New survey shows widespread challenges for people with Marfan and Loeys Dietz syndromes

A UK-wide survey of 395 people has revealed delays in diagnosis, limited access to specialist services, and significant impacts on daily life for those living with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS).

Commissioned by the Marfan Trust and conducted by Picker, the online survey ran between September and November 2025 and explored diagnosis, access to care, support needs, and quality of life for people with these rare inherited connective tissue disorders. The findings highlight substantial challenges aligned to the priorities set out in the 2021 UK Rare Diseases Framework, particularly around diagnosis, coordination, and improving access to specialist care.

Diagnostic delays and lack of awareness

Some respondents reported long waits for diagnosis, with one in ten waiting more than five years. One quarter said their health concerns were not taken seriously before receiving a formal diagnosis. While most respondents (86%) had received a genetic diagnosis, only 66% reported that family members had been offered testing.

Fragmented care and limited coordination

Coordinated care is essential for people with MFS and LDS, whose needs span multiple clinical specialties. However, only 34% reported having a named healthcare professional overseeing their care, while more than half (56%) said they wanted one. Two‑thirds said they “sometimes” or “often” had to organise their own care, and over half (53%) felt services “did not work well together”.

Gaps in access to specialist services

While most respondents (81%) could access cardiology care when needed, respondents reported unmet need in other areas:

• 69% of those wanting mental health support did not receive enough.
• 40% had unmet need for pain management services.
• 34% could not access osteopathy when required.
• 25% indicated an unmet need for podiatry

Information gaps

Less than a quarter of respondents (23%) felt they had received enough information from healthcare professionals about their condition and treatment, with many turning to the Marfan Trust website, social media or online peer groups for guidance.

Impact on quality of life

Fatigue (87%), chronic pain (72%) and gut problems (58%) were the most frequently reported symptoms affecting daily living. Many described profound impacts on work, mobility, mental health, and family life. Nearly half of respondents (46%) said their employment had been negatively affected, with those experiencing more symptoms more likely to be on long‑term sick leave or unable to work.

Commenting on the results, Joanne Jessup, Nurse Specialist at the Marfan Trust, said:

“At the Marfan Trust we receive hundreds of calls and emails to our helpline every year and many highlight issues with the lesser known, invisible symptoms of these rare conditions, symptoms like chronic pain, fatigue, the mental load of living with uncertainty. These survey results have given us an invaluable insight to our member’s lived experiences and provided the evidence required to push for change and service development to meet those needs.”

Amy Tallet, Head of Research at Picker, added:

“This research highlights urgent priorities for improving care for people living with Marfan and Loeys‑Dietz syndromes. Person centred care relies on timely diagnosis, clear information, and services that work together effectively, yet many respondents reported difficulties in these areas.

The findings provide a much needed evidence base to support providers and the Marfan Trust in driving improvements to care pathways and support for families.”  

Notes to editors

• For media enquiries, please contact the Picker Marketing and Communications team at [email protected] or call 01865 632 235.
• Picker designed and delivered the research, drawing on a scoping literature review, qualitative interviews, and questionnaire testing to ensure the survey captured the diverse needs and experiences of individuals and families affected by these rare conditions.
• Marfan Trust is a UK charity supporting people with Marfan syndrome and Loeys‑Dietz syndrome, funding research, and providing information and guidance for individuals and families.
• The survey was conducted between September-November 2025 and included 395 eligible respondents across the UK.
• The full report is available for public access and can be found on the Marfan Trust website: https://www.marfantrust.org/resources/results-of-our-nationwide-survey

Picker’s team of researchers and data scientists are available to support organisations in understanding, measuring, and using workforce and user experience. For queries about our services or to request a call, please contact [email protected].