Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are rare inherited connective tissue disorders that can have significant health implications. Yet, there is limited person centred evidence about the experiences of people living with these conditions in the UK.

The Marfan Trust partnered with Picker to better understand the experiences and needs of people with MFS and LDS, identify unmet needs and use the findings to inform improvements in care and support. 

Developing the survey 

We developed a national survey informed by a review of existing literature and conversations with people living with, or caring for someone with, MFS or LDS.

Five in-depth interviews explored people’s experiences and what mattered most to them when receiving care. We then developed and tested the questionnaire through five cognitive interviews to ensure it was clear, accessible and relevant.

The survey received 395 responses from people living with MFS or LDS and carers across the UK

Most respondents (86%) had received a genetic diagnosis and 81% were always or sometimes able to access a cardiologist when needed.

However, the findings highlighted various challenges:

• 53% felt the healthcare professionals involved in their care did not work well together. 

• Unmet needs included mental health support, pain management, osteopathy and podiatry. 

• Respondents reported gaps in information and personalised advice about their condition and treatment. 

• Fatigue, chronic pain and other symptoms had a significant impact on daily life, with 46% reporting that their employment had been affected.

The survey has given the Marfan Trust valuable evidence about the needs of its community and is helping to inform changes.

Findings have been shared with healthcare professional groups, with further engagement planned to raise awareness of MFS and LDS. The Trust is also strengthening access to specialist support, improving access to trusted information and developing resources to respond to quality-of-life challenges.