Quality of Life in Patients With Hemorrhagic Telangiectasia

Influence of Telangiectasia and Anemia on the Well-being and Quality of Life of Patients With Hereditary Hemorrhagic Telangiectasia (HHT).

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established.

Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.

Study Overview

• Status: Enrolling by invitation
• Conditions: Hereditary Hemorrhagic Telangiectasia
• Intervention / Treatment: Other: Questionnaires

• Study Type: Observational
• Enrollment (Estimated): 250

Contacts and Locations

Study Locations

• Germany
  • NRW
    • Essen, NRW, Germany, 45147
      • Departement of Otorhinolaryngology - Head and Neck Surgery University Hospital Essen

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients suffering from HHT

Description

Inclusion criteria:

• knowledge of german language
• Age above 17 years
• capable of giving consent
• Diagnosis of HHT (Curaçao criteria or genetic testing)

Exclusion criteria:

-Individuals not meeting the inclusion criteria.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quality of Life and Patient Satisfaction measured using the FACE-Questionnaire	Using patient reported outcome measurements: Face-Questionnaire and Patient-Reported Outcomes Measurement Information System (PROMIS) in order to assess the quality of life in patients with HHT	one year

Collaborators and Investigators

• Sponsor: University Hospital, Essen

Study record dates

Study Major Dates

• Study Start (Actual): January 22, 2024
• Primary Completion (Estimated): December 31, 2025
• Study Completion (Estimated): December 31, 2025

Study Registration Dates

• First Submitted: January 12, 2024
• First Submitted That Met QC Criteria: February 7, 2024
• First Posted (Actual): February 15, 2024

Study Record Updates

• Last Update Posted (Actual): March 30, 2025
• Last Update Submitted That Met QC Criteria: March 25, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Hematologic Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Hemostatic Disorders; Hemorrhagic Disorders; Vascular Malformations; Telangiectasis; Telangiectasia, Hereditary Hemorrhagic
• Other Study ID Numbers: 23-11519-BO

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: The datasets used and/or analysed during the current study are available on reasonable request

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No