Ehlers-Danlos syndrome, Vascular type (type IV)

Treatment

What are the first steps after an initial diagnosis of vascular Ehlers-Danlos syndrome is made?

When someone is diagnosed with vascular Ehlers-Danlos syndrome (vEDS), they often go for some initial tests to learn how the disease has impacted their body. Blood vessels should be monitored by a heart doctor (cardiologist), through ultrasounds or CT angiograms to find any potential aneurysms or ruptures (breaks). Since the intestines are also prone to breaks and tears, they should be monitored through imaging by a gastrointestinal doctor (gastroenterologist). It is typically best to avoid an invasive method of checking the intestines (such as a colonoscopy), since the intestine walls can be weak and fragile. Some gastroenterologists suggest having a preventative surgery to remove some of the colon (colectomy) to limit the amount of breaks (ruptures) in the intestines. Women with vascular EDS need extra monitoring during pregnancy, as there can be a risk for a rupture of the uterus. They usually need to see a high-risk pregnancy doctor (a perinatologist or maternal fetal medicine) to help plan and take care of this monitoring. People with vascular EDS usually need to see a medical geneticist and genetic counselor after being diagnosed as well.

The main way to manage vascular EDS is by being extra careful to avoid trauma from heavy exercise (such as contact sports) and heavy lifting. These can add strain to the blood vessels and other organs, causing them to rupture. The skin bruises easily and wounds heal slowly. If someone with vascular EDS feels sudden pain that cannot be explained, they need to go to the hospital immediately.

References
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Is there a treatment for vascular Ehlers-Danlos syndrome?

What treatments can help the symptoms of vascular Ehlers-Danlos syndrome from getting worse?

Are there things to avoid if you have vascular Ehlers-Danlos syndrome?

Are there treatments for vascular rupture in vascular Ehlers-Danlos syndrome?

Is there a treatment for vascular Ehlers-Danlos syndrome?

As of 2020, there is no FDA-approved treatment for vascular Ehlers-Danlos syndrome (vEDS), and there is no cure. Treatment is mainly to treat the symptoms of the disease, which can vary from person to person. The blood vessels are usually monitored by a cardiologist (heart doctor) through ultrasounds or CT angiograms to find any potential aneurysms or ruptures (breaks). Since the intestines are also prone to breaks and tears, they should be monitored by a gastrointestinal doctor (gastroenterologist). Women with vascular EDS need extra monitoring during pregnancy, as there can be a risk for a rupture of the uterus. They usually need to see a high-risk pregnancy doctor (a perinatologist or maternal fetal medicine) to help plan and take care of this monitoring.

The main way to manage vascular EDS is by being extra careful to avoid trauma from heavy exercise (such as contact sports) and heavy lifting. These activities can add strain to the blood vessels and other organs, causing them to rupture. The skin bruises easily and wounds heal slowly. If someone with vascular EDS feels sudden pain that cannot be explained, they need to go to the hospital immediately.

Beta-blockers are used for the treatment of high blood pressure, protein in the urine, angina (type of chest pain caused by reduced blood flow to the heart), and are standard of care therapy in individuals with aortic dissections like those seen in vascular Ehlers-Danlos syndrome (vEDS).

One beta-blocker used in Europe to manage blood pressure and to try to change the rate of arterial complications seen in vEDS is celiprolol (Edsivo). Although other beta-blockers are FDA approved in the U.S., currently Celiprolol is not FDA approved for use in United States.

The BBEST Trial is the "Beta-Blockers in Ehlers-Danlos Syndrome Treatment" Trial published in Europe in 2010. The study analyzed the use of celiprolol to see if it could help improve outcomes in patients with vEDS. In April 2019, the researchers responsible for the study published new results, which tracked vEDS patients on Celiprolol for up to 17 years. Celiprolol is the only beta-blocker medication that has been studied in a randomized clinical trial for vascular EDS. The BBESTtrial asked the question, "Compared to getting no treatment at all, does using Celiprolol decrease the number of vascular events?" It is because of this trial that some physicians, particularly those in European countries such as France, are now recommending the use of celiprolol for the treatment of vEDS.

Having said this, there is some debate within the community of doctors that study and treat vEDS. Some doctors feel that since celiprolol is the only medicine that has been studied in vEDS and because it showed a benefit in that study, that if you can be on celiprolol you should be. Other doctors feel that the Celiprolol study had flaws and that there are other beta-blockers available in the United States already which can work just as well.

Currently celiprolol is not available in United States, as it is not an FDA approved drug. There is a pharmaceutical company named Acer Therapeutics who is in the process of trying to get FDA approval for the drug in the United States. In 2019, Acer Therapeutics Inc. announced that the US Food and Drug Administration (FDA) had denied the company's New Drug Application (NDA) for celiprolol (Edsivo) for the the treatment of vEDS and called for an "adequate and well-controlled" trial to determine whether celiprolol reduced the risk of clinical events in patients with vEDS". Following this decision, Acer therapeutics conducted a Type A meeting ("immediately necessary for an otherwise stalled drug development program to proceed) with the FDA to discuss next steps.

Around the time of the FDA letter, the Ehlers-Danlos Society and professional members of the vEDS community released a consensus statement on celiprolol in August 9, 2019. They noted that there is not enough evidence to know for sure whether people with vEDS should take celiprolol or another medication to manage blood pressure and try to change the rate of arterial complications. Some medical centers with expertise in vEDS use celiprolol for their patients. Other medical centers with expertise in vEDS use other blood pressure medications. They recommended that since there is not one clear best option right now, people with vEDS should talk with their health care provider to create a plan based on their personal medical history.

References
What treatments can help the symptoms of vascular Ehlers-Danlos syndrome from getting worse?

As of 2020, there is no FDA-approved treatment for vascular Ehlers-Danlos syndrome (EDS), and there is no cure. Treatment is mainly to treat the symptoms of the disease, which can vary from person to person. The blood vessels are usually monitored by a cardiologist (heart doctor) through ultrasounds or CT angiograms to find any potential aneurysms or ruptures (breaks). Since the intestines are also prone to breaks and tears, they should be monitored by a gastrointestinal doctor (gastroenterologist). Women with vascular EDS need extra monitoring during pregnancy, as there can be a risk for a rupture of the uterus. They usually need to see a high-risk pregnancy doctor (a perinatologist or maternal fetal medicine) to help plan and take care of this monitoring.

The main way to manage vascular EDS is by being extra careful to avoid trauma from heavy exercise (such as contact sports, like football), heavy lifting, and weight training. These activities can add strain to the blood vessels and other organs, causing them to rupture. The skin bruises easily and wounds heal slowly. If someone with vascular EDS feels sudden pain that cannot be explained, they need to go to the hospital immediately. Elective surgeries should be avoided if at all possible.

Beta-blockers are used for the treatment of high blood pressure, protein in the urine, angina (type of chest pain caused by reduced blood flow to the heart), and are standard of care therapy in individuals with aortic dissections like those seen in vEDS. One beta-blocker used in Europe to manage blood pressure and to try to change the rate of arterial complications seen in vEDS is celiprolol (Edsivo). Although other beta-blockers are FDA approved in the U.S., currently celiprolol is not FDA approved for use in United States. There is currently not enough evidence to know for sure whether people with vEDS should take celiprolol or another medication to manage blood pressure and try to change the rate of arterial complications. Some medical centers with expertise in vEDS use celiprolol for their patients. Other medical centers with expertise in vEDS use other blood pressure medications. They recommended that since there is not one clear best option right now, people with vEDS should talk with their health care provider to create a plan based on their personal medical history.

References
Are there things to avoid if you have vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome (vEDS) is a member of the Ehlers-Danlos group of syndromes. All these conditions have the same thing in common, which is an incorrectly formed collagen protein. Collagen is needed to help keep connective tissue strong. Connective tissue is the material between the cells of the body that connects and supports tissues and organs. It gives strength and elasticity to blood vessels and other organs. Incorrectly formed collagen leads to fragile blood vessels, organs, and flexible joints. The skin can bruise easily and cuts don't heal properly. Joints can dislocate, causing chronic pain. The most problematic symptom of vascular EDS is blood vessel rupture (breakage). In order to minimize the strain on these body parts (and especially the blood vessels), heavy physical activities should be avoided. These include contact sports (like football), heavy lifting, and weight training. Moderate exercise is usually okay. Elective surgeries should be avoided, if at all possible.

Some medical procedures, like the typical arterial angiograms or colonoscopies that may be needed, may need a different approach or done less frequently due to the fragile nature of the skin, arteries, intestines, and blood vessels.

If someone with vascular EDS has experienced some kind of physical trauma, or if they feel sudden pain that cannot be explained, they need to go to the hospital immediately.

References
Are there treatments for vascular rupture in vascular Ehlers-Danlos syndrome?

People who have vascular Ehlers-Danlos syndrome (EDS) are at high risk to have breaks (ruptures) in the blood vessels and organs. In people with vascular EDS the collagen that is in the walls of blood vessels and other organs is not properly formed. Properly formed collagen provides the walls with strength and elasticity. People with vascular EDS have fragile blood vessel walls that can break very easily. Since the blood vessel walls can break (rupture) easily, the skin can easily bruise and wounds take a long time to heal. The most common artery that ruptures is the aorta. If blood vessel walls break and they are not treated, this can become urgent and someone can die. Surgery to treat a bowel rupture, artery rupture, or other organ rupture can be life-saving.

As of 2020, there are no FDA-approved treatments for vascular EDS, and there is no cure. The best way to manage blood vessel rupture is to have frequent imaging studies (tests where the arteries and blood vessels are seen). A cardiologist (heart doctor) should monitor someone with vascular EDS for any potential aneurysms or ruptures in the blood vessels. Imaging technology such as ultrasounds or CT angiograms are often used for this.

In Europe, celiprolol is considered the standard of care for vEDS in France and other European countries. Celiprolol is in a family of drugs called 'beta-blockers'. Currently Celiprolol is not available in United States, as it is not an FDA approved drug. There is a pharmaceutical company named ACER Therapeutics who is in the process of trying to get FDA approval for the drug in the United States. In 2019, Acer Therapeutics Inc. announced that the US Food and Drug Administration (FDA) denied the company's New Drug Application (NDA) for celiprolol (Edsivo) for the the treatment of vascular Ehlers-Danlos syndrome (vEDS) and called for an "adequate and well-controlled" trial to determine whether celiprolol reduced the risk of clinical events in patients with vEDS.

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