Type 4 Vascular Ehlers-Danlos Syndrome (VEDS) is a rare genetic disorder that affects the connective tissues, specifically those found in blood vessels. Managing VEDS requires a multifaceted approach, involving various treatment strategies and lifestyle modifications. This comprehensive guide on how to effectively manage Type 4 VEDS will explore all management approaches for those who need it.
What is Vascular Ehlers-Danlos Syndrome?
Vascular Ehlers-Danlos Syndrome (VEDS) is a genetic tissue disorder that affects the body’s blood vessels and organs, leading to a high risk of life-threatening complications. It is caused by mutations in the COL3A1 gene. COL3A1 provides instructions for making type III collagen, a protein that gives structure and strength to blood vessels, skin, and other tissues. There is no known cure. However, there are several treatment options available to manage the symptoms and reduce the risk of complications.
While there is no cure for VEDS, several treatment options are available to manage the symptoms, reduce the risk of complications, and improve the quality of life of patients with VEDS. These include medical management, medications, surgery, lifestyle modifications, and experimental therapies. A multidisciplinary approach, involving a team of experts in VEDS management, is essential to provide personalized and effective care for VEDS patients. Further research is needed to develop and validate new therapies that can address the underlying molecular defects in VEDS and provide more durable and long-lasting benefits for patients. Find out more at DiSCOVER Celiprolol.
Life with VEDS
Living with vascular Ehlers-Danlos syndrome can present unique challenges. This rare genetic disorder affects the connective tissues in the body, particularly the blood vessels, making them fragile and prone to rupture. The median survival for individuals with VEDS in one study was 51 years as measured by the Kaplan–Meier estimator. (1) Vascular manifestations are among the most severe complications of EDS and involve a spectrum of arterial and venous anomalies, including progressive aneurysm formation or spontaneous vascular dissection and rupture. (2) While VEDS can significantly impact daily lives, proactive management strategies can help improve quality of life and minimize the risks associated with the condition. There are effective techniques and lifestyle adjustments that can empower individuals with VEDS to take control of their health and well-being.
VEDS Education and Awareness
Knowledge is power. Start with education about VEDS, symptoms, potential complications, and recommended treatments. Consult reputable medical sources, connect with support groups, and seek guidance from healthcare professionals experienced in managing VEDS. Building a strong foundation of understanding will equip you to make informed decisions about your health.
Collaborate with a VEDS Specialist Team
Developing a comprehensive healthcare team that specializes in VEDS is essential. Collaborate with healthcare professionals such as geneticists, cardiologists, vascular surgeons, and physiotherapists who have expertise in managing VEDS. Regular check-ups and consultations with your medical team will ensure early detection of any potential issues and facilitate prompt interventions. Each individual with vascular EDS should have a primary physician, who acts as the care coordinator, and who is linked to a geneticist or other specialist with detailed knowledge of the disorder. The care team should include the primary care practitioner, a vascular surgeon, and a general surgeon. (3)
Create a Personalized VEDS Management Plan
Working closely with your healthcare team, develop a personalized management plan tailored to your specific needs and circumstances. This plan should encompass regular monitoring of your blood vessels, heart, and other potentially affected areas. It may include measures like medication regimens, physical therapy, lifestyle modifications, and recommended dietary adjustments.
Experimental Approaches Studying VEDS
There are no specific treatments or cures for VEDS. However, several experimental therapies are being investigated to address the underlying genetic defect and improve the outcomes of patients with VEDS. These include:
- Beta Blockers: This approach measures the value of long-term beta blocker treatment (celiprolol) to prevent vascular complications in EDS type IV within the DiSCOVER Celiprolol study. Find more information here.
- Other Types of Beta Blockers:
1. Atenolol: Atenolol is a cardioselective beta blocker commonly used to treat high blood pressure, angina (chest pain), and certain heart rhythm disorders. It works by blocking beta-adrenergic receptors, reducing heart rate and blood pressure.
2. Metoprolol: Metoprolol is another cardioselective beta blocker frequently prescribed for conditions such as high blood pressure, angina, and heart failure. It helps lower blood pressure and reduce the workload on the heart.
3. Carvedilol: Carvedilol is a non-selective beta blocker that also blocks alpha-adrenergic receptors. It is often prescribed for heart failure and high blood pressure. Carvedilol’s dual action helps dilate blood vessels and improve cardiac function.
4. Bisoprolol: Bisoprolol is a cardioselective beta blocker used to manage high blood pressure and heart failure. It helps slow down the heart rate and reduce the workload on the heart.
5. Nadolol: Nadolol works by blocking the beta-adrenergic receptors, which helps reduce the heart’s workload and lower blood pressure. By slowing down the heart rate and decreasing the force of contractions, nadolol can help prevent excessive strain on the blood vessels in individuals with VEDS.
6. Propranolol: Propranolol is a non-selective beta blocker. It is commonly prescribed for cardiovascular conditions, anxiety disorders, migraine prevention, and essential tremor.
- Angiotensin II receptor blockers (ARBs): ARBS are a class of medications used to treat various cardiovascular conditions, including high blood pressure and certain heart conditions. ARBs can help manage VEDS by reducing the strain on blood vessels and potentially decreasing the risk of arterial dissections or aneurysms. With ongoing research they are believed to work by inhibiting the effects of angiotensin II on blood vessels, leading to vasodilation (widening of blood vessels) and reduced blood pressure. By reducing the pressure on weakened blood vessels, ARBs may help mitigate the risk of complications associated with VEDS.
- Gene therapy: This technique aims to deliver a functional copy of the COL3A1 gene to the patient’s cells using viral vectors or other gene delivery systems, in order to restore the production of normal type III collagen and improve the strength and stability of blood vessels and tissues. Several preclinical studies have shown promising results in animal models of VEDS, but more research is needed to optimize the safety and efficacy of gene therapy in humans.
- Collagen replacement therapy: This approach involves the administration of exogenous collagen to the patient’s body, using synthetic or natural sources, to supplement the deficient type III collagen and enhance the structural integrity of the blood vessels and tissues. Some studies have suggested that collagen replacement therapy may improve the healing of skin wounds and reduce the incidence of arterial rupture in VEDS patients, but further clinical trials are needed to confirm its safety and efficacy.
- Pharmacological chaperone therapy: This approach aims to enhance the folding and stabilization of mutant type III collagen molecules, using small molecules or other compounds, to promote their secretion and function in the extracellular matrix. Several in vitro and in vivo studies have shown that pharmacological chaperones can improve the secretion and assembly of mutant type III collagen in VEDS fibroblasts and animal models, but their clinical applicability and long-term effects are still under investigation.
Medical Management for Life With VEDS
- Celiprolol: Celiprolol, a beta-blocker, has shown promising results in reducing arterial ruptures in VEDS patients. DiSCOVER Celiprolol study is ongoing, find more information here. Celiprolol is an investigational drug and therefore its safety and efficacy have not been established. It is not currently FDA approved to treat VEDS in the United States. There is no guarantee that celiprolol will receive health authority approval or become commercially available for Vascular Ehlers-Danlos Syndrome.
- Consult with a healthcare professional to determine if celiprolol is suitable for your specific case. Adverse events were severe fatigue in one patient after starting 100 mg celiprolol and mild fatigue in two patients related to dose up titration. (4)
- Medications: Symptom control and management of comorbidities may require medications such as pain relievers, blood pressure medications, or medications to address gastrointestinal issues.
- Surgical Interventions: In cases of acute emergencies like arterial dissections or ruptures, prompt surgical intervention may be necessary.
- Regular Monitoring: Ongoing medical check-ups, imaging studies, and laboratory tests are essential for detecting potential complications early.
Lifestyle Modifications for People with VEDS
- Physical Activity: Engage in regular physical activity, guided by healthcare professionals, to maintain cardiovascular health. Exercise recommendations should consider the limitations and potential risks associated with VEDS.
- Diet: Follow a balanced diet that supports cardiovascular health. Hydration and potential dietary modifications may be necessary based on individual needs.
- Injury Prevention: Avoid high-risk activities and take precautions to minimize trauma, as VEDS patients have fragile blood vessels. Recognize activities that could potentially lead to injuries or complications.
- Stress Management: Practice stress reduction techniques to minimize the impact of stress on vascular health. Coping mechanisms and support from mental health professionals can improve overall well-being.
Prioritize Cardiovascular Health While Living with VEDS
Given the heightened risk of cardiovascular complications in VEDS, adopting a heart-healthy lifestyle is crucial. Quitting smoking, maintaining a healthy weight, managing blood pressure levels, and engaging in regular low-impact exercises are essential for cardiovascular well-being. Consult with your healthcare team to determine appropriate exercise routines that minimize the risk of injury.
Injury Prevention for People with VEDS
To mitigate the risk of injury, it is vital to maintain an environment that prioritizes safety. Remove potential hazards such as sharp objects and minimize activities that may strain your blood vessels, such as heavy lifting or contact sports. Make your friends, family, and close associates aware of your condition so they can provide support and assist you in maintaining a safe environment. VEDS is associated with an increased risk of devastating arterial events. As many as 82.4% of adult patients had a record of overall arterial lesions (MSA and/or aorta) before or during follow-up since their molecular diagnosis. (5)
Emotional Support for Life with VEDS
Living with VEDS can be emotionally challenging. Seek emotional support from loved ones, join support groups, or consider therapy to cope with the emotional impact of the condition. Sharing experiences and connecting with others who understand what you’re going through can be immensely helpful in navigating the journey.
Stay Informed About VEDS and Engage in Research
Stay up to date with the latest research and advancements in the field of VEDS. Knowledge is continuously evolving, and new treatments and management strategies may emerge. Engage in clinical trials or research studies whenever possible to contribute to scientific advancements and potentially gain access to novel treatment options.
Physical Therapies for VEDS Management
Physical therapy techniques such as low-impact exercises, stretching, and strengthening exercises under the guidance of a qualified physical therapist may help improve joint stability, muscle tone, and overall mobility. Physical therapy can also focus on posture correction and body mechanics to reduce the risk of injury.
Acupuncture to Assist with Living with VEDS
Acupuncture, a traditional Chinese medicine practice, involves the insertion of thin needles into specific points on the body. Some individuals find that acupuncture helps with pain management and relaxation. However, its effectiveness in managing VEDS-specific symptoms has not been extensively studied.
Mind-Body Techniques for Managing VEDS
Mind-body approaches, such as relaxation techniques, meditation, deep breathing exercises, and mindfulness, may assist in stress reduction, pain management, and improving overall well-being. These techniques can be incorporated into a self-care routine to support mental and emotional health.
Dietary Supplements for Life with VEDS
Some individuals with VEDS may consider discussing dietary supplements with their healthcare provider. For example, vitamin C and proline/lysine supplements are thought to support collagen production, but their effectiveness in managing VEDS has not been conclusively proven. It is important to consult with a healthcare professional before starting any new dietary supplement regimen.
Assistive Devices for VEDS Management
Depending on the specific symptoms and joint instability associated with VEDS, assistive devices such as orthotic supports, braces, splints, or mobility aids may be recommended to enhance stability, reduce the risk of injury, and improve functional abilities.
How to Approach Alternative Management Techniques for VEDS
It is crucial to emphasize that alternative approaches should be integrated into a comprehensive management plan and should not replace medical interventions or advice from healthcare professionals. It is recommended to consult with healthcare providers who are knowledgeable about VEDS to assess the potential benefits and risks of any alternative approaches.
Psychological and Emotional Support for Those Living with VEDS
- Coping Strategies: Develop coping mechanisms to deal with the psychological impact of living with VEDS. Seek support from family, friends, or support networks.
- Support Networks: Connect with patient advocacy organizations, online communities, and support groups to share experiences and gain support from individuals facing similar challenges.
- Professional Mental Health Support: Consider seeking professional help from mental health professionals who specialize in chronic illness or genetic conditions to address emotional challenges and improve mental well-being.
COL3A1 Gene, Genetic Counseling, and Family Planning for VEDS Management
- Genetic Counseling: Consult with a genetic counselor to understand the inheritance pattern of VEDS, genetic testing for COL3A1 gene, and how to make informed decisions regarding family planning.
- Prenatal Testing: Discuss the possibility of prenatal testing if you are planning a pregnancy or have concerns about passing on VEDS to your children.
- Pregnant women with vascular EDS should be considered at risk and receive special care. (6)
- About 50% of affected individuals have inherited the COL3A1 pathogenic variant from an affected parent, and about 50% of affected individuals have a de novo pathogenic variant. (7)
How Does the COL3A1 Gene Mutate?
The COL3A1 gene, which contains the instructions for making type III collagen, is located on chromosome 2 and has 52 exons. Mutations in any of these exons can lead to Vascular Ehlers-Danlos Syndrome (VEDS), which is inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed to develop the condition. If a parent has VEDS, there is a 50% chance that their child will inherit the mutated gene and develop the condition.
VEDS Genetic Counseling for COL3A1 gene mutation
Genetic counseling involves meeting with a healthcare professional who specializes in genetics and genetic testing. The counselor can help individuals understand the inheritance pattern of the condition, and provide information on the risk of passing the mutated gene on to future generations.
Genetic counseling can also help individuals with Vascular Ehlers-Danlos Syndrome and their family members make informed decisions about family planning. Some individuals may choose to undergo prenatal testing to determine if their child has inherited the mutated gene. Others may choose to adopt or use assisted reproductive technologies, such as in vitro fertilization with preimplantation genetic diagnosis, to reduce the risk of passing the condition on to their children.
In addition to providing guidance on family planning, genetic counseling can also offer emotional support and resources for coping with a diagnosis of Vascular Ehlers-Danlos Syndrome. This can include connecting individuals with support groups and other resources for individuals and families affected by the condition.
Managing and Treating VEDS
Managing VEDS requires a proactive approach, incorporating a holistic perspective that encompasses physical, emotional, and social aspects of life. By educating ourselves, collaborating with healthcare professionals, and implementing personalized management plans, we can empower ourselves to live fulfilling lives despite the challenges posed by VEDS. Seek support, stay informed, and embrace strategies that prioritize your well-being.
Research on VEDS
Research is ongoing to better understand the underlying causes of VEDS and to develop new treatments and management programs. Clinical trials are currently underway to test the safety and efficacy of new treatments for VEDS, including gene therapies and medications that target specific symptoms of the disorder. It’s important for individuals with VEDS to stay up to date on the latest research and to discuss any new treatment options with their healthcare provider.
Managing Type 4 Vascular Ehlers-Danlos Syndrome (VEDS) requires a comprehensive and individualized approach. It is crucial to remember that VEDS management extends beyond medication alone. Lifestyle modifications, psychological support, and patient advocacy play integral roles in enhancing overall well-being and managing the challenges associated with this condition. By staying informed, connecting with healthcare professionals, and engaging in research efforts, patients with Type 4 VEDS can navigate their journey with resilience and hope. As the medical community continues to advance its understanding of Type 4 VEDS, we can anticipate further breakthroughs in research and treatment options, leading to improved outcomes and a better quality of life for individuals living with this condition.
It is crucial to work closely with a healthcare team experienced in managing VEDS to develop an individualized management plan based on your specific needs and medical history. Regular communication and collaboration with healthcare professionals are key to ensuring optimal management of Type 4 VEDS.
VEDS DiSCOVER Trial Study
Be part of advancing the treatment of VEDS with this exciting new study. The DiSCOVER Trial is a decentralized study evaluating Celiprolol on VEDS-related events in individuals with confirmed diagnosis of Vascular Ehlers-Danlos Syndrome who meet specific criteria. If you pre-qualify, a Science 37 Patient Experience Coordinator will contact you within 24 hours via a phone call to discuss the study in more detail.
To be eligible for the Discover Celiprolol trial, individuals must have a confirmed diagnosis of VEDS based on genetic testing and meet specific clinical criteria, be at least 15 years old, and not currently pregnant.
Acer Therapeutics is actively seeking potential participants with a confirmed diagnosis of Vascular Ehlers-Danlos Syndrome caused by a COL3A1 mutation who are interested in participating in this investigational trial.
If eligible, participation is remote so you can continue living as you normally do. A registered nurse visits your home, and periodically study visits will be conducted online. All instructions will be provided, and the investigational drug will be shipped directly to you.
Celiprolol is an investigational drug and therefore its safety and efficacy have not been established. There is no guarantee that celiprolol will receive health authority approval or become commercially available for Vascular Ehlers-Danlos Syndrome.
Learn more and find out if you are eligible for the VEDS clinical trial.
Have more questions? Check out our FAQ for some answers.
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