Syndrome de Marfan den-i.lu asbl

26/10/2026

26/10/2026

As gene editing moves from the laboratory into clinical practice, transforming lives, we explore its potential for people with Marfan syndrome. In this second article, we build on our earlier exploration of gene editing and consider what these developments might mean for inherited conditions beyond blood disorders. With the same tool now treating both sickle cell disease and thalassaemia, an exciting question emerges: what might this one day mean for connective tissue and inherited aortic disorders? https://tinyurl.com/2r7z44jj

20/10/2026

Vrouwen uit de Contactgroep:
Ervaringen gevraagd

Casus:
'......46 jaar, b-dissectie en een taaa ondergaan. Een restdissectie is over, maar stabiel. Veel perimenopauze klachten.

Huisarts gooide het op Marfan, maar dat was te makkelijk. Daarna wilde ze de pil voorschrijven. Door zelfonderzoek zag mw dat dit totaal niet handig is in haar situatie.
Vervolgens is mw verwezen naar het streekziekenhuis. Haar spiraal wordt daar elke 5jr gezet. Afspraak met gynaecoloog staat.

Intussen heeft ze haar vaatchirurg in het Amc benaderd wat wel/niet mag, bijv qua HST (Hormonale substitutietherapie) of nieuwe spiraal etc. Arts had hier geen antwoord op en gaat nog verder onderzoeken. Ze vond het wel een hele interessante vraag. Er is verder (nog) geen terugkoppeling geweest, dus wellicht is er geen antwoord (arts is doorgaans erg betrokken).'

Welke vrouw(en) kan/kunnen hebben hier ervaring mee? Welke keuze is het voor jou geworden en waarom?

Ivm privacy graag je reactie via e-mail:
[email protected].

Alvast heel hartelijk dank! 🙏🏻

12/10/2026

08/10/2026

The body’s great web of connections, supports and links, connective tissue allows its many systems to work together and literally holds us together. Found throughout the body, it takes many forms, providing the vital connections and support that give our tissues and organs their structure and allow them to function. Some forms are far from obvious, and connective tissue performs more jobs than you might imagine.

When connective tissue is weakened, the effects can be wide-ranging and sometimes difficult to see. There are many different disorders of connective tissue. Today, we look at the physicians whose names have become synonymous with four of these conditions. https://tinyurl.com/mr2thcap

07/10/2026

📍 Science in Barcelona

Pictured from left to right: Elena, Carmen, Romain and Ida, the ePAG Patient Advocates from the VASCERN HTAD working group (Heritable Thoracic Aortic Disease).

Over the past few days, the M.E.N. and VASCERN HTAD ePAG Advocates have been exploring the future of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome and related conditions at the Marfan Foundation Science in Barcelona Conference.

A key theme throughout the conference was the growing role of precision medicine, where a person's specific genetic variant will increasingly help guide decisions on monitoring, imaging, medication, surgery and rehabilitation. This personalized approach holds great promise for improving outcomes and quality of life for people living with HTAD conditions.

One of the highlights was a presentation by Prof. Bart Loeys, who shared exciting findings on the potential protective modifier gene KLF15. This discovery emerged from his work with the 101 Genomes Project and the first part of the GEMS cohort study (50 participants). These findings may provide important new insights into why disease severity can differ so much between individuals carrying similar genetic variants.

🔗 In the link below, Prof. Loeys explains these promising developments and what they could mean for the future of personalized care for people with HTAD conditions.
https://youtu.be/tHyBcahBjXU?is=5czVgcmzMBxtS8YC

We are deeply grateful to all researchers, clinicians, patient advocates and study participants whose dedication continues to advance knowledge and improve the lives of patients and their families.

06/10/2026

05/10/2026

Classification and categorisation can be useful. We sometimes use labels to help us make sense of things. Marfan and Loeys-Dietz syndromes fall within the label of rare disease. Rare diseases are rare alone, but common together. Marfan syndrome affects approximately 1 in 3,000 people in the UK, whilst the prevalence of Loeys-Dietz syndrome is unknown but estimated to be around 1 in 50,000.

For our resources on Marfan and Loeys-Dietz syndromes, click on this link: https://www.marfantrust.org/pages/84-resources

02/10/2026