Ehlers-Danlos Syndrome Symptoms

Ehlers-Danlos syndrome is caused by a defect in collagen, proteins that add flexibility and strength to connective tissue.

It affects people of all ages and ethnicities. It can be inherited in a dominant or recessive pattern.

Skin

The skin is the body’s biggest organ, with three layers. The outermost layer is the epidermis, which has many keratinocytes, or “skin cells.” These are complex, shiny cells that make up the surface of your skin and act as a barrier against viruses, bacteria, parasites, heat, cold, water loss, and ultraviolet rays.

The epidermis constantly works to replace many old cells, which are then shed. Around 500 million dead skin cells are removed from the skin’s surface daily. Then, new cells are formed in the lower layers and make their way up to the skin’s surface.

Ehlers-Danlos syndrome (EDS) refers to a collection of uncommon genetic illnesses that disrupt the function of collagen, one of the body’s building blocks. Collagen provides strength and structure for the skin, joints, bones, blood vessels, and organs.

Abnormalities cause these disorders in the genes that make collagen or related proteins. These mutations weaken connective tissues in the skin, joints, blood vessels, and organs, causing some EDS symptoms.

People with hypermobile EDS, called hEDS, often have very loose joints and soft, stretchy skin that can easily break. This type of EDS can lead to serious health complications in severe cases.

Muscles

Ehlers-Danlos syndrome symptoms include chronic pain and discomfort, usually in the joints and muscles. Some people also experience stomach problems and headaches.

EDS is caused by mutations in specific genes needed to produce collagen, a protein that helps strengthen and provide flexibility in the body’s tissues. The abnormally flexible connective tissues in people with EDS can cause joint and muscle problems.

The most common form of EDS is called hypermobility EDS (hEDS). It affects about one in 5,000 to 20,000 people worldwide. It is not known what causes hEDS, but it may be related to a mutation in the COL12A1 gene.

Patients with hEDS tend to have a higher risk of breathing problems, especially nocturnal hypoventilation. As a result, they may need to wear a mask when they breathe or use assisted non-invasive ventilation at night to help them get enough oxygen.

Some people with hEDS have trouble with their heart valves and can have blood clots or lung bleeding. They can also develop severe kyphosis or scoliosis, the curvature of the spine that worsens over time.

Some people with hEDS also have difficulty exercising because their joints are too stiff. They should work with a physical therapist to improve their strength and mobility. They must wear a brace or splint if their joints become weak and prone to dislocations.

Joints

The bones, tendons, and ligaments that comprise joints provide the body structure and stability. Without them, our joints would have no support, and we would be prone to injuries.

In addition, the connective tissues surrounding our joints give them strength and flexibility. They are also responsible for forming normal scar tissue that holds our bodies together after injuries or surgery.

Ehlers-Danlos syndrome (EDS) affects collagen, a protein that gives the connective tissues of your body strength and flexibility. This defect can weaken the connective tissue around your joints and blood vessels.

Weak connective tissue can allow your joints to become more flexible than usual, a condition is known as joint hypermobility. It can also allow your skin to stretch more than usual, a condition called skin hyperextensibility.

People with EDS may experience other symptoms depending on the type of EDS that they have. It can include chronic joint pain and recurring dislocations, tiredness (fatigue), problems with bowel movement, and increased bleeding.

The vascular type of EDS can be particularly severe and lead to life-threatening conditions, including rupturing the walls of your blood vessels or intestines. It can also result in abnormal chest pain or blood pressure issues, known as dysautonomia or autonomic dysfunction.

Nerves

Nerves are cables that carry electrical signals between your brain and the rest of your body. These impulses help you feel sensations, move your muscles and maintain certain autonomic functions, such as blood pressure, breathing, and digestion.

Your nerves are located in your brain and spinal cord and the outer part of your body, called the peripheral nervous system. Peripheral nerves relay information to your brain and spinal cord from every aspect of your body, including your ears, eyes, and skin.

In your brain, your nerves are surrounded by oligodendrocytes; in the rest of your body, they are surrounded by Schwann cells. Both cell types contain fatty tissue called myelin sheaths that help them send electrical signals quickly and safely.

The chemical messages that travel through the axons of your nerves are converted to electrical signals as they move up the length of those same axons to other neuronal cells through a process called a synapse. Once at the tip of the next neuron’s dendrite, these chemical signals are converted back to electrical messages through neurotransmission.

In Ehlers-Danlos syndrome, the myelin sheath that insulates your nerves is weaker than usual. This weakening can make your nerves unable to send electrical signals as quickly or smoothly. In turn, this can cause your symptoms to worsen.