Living With Ehlers-Danlos Syndrome: Causes and Symptoms

What is Ehlers-Danlos syndrome (EDS)?

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body, which provide support to the skin, joints, blood vessels and organs. People with EDS have tissues that are more stretchy, fragile or easily injured.

What Are Statistics About Ehlers-Danlos Syndrome?

Prevalence

• EDS is estimated to affect about 1 in 5,000 to 1 in 20,000 people worldwide, depending on the type.
• Classic EDS (Type 1) is the most common type, but rarer types, such as vascular EDS (Type 4), are less common.

Types of EDS

• There are 13 recognized types of EDS, with varying degrees of severity and different genetic causes. The most common types are:
  • Classic EDS (Type 1): Most prevalent among those with EDS, but specific statistics for this subtype aren’t often broken down in general prevalence estimates.
  • Hypermobile EDS (Type 3): Affects 1 in 10,000 people and is one of the most common types after Classic EDS.
  • Vascular EDS (Type 4): A rare and more severe form, occurring in approximately 1 in 250,000 people.

Gender and Age

• EDS affects both males and females, though certain types (like hypermobile EDS) may be more commonly diagnosed in women.
• Symptoms often appear in childhood or adolescence, though they can also be diagnosed later in life.

What Are Causes Ehlers-Danlos Syndrome?

Causes of EDS are related to mutations in specific genes and these mutations are inherited in one of two ways:

1. Autosomal Dominant Inheritance: In this case, only one copy of the mutated gene (from either parent) is enough to cause the condition. Many types of EDS follow this pattern, so a person has a 50% chance of inheriting the disorder if one parent has it.
2. Autosomal Recessive Inheritance: For certain types of EDS, both copies of the gene (one from each parent) need to be mutated for a person to develop the disorder. In this case, both parents are typically carriers without showing symptoms, but their children can inherit the condition.

What is Ehlers-Danlos Syndrome Type 1 (EDS Type1)?

Ehlers-Danlos Syndrome Type 1 (EDS Type 1), also known as Classic EDS, is one of the most common types of Ehlers-Danlos syndrome. It is caused by mutations in the COL5A1 or COL5A2 genes, which affect the production of type V collagen, an important protein for the structure and function of connective tissues.

Key Features of EDS Type 1 (Classic EDS)

1. Hyper-elastic skin: The skin is unusually soft, smooth and stretchy. It can stretch more than normal skin and may be more prone to bruising and scarring.
2. Joint hypermobility: Joints are often overly flexible and can move beyond the normal range of motion and cause to joint instability and an increased risk of dislocations or sprains.
3. Easy bruising and fragile skin: Skin bruises easily and wounds may take longer to heal, often leaving noticeable scars.
4. Hypermobility of joints: People with EDS Type 1 may experience frequent dislocations or subluxations (partial dislocations) of joints, especially in the shoulders, knees and fingers.
5. Delayed wound healing: Cuts or injuries can heal more slowly and scars may be wider or more noticeable than normal.

Additional Symptoms

• Muscle weakness and fatigue
• Skeletal deformities (e.g., scoliosis, flat feet)
• Dental issues, such as gum disease or loose teeth

Inheritance:

EDS Type 1 follows an autosomal dominant inheritance pattern, which means a person only needs one copy of the mutated gene (from either parent) to develop the condition.

What is Ehlers-Danlos Syndrome Type 2 (EDS Type 2)?

Ehlers-Danlos Syndrome Type 2 (EDS Type 2), also known as Classical-like EDS, is a rare form of Ehlers-Danlos syndrome that shares some features with Classic EDS (Type 1) but has distinct characteristics. This type is less commonly diagnosed compared to Classic EDS.

Key Features of EDS Type 2 (Classical-like EDS)

1. Skin hyper-elasticity: Skin is soft, smooth and stretches more than normal skin, similar to Classic EDS. But stretchiness of the skin may not be as extreme.
2. Joint hypermobility: People with EDS Type 2 have joints that are overly flexible, often beyond the normal range of motion. This can cause to joint instability, frequent dislocations and hyperextension of the limbs.
3. Fragile skin and easy bruising: Like Classic EDS, people with EDS Type 2 tend to bruise easily and can have fragile skin that can tear with minimal trauma.
4. Scarring: People with EDS Type 2 may experience wider scars or scars that form abnormally, similar to those with Classic EDS.
5. Skeletal features: People with this type may also develop skeletal issues, including scoliosis (curvature of the spine), flat feet and joint deformities. Muscle weakness and fatigue are common.

Differences from Classic EDS (Type 1)

• Less severe skin fragility: Skin may not be as fragile or as stretchy as in Classic EDS but it still exhibits some hyper-elasticity.
• Different genetic mutation: EDS Type 2 is caused by mutations in the TNXB gene, which affects the production of the protein tenascin-X, important for the strength and stability of connective tissues.

What is Ehlers-Danlos Syndrome Type 3 (EDS Type 3)?

Ehlers-Danlos Syndrome Type 3 (EDS Type 3), also known as Hypermobile Ehlers-Danlos Syndrome (hEDS), is one of the more common types of Ehlers-Danlos syndrome. It primarily affects the joints and connective tissues and is characterized by joint hypermobility (extremely flexible joints) and other connective tissue-related issues.

Key Features of EDS Type 3 (Hypermobile EDS)

1. Joint Hypermobility: Hallmark feature of EDS Type 3 is joint hypermobility, means that joints can move beyond the normal range of motion. This can cause to joint instability and an increased risk of joint dislocations, subluxations (partial dislocations) and other joint-related injuries.
2. Frequent Joint Dislocations and Sprains: Because of excessive flexibility of the joints, people with EDS Type 3 are more likely to experience joint dislocations or sprains, especially in the shoulders, knees, elbows and fingers.
3. Muscle and Joint Pain: People with hEDS often experience chronic muscle pain and joint pain due to the increased stress on the joints and soft tissues. This pain may be constant or flare up with activity.
4. Soft, Stretchy Skin: Like other forms of EDS, skin may be softer and stretchier than normal, though it typically isn’t as fragile or prone to tearing as in other types of EDS.
5. Fatigue: People with hEDS may feel unusually tired or fatigued, possibly due to the constant joint strain and muscle weakness caused by the hypermobility.
6. Easy Bruising: Like other types of EDS, people with hypermobile EDS may experience easy bruising and slower healing of minor injuries.
7. Proprioception Issues: Some people with hEDS have difficulty sensing the position of their joints in space, a condition called proprioceptive dysfunction, which can cause to more frequent falls and injuries.

What is Ehlers-Danlos Syndrome Type 4 (EDS Type 4)?

Ehlers-Danlos Syndrome Type 4 (EDS Type 4), also known as Vascular Ehlers-Danlos Syndrome (vEDS), is a rare and more severe form of Ehlers-Danlos syndrome. It primarily affects the blood vessels, organs and skin and is characterized by a higher risk of serious complications, such as vascular rupture, organ rupture and arterial problems.

Key Features of EDS Type 4 (Vascular EDS):

1. Fragile Blood Vessels: Most significant feature of vascular EDS is that blood vessels, especially the arteries are fragile and prone to rupture. This can cause to life-threatening bleeding and internal injuries, which can happen even without trauma.
2. Thin, Translucent Skin: People with vEDS often have thin, translucent skin that appears fragile. Skin may be more fragile and prone to bruising but doesn’t have the same degree of hyper-elasticity as in other types of EDS.
3. Easy Bruising: Skin bruises easily due to the fragility of blood vessels near the surface of the skin.
4. Arterial Rupture and Organ Rupture: This condition is most dangerous because of the increased risk of rupture of major blood vessels (such as the aorta) and organ rupture (e.g., the intestines, uterus or kidneys). These ruptures can be fatal if not treated promptly.
5. Joint Hypermobility: While vEDS may involve some degree of joint hypermobility, it is usually not as pronounced as in other types of EDS. Focus of the condition is more on vascular fragility and other systemic complications.
6. Characteristic Facial Features: Some People with vEDS may have certain facial features, such as a thin nose, prominent eyes, small chin and visible veins due to the thin skin.
7. Dental Problems: People with vEDS may have loose teeth or experience early tooth loss because of fragile gums and other connective tissues in the mouth.

What is Signs And Symptoms of Ehlers-Danlos Syndrome?

Signs and symptoms of EDS can change on the specific subtype but here are some common symptoms of EDS :

1. Joint Hypermobility: This is a hallmark of EDS and refers to joints that have an increased range of motion and can easily be moved out of place (dislocated). People with EDS may experience frequent dislocations, subluxations (partial dislocations) and chronic joint pain.
2. Skin Involvement: People with EDS often have skin that is easily bruised, scars easily and feels velvety to the touch. Skin may also be thin, translucent and prone to tearing.
3. Wound Healing: People with EDS may experience slow wound healing, which can result in atrophic or keloid scarring. They may also be prone to developing pressure ulcers.
4. Cardiovascular Involvement: Some subtypes of EDS are associated with an increased risk of spontaneous rupture of blood vessels or major organs, such as the intestine or uterus is a condition in which the valve in the heart that controls blood flow from the atrium to the ventricle bulges back into the atrium, is also common in some subtypes of EDS.
5. Muscle and Skeletal Involvement: People with EDS may experience muscle weakness, scoliosis (curvature of the spine) and osteoporosis (brittle bones) as a result of the weakened connective tissue. They may also have frequent joint pain and a tendency for joint dislocations.
6. Autonomic Nervous System Involvement: Some people with EDS may experience symptoms such as dizziness, fainting and fluctuations in blood pressure, which can be related to the involvement of the autonomic nervous system.
7. Chronic Pain: People with EDS may experience chronic pain because of hypermobility of joints and the weakness of connective tissue.
8. Chronic Fatigue: Some people with EDS may experience chronic fatigue that is not relieved by rest or sleep.

Symptoms of EDS can vary greatly in severity and presentation even within the same subtype. Some people with EDS may have only mild symptoms, while others may experience significant disability and chronic pain.

What Is Treatment Methods of Ehlers-Danlos Syndrome?

Treatment for Ehlers-Danlos syndrome (EDS) is supportive and focused on managing symptoms. There is no cure for EDS but a variety of treatments can help improve quality of life for people with this condition. Most common treatments EDS:

1. Physical Therapy: Physical therapy can help improve joint stability and muscle strength, reduce pain and prevent dislocations.
2. Pain Management: Pain management techniques, such as over-the-counter or prescription pain relievers can help alleviate joint and muscle pain.
3. Assistive Devices: Assistive devices, such as braces, splints or crutches, can help support weak joints and prevent dislocations.
4. Orthopedic Surgery: In some cases, orthopedic surgery may be necessary for correct joint deformities or instability, relieve chronic pain.
5. Skin Protection: People with EDS should take precautions to protect their skin, such as wearing protective clothing, avoiding sun exposure and avoiding injury. They may also need to avoid certain activities that can lead to excessive skin trauma.
6. Wound Care: Proper wound care including cleaning and dressing wounds, can help prevent infection and promote healing.
7. Medications: Some of medications, such as anticonvulsants, could help manage chronic pain.
8. Psychotherapy: Psychotherapy and counseling can help people with EDS cope with the physical, emotional and social impacts of their condition.
9. Nutrition: Balanced, nutritious diet can help maintain overall health and well-being.

FAQs About Ehlers-Danlos Syndrome (EDS)

1. How is EDS diagnosed?
   • EDS is diagnosed based on a combination of symptoms, family history and genetic testing.
2. Is there a cure for EDS?
   • There is currently no cure for EDS but a variety of treatments can help manage symptoms.
3. What are the treatment options for EDS?
   • Treatment options for EDS include physical therapy, pain management, assistive devices, orthopedic surgery, skin protection, wound care, medications, psychotherapy and nutrition.
4. How does EDS affect quality of life?
   • EDS can affect quality of life in a number of ways, including chronic pain, joint instability, dislocations and difficulty performing daily activities.
5. Can EDS be inherited?
   • EDS is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to each of their children.
6. What is the life expectancy of someone with EDS?
   • Life expectancy of someone with Ehlers-Danlos syndrome (EDS) can change greatly according to the subtype and severity of the condition, as well as the presence of other health conditions. In general people with EDS have a normal life expectancy but they may be at higher risk for certain complications, such as joint dislocations and organ rupture in the case of the more severe subtypes.
7. Can EDS be prevented?
   • EDS cannot be prevented but early diagnosis and proper management of symptoms can help improve quality of life for people with this condition.
8. Is EDS a rare condition?
   • EDS is estimated to affect 1 in 5,000 people.
9. How can people with EDS cope with their condition?
   • People with EDS can cope with their condition by seeking treatment, managing symptoms and seeking support from family and friends. They may also benefit from participating in support groups, practicing relaxation techniques and talking to a mental health professional.
10. Can someone with Ehlers-Danlos Have a Baby?
    • Yes, some people with Ehlers-Danlos syndrome (EDS) can have a baby. But pregnancy and childbirth can be more challenging for women with EDS, especially those with the more severe subtypes, because of the increased risk of complications such as preterm labor, premature rupture of membranes and uterine or vaginal prolapse. In some cases, assisted reproductive technologies, such as in vitro fertilization (IVF), may be recommended for women with EDS.
11. Which celebrities have EDS?
    • Devon Raymond, a Canadian actress / Mayra Rosales, a former largest woman in the world / Kyra Sedgwick, an American actress / Tanya Burr, a British YouTuber and influencer / Gwendoline Christie, a British actress best known for her role in Game of Thrones.
12. Why is EDS more common in females?
    • Exact reason why Ehlers-Danlos syndrome (EDS) is more common in females is not well understood. Some researchers suggest that hormonal factors may play a role, as estrogen is known to affect connective tissue. Others have suggested that the higher prevalence in females may be due to a greater likelihood of seeking medical attention for symptoms or because females may be more likely to be diagnosed because of more visible symptoms. It’s also possible that the higher prevalence of EDS in females may be due to a combination of genetic and environmental factors, like as hormonal imbalances and lifestyle factors.
13. Is Ehlers-Danlos inherited from mother or father?
    • Ehlers-Danlos syndrome (EDS) can be inherited from either parent and is usually caused by a genetic mutation that affects the structure and production of collagen, protein that provides strength and elasticity to connective tissue. Most forms of EDS are inherited in an autosomal dominant pattern, which means that a person has a 50% chance of inheriting the condition from an affected parent. But some forms of EDS are inherited in an autosomal recessive pattern, which means that two copies of the mutated gene (one from each parent) are required for the condition to develop. In these cases, parents of an affected people are usually carriers of the condition but do not show symptoms.
14. Is Ehlers-Danlos get worse with age?
    • Some people with EDS may experience worsening of symptoms with age, while others may not. For example some people with the hypermobility type of EDS may experience increased joint dislocations and chronic pain as they age, while others may not. Those with the classical type of EDS may be at increased risk for hernias and organ ruptures and may also experience skin fragility as they age.
15. How does Ehlers-Danlos affect hair?
    • Ehlers-Danlos syndrome (EDS) can affect the hair in various ways depending on the subtype of EDS and people. Some people with EDS may experience hair that is brittle, fragile and prone to breakage while others may have hair that is excessively curly or straight or that is prone to frizziness. In some cases, EDS may also be associated with alopecia (a condition that causes hair loss) or with hair shaft defects, such as pili torti, which is characterized by twisting and breaking of the hair shaft.

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