age and sex matched controls were identified at the time of enrolment. Data on all hospitalisations were extracted from the national health registers and compared with clinical records. The hospitalisations were grouped as HHT relevant or not HHT relevant based on the discharge diagnosis (International Classification of Diseases, ICD10) and with particular focus on infections, bleedings and thromboembolic events. Patients with HHT were compared with controls concerning the first time incidence of each discharge diagnosis.

RESULTS: We included 73 HHT patients and 219 controls of which one control was lost to follow-up. HHT-patients had significantly more hospitalisations per person caused by infections in joints and bones, but not caused by infections in general. Bleeding episodes were, as expected, more frequent among the HHT-patients. The study revealed a similar incidence of abscesses and thromboembolisms, including in the central nervous system, among the HHT patients and controls.

CONCLUSIONS: Based on this study Danish HHT patients had an increased comorbidity of infections in joints and bones and of bleeding episodes. However, the incidence of thromboembolisms, cerebral abscesses and other conditions commonly considered related to HHT was comparable between the patients and the controls. The patients included in this study were closely monitored at a highly specialised HHT Centre where they received relevant diagnostic evaluation, treatment and counselling. Since this is assumed to benefit the overall health of the patients, it may explain why these patients were less prone to comorbidity than other studies have suggested.

Original languageEnglish
Article number223
JournalOrphanet Journal of Rare Diseases
Number of pages9
Publication statusPublished - 14. Dec 2018


  • Comorbidity
  • HHT
  • Hereditary haemorrhagic telangiectasia
  • Hospitalisation
  • Infections


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