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Cross-sectional, survey study measuring Health Related Quality of Life (HRQOL) of patients with Hereditary Hemorrhagic Telangiectasia



Clifford Weiss, MD from Johns Hopkins University has been awarded a $50,000 grant from Cure HHT for his research entitled “Cross-sectional, survey study measuring Health Related Quality of Life (HRQOL) of patients with Hereditary Hemorrhagic Telangiectasia “. Dr. Weiss is Medical Director of The Johns Hopkins Center for Bioengineering, Innovation and Design (CBID), Professor of Radiology and Radiological Science, and Director of the HHT Center of Excellence at Johns Hopkins.



Quality of life and patient reported outcome research is an increasingly critical part of understanding illness experiences, health care performance and the development and evaluation of new therapies. More specifically, Health Related Quality of Life (HRQOL) captures how disease and health impacts the patient’s physical, emotional, and functional well-being. HRQOL studies conducted in the HHT population thus far have helped elucidate the lived experiences of patients with HHT, identify new areas of clinical concern, and clarify areas where further treatments and therapies may be necessary. To date, these studies have demonstrated that HHT is associated with poor physical and psychological quality of life. However, there is still a paucity of research clarifying the relationship between demographic and clinical signs and quality of life in this population.

While two Patient Report Outcomes (PRO) instruments (ESS and NOSE-HHT) have been developed and validated specifically for those HHT patients with epistaxis, no HHT specific PRO instruments that aim to capture non-nose, systemic symptoms have been developed to date. This study will help provide the foundational data and analysis that will allow us to create a short form instrument comprised of items essential to evaluating systemic, HHT-specific HRQOL to be integrated into clinical use. This tool will help guide clinicians to better understand the holistic illness experience of patients with HHT and provide better, patient-oriented care.


Proposed Research Study

Phase 1 will build a foundational understanding of the relationship between existing, validated Quality of Life (QOL) measures and the HHT population then create a preliminary, short-form HHT-specific QOL instrument. This will be accomplished through a custom survey distributed through Cure HHT email, newsletter and social media. Survey questions will address the following domains: sex, race, ethnicity; HHT diagnostic criteria (clinical and genetic); key clinical symptoms; and past treatments (surgery, procedures, and medications. Validated survey metrics used will include: SF-36 (general health-related QOL); ESS and NOSE-HHT (nosebleed specific); PROMIS-Fatigue (fatique specific); and HADS (anxiety and depression). All survey responses will be anonymous.


Project Aims

Aim 1. Examine how HRQOL, fatigue and depression and anxiety levels among patients with HHT compare to those in the general US population and with other patient populations with chronic illness.

Aim 2. Examine inter-correlations between ESS, NOSE-HHT, SF36, HADS, and PROMIS Fatigue scale scores.

Aim 3. Explore what demographic (age, sex, race, ethnicity) and clinical factors (Curacao criteria, genetic mutation, epistaxis, telangiectasia, visceral AVMs, focused review of systems, past treatment etc.) are associated with lower scores on our measurements of overall HRQOL, HHT symptom severity, fatigue, depression and anxiety.

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