Edit concept Question Editor Create issue ticket

Connective Tissue Disease

Other Musculoskelet/Connectiv


The signs and symptoms of connective tissue disease are different for different disease conditions. Symptoms of some of the common connective tissue diseases have been listed below:

  • Symptoms Some of the common symptoms of connective tissue disease include fatigue, fever, muscle weakness, cough, and shortness of breath, muscle aches, joint pain and development of rashes.[symptoma.com]
  • These include fevers , muscle and joint pain and stiffness , weakness, and many other symptoms. Please refer to our articles on each particular disease (see below) for more information about symptoms.[medicinenet.com]
Chronic Cough
  • Symptoms of some of the common connective tissue diseases have been listed below: Symptoms of rheumatoid arthritis include painful breathing, shortness of breath, weakness, fatigue, chronic cough, anemia, loss of appetite and fever.[symptoma.com]
Hyperextensible Joints
  • Aside from drowsiness, other symptoms can be confused with fatigue including shortness of breath with activity and muscle weakness. Again, all these symptoms can occur at the same time.[medicinenet.com]


A careful physical examination for swollen joints of hands and legs is done. In addition, blood tests are carried out to detect the presence of antibodies in the blood using immunoflourescent assays [8] and enzyme linked immuno-absorbent assays (ELISA) [9]. An x-ray examination may also be required to further diagnose the type of the disease condition.


Treatment of connective tissue disease is geared towards managing the symptoms well with medications. Various types of connective tissue disease affect the pulmonary function and therefore, the primary goal of the treatment regime should focus on correcting the breathing problems and normalizing the pulmonary functions. The following are the methods for treating different types of connective tissue diseases:

  • Treatment of rheumatoid arthritis is done through medications that work by suppressing the immune system thereby reducing the inflammation in the lungs.
  • Wegener granulomatosis is treated by antiinflammatory medications and immunesuppressants.
  • Scleroderma is also treated through immunesuppressants. In severe cases, when symptoms turn worse, breathing support may be required. Patients are also advised to exercise regularly to improve the capacity of lungs.
  • Systemic lupus erythematosus is treated through immunesuppressants and the patient is advised bed rest. A constant monitoring is also required to avoid flare-ups of symptoms. Long term use of immunesuppressants and corticosteroids has been associated with increased risk of infections [10].
  • Treatment of polymyositis includes administration of immunesuppressants and physical therapy.


The prognosis of the disease condition largely depends on the type of the disease and its degree of severity. With prompt diagnosis and treatment, onset of complications can be prevented and the disease managed. Individuals with mild symptoms can be successfully treated; however those with life threatening complications require a longer duration of treatment regime.


The following are the complications associated with connective tissue diseases:


The causative factors behind development of connective tissues mainly depend on the type of disorder present. In some cases, the disease can erupt from an inflammatory response, environmental factors, heredity and autoimmune factors. However, the exact cause behind the development of connective tissue diseases is yet to be known. It is thought that interplay of environmental, heredity and genetic factors give rise to such a group of disorders.


The prevalence rate of connective tissue diseases is different for each condition. From the data available for the diseases, the incidence for some of the disease condition has been given below:

  • It has been estimated that systemic lupus erythematosus affects about 15 to 50 per 100,000 individuals. This condition affects more women than men with the female to male ration been 6-10:1 [1].
  • Sjogren syndrome has the highest prevalence affecting 0.5 – 3% of population.
  • Mixed connective tissue diseases are a rare occurrence with limited data available for the incidence rates.
  • Long term longitudinal clinical studies point to pulmonary hypertension as the most common diseases-related cause of death in connective tissue diseases [2].
  • Prevalence rate for mixed connective tissue diseases and undifferentiated connective tissue diseases (UCTD) represents up to 52% of all rheumatology clinic visits [3]. Only 10 to 20% of UCTD can evolve to distinct connective tissue disease [4].
Sex distribution
Age distribution


Connective tissue diseases are a group of disorders that significantly impact the functioning of the connective tissues of the body. The various disease listed in this condition include rheumatoid arthritis, scleroderma, Wegner granulomatosis, Churg-Strauss syndrome, polymyositis and systemic lupus erythematosus.

Connective tissue consists of two major protein collagen and elastin that are known to provide strength and support to body organs. Diseases of the connective tissue cause inflammation of these protein molecules and harm the body parts they are associated with [5]. Such group of disorders is thought to develop as a result of autoimmune response [6], infections and environmental factors.


Development of connective tissue disease cannot be prevented. However, symptoms can be managed pretty well with timely initiation of treatment regime and constant monitoring. Making small lifestyle changes can also assist in preventing the development of complications. Adhering to a healthy lifestyle can go a long way in healthy management of the disease condition.


Connective tissue disease is a group of disorders that affect the connective tissues which are responsible for giving strength and support too many parts of the body. It is a chronic condition that cannot be cured but managed with appropriate treatment regime.

Connective tissue plays many vital roles and primarily carries out the function of binding, supporting and protecting the various organs of the body. Some examples of connective tissue include cartilage and fat. These tissues are made up of two structural proteins namely collagen and elastin. Some of the major diseases of the connective tissues include cellulitis, polymyositis, dermatomyositis, rheumatoid arthritis, systemic lupus erythematosusscleroderma, Marfan syndrome, Ehlers Danlos syndrome and osteogenesis imperfecta.

Patient Information


Connective tissue diseases are a group of disorders affecting the connective tissues of the body such as the skin, muscles, joint and the blood vessels. It is a chronic condition and poses life threatening risks if condition is not managed on time.


The exact cause behind onset of connective tissue disease is not known. However interplay of factors such as heredity, environment, genetic and autoimmune is known to play foul.


Some of the common symptoms of connective tissue disease include fatigue, fever, muscle weakness, cough, and shortness of breath, muscle aches, joint pain and development of rashes.


Diagnosis of connective tissue disease is primarily done through a careful physical examination. In addition blood tests are done to analyze the presence of antibodies in the blood. An x-ray examination may be required in certain cases to examine joint health.


Treatment of connective tissue disease is geared towards effective management of the symptoms. Immunesuppressants medications are administered to suppress the immune system and inhibit the production of antibodies. Antiinflammatory medications may also be required in certain cases to reduce the pain and inflammation.



  1. Gunnarsson R, Molberg O, Gilboe IM, Gran JT. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis. Jun 2011; 70(6):1047-51.
  2. Burdt MA, Hoffman RW, Deutscher SL, et al. Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum. May 1999; 42(5):899-909.
  3. Mosca M, Neri R, Bombardieri S. Undifferentiated connective tissue diseases (UCTD): a review of the literature and a proposal for preliminary classification criteria. Clin Exp Rheumatol. Sep-Oct 1999; 17(5):615-20.
  4. Szodoray P, Nakken B, Barath S, Gaal J, Aleksza M, Zeher M. Progressive divergent shifts in natural and induced T-regulatory cells signify the transition from undifferentiated to definitive connective tissue disease.Int Immunol. Aug 2008; 20(8):971-9.
  5. Cappelli S, Bellando Randone S, Martinovic D, Tamas MM, Pasalic K, Allanore Y, et al. "To Be or Not To Be," Ten Years After: Evidence for Mixed Connective Tissue Disease as a Distinct Entity. Semin Arthritis Rheum. Sep 27 2011;
  6. Sharp GC, Irvin WS, Tan EM, et al. Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. Feb 1972; 52(2):148-59
  7. Szodoray P, Hajas A, Kardos L, et al. Distinct phenotypes in mixed connective tissue disease: subgroups and survival. Lupus. Nov 2012; 21(13):1412-22.
  8. Meroni PL, Schur PH. ANA screening: an old test with new recommendations. Ann Rheum Dis. Aug 2010; 69(8):1420-2.
  9. Tozzoli R, Bizzaro N, Tonutti E, Villalta D, Bassetti D, Manoni F, et al. Guidelines for the laboratory use of autoantibody tests in the diagnosis and monitoring of autoimmune rheumatic diseases. Am J Clin Pathol. Feb 2002; 117(2):316-24
  10. Jais X, Launay D, Yaici A, et al. Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a retrospective analysis of twenty-three cases. Arthritis Rheum. Feb 2008; 58(2):521-31.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2018-06-21 21:32