Ehlers-Danlos Syndrome which is also known as EDS is a group of genetic disorders that affect the connective tissues in the body, leading to a wide range of symptoms, including joint hypermobility, skin that bruises easily and chronic pain. Living with EDS is very difficult because it has a significant impact on quality of life, EDS is often misunderstood, misdiagnosed or overlooked entirely.
In this blog we will explore everything that you need to know about Ehlers-Danlos Syndrome, from its causes and symptoms to diagnose, treatment and coping strategies. Whether you are the one who lives with this condition or you know someone who lives with EDS, or simply curious about this condition, this blog will provide you the complete information that you need.
What is Ehlers-Danlos Syndrome(EDS)?
Ehlers-Danlos Syndrome (EDS) is actually a genetic disorder that affects the connective tissues of the body. Connective tissues are like the glue that holds the body together. Not only that but connective tissue also provides support to the skin, bones, blood vessels and other organs. In people with EDS, these tissues are weaker and more elastic than those of normal people, leading to a variety of symptoms.
There are a total of 13 recognized types of Ehlers-Danlos Syndrome, each with its own set of features and genetic causes, but the most common are 3 which are given below.
Hypermobile EDS (hEDS): characterized by joint hypermobility, chronic pain, and soft, stretchy skin.
Classical EDS (cEDS): Marked by extreme stretchy skin, fragile tissues, and easy bruising.
Vascular EDS (vEDS): This type of Ehlers-Danlos Syndrome is very rare but severe, affecting blood vessels and internal organs, increasing the risk of life-threatening complications.
Causes of Ehlers-Danlos Syndrome
EDS is caused by mutations in the genes that are responsible for producing collagen and other connective tissue proteins. When the normal genes for producing collagen are mutated, the body produces defective collagen and thus leads to the symptoms of EDS.
Inherited: Most types of EDS are inherited in an autosomal dominant pattern, which means that there is a need for only one copy of the mutated gene to cause the disorder or disease.
Spontaneous mutations: In some cases, EDS can occur due to spontaneous genetic mutations with no family history of the disease.
Symptoms of EDS
There are some common symptoms which are described below:
- Joint hypermobility: Joint hypermobility is the most common symptom of EDS. In this condition, joints move beyond the normal range of motion. When the motion of the joint exceeds the normal range it may cause dislocation or subluxation.
- Chronic Pain: Pain is also another most common symptom of Ehlers-Danlos Syndrome. In this condition, there is persistent pain in the joints, muscles, and other areas of the body.
- Soft, Stretchy Skin: Soft and stretchy skin is another symptom of EDS. In this case, the skin feels velvety and can be stretched more than usual.
- Easy bruising: People who have EDS, their skin bruises easily and takes a long time to heal.
- Fatigue: Another common symptom of EDS is fatigue. People with EDS become tired immediately and tiredness does not improve with rest.
- Digestive issues: Digestive issues also come among the symptoms of EDS. Several problems include irritable bowel syndrome (IBS) or gastroparesis.
- Cardiovascular Symptoms: Cardiovascular issues are also among the symptoms of EDS. Several issues include mitral valve prolapse or orthostatic intolerance.
- Dental problems: Dental problems also come among the symptoms of EDS. Issues like crowded teeth and gum diseases are very common in persons with Ehlers-Danlos Syndrome.
Diagnosing Ehlers-Danlos Syndrome
Diagnosing EDS is very difficult and can be challenging because its symptoms overlap with many other conditions. If you suspect or have any doubt that you have EDS, it is very important to consult with a healthcare professional who specializes in connective tissue disorders. The process of diagnosing EDS typically involves:
- Clinical Evaluation: A thorough physical examination in the clinic to assess joint hypermobility, skin elasticity and other symptoms of EDS.
- Family history: Family history also plays a main role in diagnosing EDS. A review of your family’s medical history has the ability to identify genetic patterns and diagnose EDS.
- Genetic testing: Some types of EDS can be confirmed by genetic testing. Actually, genetic testing can confirm the presence of specific mutations.
- Imaging Tests: X-rays, MRI, or ultrasounds may be used to assess joint or organ damage.
Living with Ehlers-Danlos Syndrome: Daily challenges
Living with EDS is very difficult and can feel like navigating a minefield. Simple tasks like walking, typing or even holding a cup can become painful or very difficult. Now, let’s discuss some of the most common daily life challenges faced by people with EDS.
- Chronic pain: One of the most common issues faced by people with Ehlers-Danlos Syndrome is chronic pain. People feel persistent pain in the body that affects mobility and quality of life.
- Frequent injuries: The problem of injuries is also very common in people with EDS. Joint dislocations or sprains are very common in them.
- Fatigue: The most common and heartbreaking issue faced by people with EDS is fatigue. People do not even have the power to walk. Overwhelming tiredness makes it hard for people to stay active.
- Social isolation: The unpredictability of symptoms can lead to canceled plans and feelings of loneliness.
- Emotional strain: People who live with Ehlers-Danlos Syndrome are very weak emotionally. These people lead to anxiety and depression.
Not only that, but there are also many other challenges faced by the people with EDS. All these people need effective management strategies to cope with this situation.
Managing Ehlers-Danlos Syndrome: Tips and Strategies
While there is no proper cure for Ehlers-Danlos Syndrome, there are many ways to manage its symptoms and improve quality of life. Here are some practical tips:
1. Physical therapy
- Physical therapy helps a lot in managing the symptoms of EDS.
- A physical therapist helps in strengthening muscles and stabilize joints.
- People must focus on low impact exercises like swimming or yoga to increase their physical strength.
2. Pain management
- People with EDS must use hot or cold packs to relieve pain and inflammation.
- Also consider medications for pain management but avoid overuse.
- Massage is also very helpful in managing pain.
3. Joint protection
- Use braces or supports to stabilize unstable joints.
- You must avoid those activities that put strain on joints.
4. Skin care
- Skin care is also very important for managing Ehlers-Danlos Syndrome.
- You must keep your skin moisturized to prevent dryness and cracking.
- Avoid using harsh chemicals or soaps on the skin that cause irritation.
5. Diet and nutrition
- Try to eat a healthy and balanced diet which is rich in vitamins and minerals to support the health of tissues of the body.
- Stay hydrated to maintain skin elasticity.
6. Mental health support
- Mental health is very important in this situation so consult with a professional or seek therapy to support emotional challenges or do techniques like deep breathing, yoga, meditation, or mindfulness.
7. Build a support network
- Connecting with other people who have EDS is very important.
- Educate your family and friends about your condition so that they can understand you better and support you.
Conclusion
Living with Ehlers-Danlos Syndrome is undoubtedly very challenging but with the help of the right strategies and support it is possible to lead a fulfilling life. By understanding your symptoms, making lifestyle adjustments and seeking appropriate medical care you can take care of your health and improve the quality of your life.
If you are the one who is leaving with this condition then remember you are not alone. There is a growing group of people who understand what you are going through and are here to support you. So, don’t panic and handle every situation with calmness and peace.