Blood pressure medications may help in treating vascular EDS patients
Lower progression, death risk seen with beta and angiotensin II receptor blockers
People with vascular Ehlers-Danlos syndrome (vEDS) who are treated with certain blood pressure medications — namely beta blockers (BB) and/or angiotensin II receptor blockers (ARB) — are at lower risk of death and disease progression, a broader analysis of patients in the U.K. suggests.
“The observation of improved clinical outcomes in patients on ARB/BB therapy compared with those not on treatment has potentially important clinical consequences and is worthy of further research,” the researchers wrote. “In the absence of randomised controlled trial results, it supports the use of these agents in this very high-risk group.”
The study, “Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield,” was published in the European Journal of Human Genetics.
Observational study of 180 vEDS patients in the UK
vEDS is chiefly caused by mutations in the COL3A1 gene, which leads to tissue fragility in the vasculature (blood vessels) and an increased risk of serious bleeding events.
No standardized guidelines currently exist for providing medical care to people with vEDS, and “there is still limited evidence to demonstrate that medication reduces vascular events for vEDS patients, or which medications should be offered,” the researchers wrote.
The U.K. EDS National Diagnostic Service was established in 2009 to help diagnose people with vEDS and other rare types of EDS. In this study, researchers reported data for 180 vEDS patients who were seen via the program from its inception through 2021.
Most were diagnosed with vEDS following a disease-related bleeding event either in themselves or in a family member. Patients diagnosed after they had a bleeding event were much more likely to experience serious bleeding events than those diagnosed through family, which the researchers said highlights how detecting the disease early can be helpful in preventing serious problems.
“Genetic counselling following diagnosis can help patients and families to understand and adapt to the diagnosis as well as enabling cascade testing for other family members. Lifestyle advice is important in vEDS, including discussion about activities that may increase the risks of vascular or hollow organ rupture,” the team wrote.
The scientists also highlighted the importance of regular, low-intensity exercise for vEDS patients, and they noted that accessing medical care in emergency situations can pose unique challenges. “We have provided an ‘emergency information for medical professionals’ card for people with vEDS to carry. This ensures that the correct medical management can take place,” they noted.
Most of the patients had common physical features indicative of vEDS, like thin skin, easy bruising, attached or absent earlobes, and hollow eyes.
“Characteristic facial features were present in the majority of our cohort and are very helpful for directing genetic testing,” the researchers wrote.
Lesser progression seen with treatment, but more study needed
Most of these people (92%) were alive at the end of 12 years of follow-up, at which time they ranged in age from 15 to 76 years old. Measures of disease severity were generally stable over the course of follow-up — about 1 in 10 showed a worsening of disease state, and the change was usually small among those who did. A total of eight patients died of vEDS-related complications, the most common cause being ruptures or dissections (tears) of the abdominal or thoracic aorta.
Both BBs and/or ARBs are therapies used to lower blood pressure. Statistical analyses suggested that the risk of death or clinical worsening was lower in patients on these medicines compared to untreated patients.
“The number of patients on treatment who progressed was 10 out of 111 (9.01%) and 5 out of 15 (33.33%) in the untreated group,” the researchers wrote, adding that this “statistically significantly lower clinical progression score” suggests “a reduction in vascular events” with BB and/or ARB therapy.
Most were on a combination of losartan and the beta-blocker bisoprolol, the study noted, and treatment was found to be generally well tolerated.
“This is an observational study not a randomised controlled clinical trial, so is not designed to specifically compare the effects of medication. It nevertheless provides important real-life data on outcomes of vEDS patients on and off these medications over a median period of almost 5 years,” they continued, noting a need for more research in this area.
About half of the patients were female, and over the study’s years, 53 women had a combined total of 114 pregnancies.
In line with other data suggesting that pregnancy can be risky in vEDS patients, 1 in 10 of these women experienced a life-threatening or fatal bleeding event in pregnancy or around the time of birth. A total of nine babies were delivered to eight of the women; all of the births occurred early due to planned cesarean section.
“There are currently no international guidelines for managing pregnancy in women with vEDS,” the researchers wrote, highlighting another area where more research is needed.
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