Connective Tissue Disorders

Medically Reviewed By William C. Lloyd III, MD, FACS
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What is connective tissue disorders?

Connective tissues are groups of fibers and cells that “connect” the framework of the body and literally hold it together. Their functions include cushioning, protecting, supporting, insulating and strengthening the body’s tissues and organs. Examples of connective tissue are tendons, ligaments, cartilage, blood, bone, and the dermis of the skin. Because connective tissues exist in so many structures of the body, disorders of these tissues may involve a variety of symptoms, including pain and dysfunction in different areas of the body.

Connective tissue disorders are common, affecting approximately 500,000 in the United States alone. There are no significant differences in incidence among ethnic or age groups or between males and females. More than 200 types of heritable (passed from parents to their children) connective tissue disorders exist. Examples of heritable connective tissue disorders are Marfan’s syndrome and Ehlers-Danlos syndrome (Source: NIAMS).

Some connective tissue disorders are the result of a dysfunction in the immune system, in which the immune system mistakenly targets connective tissue cells, resulting in inflammation. This type of connective tissue disorder is also an autoimmune disorder and includes such diseases as dermatomyositis (a condition characterized by muscle inflammation and skin rash), polymyositis (uncommon condition characterized by widespread muscle inflammation and weakness), rheumatoid arthritis (inflammation of the blood vessels, which can lead to atherosclerosis, stroke, heart attack, and other cardiac conditions), scleroderma, and systemic lupus erythematosus (disorder in which the body attacks its own healthy cells and tissues).

Connective tissue disorders can sometimes have serious complications. Seek immediate medical care (call 911) for serious symptoms, such as sweating and difficulty breathing, which may be combined with pale or blue lips, rapid heart rate (tachycardia), chest pain or pressure, obvious dislocation or deformity of a joint, vomiting blood, or high fever (higher than 101 degrees Fahrenheit).

Seek prompt medical care if you are being treated for connective tissue disorders but mild symptoms recur or are persistent.

What are the symptoms of connective tissue disorders?

The symptoms of connective tissue disorders vary depending on the tissue involved. Not all people with connective tissue disorders have symptoms, and the severity and type of symptoms vary among individuals. If a connective tissue disorder is heritable, you may not show symptoms until middle age, although in some conditions it is possible for symptoms to appear soon after birth.

Connective tissue disorders cause inflammation of the bone, fat, cartilage, tendons, ligaments and skin, which may result in a number of symptoms. The symptoms can vary in intensity among individuals and may occur daily or only occasionally. However, at any time, symptoms may become severe.

Bone and joint symptoms of connective tissue disorders

You may experience connective tissue disorders symptoms daily or only occasionally. At times, any of these bone and joint symptoms can be severe:

  • Joint swelling, redness or pain
  • Loose joints
  • Problems with growth
  • Tight joints

Skin symptoms of connective tissue disorders

You may experience skin symptoms of connective tissue disorders daily or only occasionally. At times, any of these symptoms can be severe:

  • Rash
  • Scarring
  • Skin blisters
  • Skin discoloration such as bruising
  • Skin that is too loose, folds, or stretches excessively

Other symptoms of connective tissue disorders

You may experience other connective tissue disorders symptoms daily or only occasionally. At times, any of these symptoms can be severe:

  • Fatigue
  • Fever
  • Malaise or lethargy
  • Muscle pain and stiffness
  • Reduced blood circulation in fingers and toes
  • Swelling of hands and fingers

Serious symptoms that might indicate a life-threatening condition

In some cases, connective tissue disorders can be life threatening. Seek immediate medical care (call 911) if you, or someone you are with, have any of these life-threatening symptoms including:

  • Chest pain or pressure
  • Difficulty breathing
  • High fever (higher than 101 degrees Fahrenheit)
  • Obvious dislocation or deformity of a joint
  • Rapid heart rate (tachycardia)
  • Sweating without exertion
  • Vomiting blood

What causes connective tissue disorders?

Connective tissue disorders are caused by multiple factors, including injury, genetics or infection. However, there are some connective tissue disorders for which the cause is not known. The most common connective tissue disorders are caused by injury due to inflammation. Heritable connective tissue disorders are less common and include Marfan’s syndrome and Ehlers-Danlos syndrome. Autoimmune disorders of the connective tissue include such diseases as dermatomyositis (a condition characterized by muscle inflammation and skin rash), polymyositis (uncommon condition characterized by widespread muscle inflammation and weakness), rheumatoid arthritis (inflammation of the blood vessels, which can lead to atherosclerosis, stroke, heart attack, and other cardiac conditions), scleroderma, and systemic lupus erythematosus (disorder in which the body attacks its own healthy cells and tissues).

What are the risk factors for connective tissue disorders?

A number of factors increase the risk of developing connective tissue disorders. Not all people with risk factors will get connective tissue disorders. Risk factors include:

  • Family history of connective tissue disorders
  • Infection
  • Injury or trauma
  • Low vitamin C consumption

How are connective tissue disorders treated?

Treatment for connective tissue disorders begins with seeking medical care from your health care provider. To determine whether you have connective tissue disorders you will be asked questions about your symptoms and when they occur. You may also be asked to undergo diagnostic testing.

Connective tissue disorders require specific regimens to treat and manage symptoms. Due to the inflammatory characteristic of these disorders, anti-inflammatory medications are the most common form of treatment for relieving swelling, redness and pain. The exact choice of medications depends upon the type of connective tissue disorder that is present and the overall health of the individual.

Other treatments include specific medicines that target the affected connective tissue, such as cardiac drugs for improving heart function in people with Marfan’s syndrome and vitamin C for the connective tissue disorder scurvy.

Overall, treatment should include a lifestyle plan to optimize health and reduce symptoms. A well-balanced nutritional plan, regular physical activity, and routine testing to monitor the progress of disease are all important treatment options for people with connective tissue disorders.

What you can do to improve your connective tissue disorders

In addition to following your health care provider’s instructions and taking all medication as prescribed, you can improve your symptoms by:

  • Ensuring adequate hydration by drinking plenty of water and fluids
  • Following a balanced nutrition plan
  • Getting plenty of rest
  • Having routine follow-up appointments with your health care provider
  • Maintaining a healthy body weight

What are the potential complications of connective tissue disorders?

You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you. Complications of connective tissue disorders include:

  • Difficulty performing daily tasks
  • Dry eyes
  • Dry mouth
  • Gastrointestinal problems
  • Headache
  • Hearing loss
  • Increased pain and dysfunction
  • Joint deformity and destruction
  • Neurologic problems (nerve palsy)
  • Pericarditis
  • Pulmonary vasculitis and effusions
  • Severe discomfort or pain
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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2021 Jan 9
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
  1. Connective tissue disorders. Medline Plus, a service of the National Library of Medicine National Institutes of Health. http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html
  2. Connective tissue. NIAMS National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp
  3. Mosca M, Tani C, Neri C, et al. Undifferentiated connective tissue diseases (UCTD). Autoimmun Rev 2006; 6:1