NCT06261333

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).

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: University Hospital, Essen · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Hereditary Hemorrhagic Telangiectasia

Interventions

Type	Name	Description
OTHER	Questionnaires	No Intervention

Timeline

• Start date: 2024-01-22
• Primary completion: 2025-12-31
• Completion: 2025-12-31
• First posted: 2024-02-15
• Last updated: 2025-03-30

Locations

1 site across 1 country: Germany