Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps he is taking to improve (a) diagnosis and (b) treatment pathways for patients with (i) hypermobile Ehlers-Danlos Syndrome, (ii) Postural Orthostatic Tachycardia Syndrome and (iii) Mast Cell Activation Syndrome.

The Government is committed to improving the lives of those living with rare diseases, such as hypermobile Ehlers-Danlos syndrome (hEDS) and mast cell activation syndrome. The UK Rare Diseases Framework sets out four priorities, collaboratively developed with the rare disease community, which include helping patients get a final diagnosis faster and improving access to specialist care, treatments, and drugs. We remain committed to delivering under the framework and will publish an annual England action plan in 2025. With over 7,000 identified rare diseases, the framework and action plans focus on shared challenges across all rare diseases.

NHS England has a website page on hEDS and this notes the passing of information on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS) to help scientists look for better ways to prevent and treat this condition. NHS England’s website page is available at the following link:

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

Be Part of Research is a tool that can support people living with rare diseases in engaging with research. Currently on Be Part of Research there is a study recruiting those with hEDS to take part in research to help advance the understanding of diagnostic imaging in this condition. Further information is available at the following link:

https://bepartofresearch.nihr.ac.uk/trial-details/trial-detail?trialId=24730&location=&distance=

To improve awareness of postural orthostatic tachycardia syndrome (PoTS) amongst healthcare professionals, and specifically general practitioners, the Royal College of General Practitioners provides training on PoTS as part of its syncope toolkit. Further information is available at the following link:

https://elearning.rcgp.org.uk/course/view.php?id=500

In addition, the NICE has produced a clinical knowledge summary on blackouts and syncope, last updated in November 2023, which outlines how clinicians should assess and diagnose PoTS. The NICE’s clinical knowledge summary is available at the following link:

https://cks.nice.org.uk/topics/blackouts-syncope/diagnosis/assessment/