Short summary

The most common clinical manifestation among patients with Hereditary Haemorrhagic Telangiectasia (HHT) is spontaneous and recurrent epistaxis, this may cause severe anemia, and affect daily life.

1. to evaluate how  HHT affect quality of life in a Danish Population

2. to validate the ESS Epistaxis severity score in a Danish Population.

Rationale

The most common clinical manifestation of HHT is spontaneous and recurrent epistaxis, usually beginning in childhood, ultimately affecting around 95% of all HHT patients. Around 25% of individuals with HHT suffer from gastrointestinal bleeding, caused by gastrointestinal AVM (GI-AVM.) Pulmonary arteriovenous malformations (PAVMs) are present in 30% of the cases. The patients may also develope cerebral arteriovenous malformations (CAVMs), which are present in at least 10% of patients. Hepatic arteriovenous malformations (HAVMs) are common, but rarely symptomatic. HHT has a high impact on quality of life. This issue still needs to be further studied in Danish HHT patients in order to target the research and treatment towards the most needed areas. 
The Epistaxis Severity Score (ESS) has been developed in English and has not beforehand been translated to Danish. In the Danish HHT population, we have previously evaluated the severity of bleeding by counting the bleeding time during a two week period. Quality of life using SF 36 has been evaluated among HHT patients in Norway, Germany, Italy and France, but not previously in Denmark.In the present study, we want to correlate ESS with VAS score, SF-36 and bleeding time. And occurrence of anemiaAIM:  1. to evaluate how  HHT affect quality of life in a Danish Population2. to validate the ESS Epistaxis severity score in a Danish Population.

Description of the cohort

HHT patients age 18-80, men and women will be invited

Data and biological material

Questionnaire

Collaborating researchers and departments

Department of Clinical Genetics 

• MD, Pernille Mathiesen Tørring

Department of Radiology 

• MD, PhD, Stevo Duvnjak

Department of Medical Gastroenterology 

• MD, PhD, Annette Dam Fialla
• MD, PhD, Professor jens Kjeldsen

Publications associated with the project

• Comorbidity among HHT patients and their controls in a 20?years follow-up period.
  Aagaard KS, Kjeldsen AD, Tørring PM, Green A.
  Orphanet J Rare Dis. 2018 Dec 14;13(1):223. doi: 10.1186/s13023-018-0962-8.

• Pulmonary arteriovenous malformations: a radiological and clinical investigation of 136 patients with long-term follow-up.Andersen PE, Tørring PM, Duvnjak S, Gerke O, Nissen H, Kjeldsen AD.
  Clin Radiol. 2018 Nov;73(11):951-957. doi: 10.1016/j.crad.2018.07.096. Epub 2018 Aug 4

• Prevalence of hereditary hemorrhagic telangiectasia in patients operated for cerebral abscess: a retrospective cohort analysis.Larsen L, Marker CR, Kjeldsen AD, Poulsen FR.
  Eur J Clin Microbiol Infect Dis. 2017 Oct;36(10):1975-1980. doi: 10.1007/s10096-017-3023-7. Epub 2017 Jun 3.

• 20-year follow-up study of Danish HHT patients-survival and causes of death.
  Kjeldsen A, Aagaard KS, Tørring PM, Möller S, Green A.Orphanet J Rare Dis. 2016 Nov 22;11(1):157.