Connective tissue provides the framework and support for tissues throughout the body, including bones, muscles, blood vessels, and organs. It consists of a variety of proteins, such as collagen and elastin, which give the tissue its strength and flexibility.

Diseases that affect the function or structure of connective tissue are known as connective tissue diseases. There are more than 200 of these conditions, including genetic disorders such as Ehlers-Danlos syndrome, autoimmune disorders such as scleroderma, and cancers such as soft tissue sarcomas.

When something goes wrong with this vital tissue, it can have a ripple effect throughout the body. It may cause a wide range of symptoms, including fatigue, joint pain, muscle weakness, and skin rashes.

Continue reading to learn more about the different types of connective tissue diseases and their symptoms.

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Connective tissue diseases are diseases that affect the function or structure of connective tissue.

The job of connective tissue is to provide support and structure for other tissues and organs in the body, including:

  • bone
  • cartilage
  • fat
  • blood
  • lymphatic tissue
  • tendons and ligaments

It is also involved in fat storage, nutrient movement, and tissue repair.

Connective tissue consists of a variety of proteins and fibers, such as collagen and elastin, which give this tissue its strength and flexibility. Many diseases can cause problems with this type of tissue.

Inherited connective tissue diseases occur as a result of genetics. Genes tell the body how to make proteins, including the ones that make up connective tissue.

If a person inherits a gene that tells their body to make these proteins in an atypical way, the person may have a connective tissue disease from birth. Sometimes, a gene may change during or after pregnancy, resulting in a child having a sporadic genetic connective tissue disease when no family history of the condition exists.

Here are some examples of inherited connective tissue disorders:

Ehlers-Danlos syndrome (EDS)

EDS occurs because of an error in a gene that encodes collagen. It has 13 variants, but all cause:

  • skin hyperelasticity or stretchiness
  • highly flexible joints
  • indented scarring
  • frail blood vessels

Symptom severity can range from minor to severe enough to affect a person’s quality of life.

There is no cure for EDS, so treatment aims to prevent disease progression and complications. It typically involves close monitoring by a relevant specialist and injury prevention.

Marfan syndrome

Marfan syndrome arises from a change in a gene that codes for the protein fibrillin, which is a key component of connective tissue.

People with Marfan syndrome tend to be tall and slender with long limbs, fingers, and toes. They may also have:

  • a breastbone that protrudes or sinks inward
  • overly flexible joints
  • loose skin

People with Marfan syndrome may be more prone to aortic aneurysms. These are bulges in the wall of the main artery that carries blood from the heart. They can cause chest or back pain and, if they rupture, are life threatening.

Marfan syndrome has no cure, but treatments can help people manage symptoms. Treatment may include surgery to repair or replace a damaged aorta.

Stickler syndrome

Stickler syndrome is an autosomal dominant disorder, which means a person needs only one altered gene to develop the condition. It affects the function of collagen.

Stickler syndrome causes problems with the eyes, mouth, ears, heart, and skeleton. As a result, a person may develop premature osteoarthritis, retinal degeneration, and hearing loss.

A characteristic feature of Stickler syndrome is a flat face due to underdeveloped bones in the cheekbones and the bridge of the nose. A person may also have a cleft palate. Treatment can help address some of the physical effects.

Sometimes, a person’s immune system attacks their healthy cells and tissues. This is an autoimmune reaction. In autoimmune connective tissue diseases, the immune system attacks healthy connective tissue, causing inflammation and damage.

These conditions are often chronic and may cause flare-ups followed by periods of remission. If a person has symptoms of more than one of these conditions, they may have mixed connective tissue disease.

The following are some examples of autoimmune connective tissue diseases:

Rheumatoid arthritis (RA)

RA is a chronic inflammatory disorder that typically affects the joints. However, it can also damage other tissues and organs, including the skin, eyes, lungs, and heart.

Symptoms include:

  • joint pain and swelling
  • stiffness
  • loss of range of motion
  • fatigue
  • fever
  • rashes
  • dry eyes

Treatment may involve a combination of medications, such as disease-modifying antirheumatic drugs, and lifestyle strategies. The goal is to relieve symptoms, prevent disease progression, and improve quality of life.


Scleroderma causes hardening and thickening of the skin. It can also damage blood vessels, joints, and internal organs. Symptoms may include:

Treatment focuses on relieving symptoms and preventing complications. It may include taking calcium channel blockers for Raynaud’s disease and corticosteroids to reduce inflammation.

In people with inherited connective tissue disease, genetics are the main cause. For autoimmune connective tissue disease, a family history of autoimmune disorders is also a risk factor.

Additionally, scientists have linked the following factors to a higher risk of autoimmune connective tissue disease:

  • female sex
  • cigarette smoking
  • other preexisting autoimmune disorders
  • exposure to certain chemicals
  • certain medications
  • obesity

There is no cure for connective tissue disease, but treatments can help people manage symptoms, prevent complications, and improve quality of life.

People can take proactive steps to look after their health by:

  • scheduling regular checkups with a doctor
  • going to screenings to monitor for signs of complications
  • setting up deliveries for prescription medications so they do not run out

People living with connective tissue disease may also benefit from:

  • eating a healthy, balanced diet
  • maintaining a moderate weight
  • getting regular exercise
  • making time for relaxation and looking for ways to reduce stress
  • avoiding or quitting smoking
  • protecting their hands and feet from the cold

People with some connective tissue diseases may need to avoid certain activities in order to prevent damage to fragile skin or hypermobile joints. For example, playing competitive sports may increase the risk of joint dislocations. A doctor can advise each person on the best types and intensity of exercise for their specific condition.

Chronic illness can be challenging to manage and can affect mental health. If a person feels persistently anxious or low, they should seek support and mental health treatment to help them cope. A doctor or therapist can help with this.

Connective tissue diseases are a group of conditions that affect the connective tissue in the body. Connective tissue provides support and structure to organs, muscles, blood vessels, skin, and bones.

Inherited connective tissue diseases, which occur as a result of genetic changes, include conditions such as Marfan syndrome and EDS. Autoimmune connective tissue diseases, which occur when the immune system attacks healthy cells and tissues, include RA and scleroderma.

There are many more types of connective tissue disease. If a person is concerned that they may have one, they should consult a doctor for a diagnosis. The earlier a person receives a diagnosis, the sooner they can get treatment that may help improve their quality of life.