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 of rheumatoid arthritis include painful breathing, shortness of breath, weakness, fatigue, chronic cough, anemia, loss of appetite and fever.
• Polymyositis presents with symptoms such as fatigue, muscle weakness, weight loss, shortness of breath and difficulty in swallowing food [7].
• Symptoms of scleroderma include shortness of breath and fatigue.
• Wegener’s granulomatosis is characterized by shortness of breath, nose bleeds and runny nose.
• Symptoms for systemic lupus erythematosus include mouth ulcers, anemia, hair loss, accumulation of fluid around the heart, poor concentration, memory problems, kidney disorders, sensitivity to light and development of butterfly–shaped rash on the cheeks and nose.

• Pain

  A high index of suspicion is needed for the diagnosis, especially in SLE and RA patients with prolonged hip pain not responding to immunosuppressive. [ncbi.nlm.nih.gov]

  Prescription pain medicine may be given. Ask your healthcare provider how to take this medicine safely. Some prescription pain medicines contain acetaminophen. [drugs.com]

  Frequently, early signs include joint pain. Osteogenesis imperfecta (OI) Osteogenesis imperfecta is also known as brittle bone disease. [ortho-institute.org]

  For some patients, pain management may be needed. [cedars-sinai.edu]

  Last updated: 12 / 10 / 19 Systemic connective tissue disorders are rheumatic diseases with joint and muscle pain. Women are most often affected. [bindevevssykdommer.no]

• Inflammation

  Inflammation of the heart and lungs—sometimes associated with MCTD—can lead to serious complications. The inflammation should be treated right away to avoid long-term damage. Researchers have not yet discovered a cure for this disorder. [rileychildrens.org]

  Alport syndrome is characterized by non-infectious kidney inflammation (glomerulonephritis) and hearing loss. [bindevevssykdommer.no]

  Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).[1] Diseases in which inflammation or weakness of collagen [en.wikipedia.org]

  Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases. [medicinenet.com]

  The most serious symptoms are related to inflammation around the lungs. [cedars-sinai.edu]

• Fever

  Medical Definition of connective tissue disease : any of various diseases or abnormal states (as scleroderma, systemic lupus erythematosus, polyarteritis nodosa, rheumatic fever, and dermatomyositis) characterized by inflammatory or degenerative changes [merriam-webster.com]

  NSAIDs, such as ibuprofen, help decrease swelling, pain, and fever. This medicine is available with or without a doctor's order. NSAIDs can cause stomach bleeding or kidney problems in certain people. [drugs.com]

  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]

  Other symptoms may include: Fatigue Anemia Fever Loss of appetite RA can lead to permanent joint damage and deformity. Scleroderma. [webmd.com]

  Read more on Australian Prescriber website Prescribing for people with acute rheumatic fever | Issue 2 | Volume 40 | Australian Prescriber | Australian Prescriber Check out the recent changes in Australian recommendations for antibiotic use, aspirin dose [healthdirect.gov.au]

• Swelling

  NSAIDs, such as ibuprofen, help decrease swelling, pain, and fever. This medicine is available with or without a doctor's order. NSAIDs can cause stomach bleeding or kidney problems in certain people. [drugs.com]

  RA can cause pain, swelling, stiffness, limited motion, or impaired joint function. Scleroderma Like rheumatoid arthritis, scleroderma is also an autoimmune condition. [ortho-institute.org]

  A 44-year-old Caucasian woman presented to our pulmonology department with dyspnea, Raynaud's phenomenon and subtle swelling of fingers and eyelids. Laboratory analysis and autoantibody screening was negative. [ncbi.nlm.nih.gov]

  This results in inflammation (swelling) and tissue damage. Pediatric MCTD occurs in children under the age of 16. MCTD is three times more frequent in girls than boys. We do not know the cause of MCTD. [cincinnatichildrens.org]

  Mainstay of treatment is supportive including airway protection, control of swelling, pain relief and prevention of secondary infection. Patient should be reassured for the alarming swelling and pain. [dentalreach.today]

• Disability

  […] reported Treatment: None needed D-glyceric aciduria (220120) D-glycerate kinase Not determined Biochemical profile: Elevated urinary D-glyceric acid Clinical features: Chronic acidosis, hypotonia, seizures, intellectual disability Treatment: Bicarbonate [merck.com]

  High-dose corticosteroids and methotrexate were given with little improvement, maintaining disabling dysphagia leading to a percutaneous endoscopic gastrostomy tube placement. [ncbi.nlm.nih.gov]

  Please enable JS and disable any ad blocker [pokemoncenter.com]

• Exertional Dyspnea

  dyspnea suggests the possibility of occurrence of pulmonary artery hypertension. sv Större blödningar observerades hos #, # % av patienterna i gruppen som fick fondaparinux och hos en In pulmonary arterial hypertension patients, there may be a potential [sv.glosbe.com]

  MCTD in a 14-year-old boy with pain and swelling of the carpus, Raynaud phenomenon, asthenia, and exertional dyspnea for 2 months. [pubs.rsna.org]

• Abdominal Pain

  You may develop abdominal pain and problems with digesting food. Anemia. About 75 percent of people with mixed connective tissue disease have iron deficiency anemia. Tissue death (necrosis). [mayoclinic.org]

  Other symptoms may include fever, swollen lymph nodes, and abdominal pain. Blood tests Sometimes other tests Doctors suspect mixed connective tissue disease when symptoms of lupus, systemic sclerosis, and polymyositis overlap. [msdmanuals.com]

  Global impairment of left ventricular function is seen in such patients irrespective of pulmonary hypertension.[14] Barium swallow, abdominal ultrasound and/or CT scan may be necessary if the presentation is abdominal pain, to rule out serositis, pancreatitis [patient.info]

  […] with no apparent cause, joint fever, Raynaud phenomenon, severe polymyositis, intense arthritis, aseptic meningitis, myelitis, gangrene, abdominal pain, neuropathy, hearing loss. 69. http://my.clevelandclinic.org/health/diseases_conditions/hic_Mixed_Connective_Tissue_Disease [slideshare.net]

• Nausea

  • Gastrointestinal (e.g., nausea, dyspepsia, abdominal pain). • Cardiac (e.g., pericarditis, myocarditis). • Hematologic (e.g., cytopenias such as leukopenia, lymphopenia, anemia, or thrombocytopenia). 26. [slideshare.net]

• Vomiting

  You are vomiting blood. You have a high fever. When should I seek immediate care? You lose feeling in your hands or feet. You lose feeling on one side of your body. You have sudden pain in your eyes and vision problems. [drugs.com]

• Hypertension

  Pulmonary hypertension (PHTN) can be seen in patients with connective tissue disease (CTD). The typical pathology associated with CTD is interstitial fibrosis and hypertensive pulmonary arteriopathy. [ncbi.nlm.nih.gov]

  Pulmonary Hypertension The differential diagnosis of pulmonary hypertension in CTD consists of pulmonary hypertension caused by myocardial involvement, pulmonary veno-occlusive disorder, pulmonary hypertension due to interstitial lung disease, chronic [ecrjournal.com]

  Echocardiogram may be required to rule out effusion, pulmonary hypertension or valvular disease. Global impairment of right ventricular function is seen in MCTD patients with pulmonary hypertension. [patient.info]

  Chest Xray may show pleural thickening and fibrosis and signs of pulmonary hypertension. Echocardiogram may reveal pericarditis and pulmonary hypertension. Abnormal oesophageal motility may also be detected on imaging. [dermnetnz.org]

• Bleeding Gums

  Depending on the specific form of EDS, other symptoms may include: A curved spine Weak blood vessels Bleeding gums Problems with the lungs, heart valves, or digestion Epidermolysis bullosa (EB). [webmd.com]

• Ulcer

  Trendelenburg Reviews | 25 February 2020 Raynaud phenomenon and digital ulcers are some of the most common and difficult to treat manifestations of systemic sclerosis. [nature.com]

  She reported extreme fatigue and exhaustion, recent onset of mouth ulcers, worsening RP and menorrhagia, with no rashes. [oatext.com]

  Systemic Lupus Erythematosus (Oral Ulcers) A 30-year-old male with systemic lupus erythematosus presented a palatal ulcer typical for lupus. http://www.tannlegetidende.no/image/2015/F15-02-008.jpg 31. [slideshare.net]

  Symptoms include: Shortness of breath, painful breathing, or difficulty breathing Chronic cough Weakness and fatigue Nosebleeds Bloody phlegm Rashes Mouth ulcers Anemia Difficulty concentrating Diagnosis of Connective Tissue Disease associated ILD An [pennmedicine.org]

  Characteristic symptoms of undifferentiated connective tissue disease include arthritis, arthralgia, Raynaud's phenomenon, leukopenia (low white blood cell count), rashes, alopecia, oral ulcers, dry eyes, dry mouth, low-grade fever, and photosensitivity [verywellhealth.com]

• Skin Ulcer

  ulcers, frequent infections, dysmorphic features, immunodeficiency, intellectual disability, chronic lung disease Treatment: Proline supplement, Mn++ and ascorbic acid, essential amino acids, blood transfusion (packed RBC), topical proline and glycine [merck.com]

  ulcers,10 and for using cardiovascular MR.11 Unmet needs This is the first review providing an overview of currently available CPGs for MCTD. [rmdopen.bmj.com]

  अन्य त्वचा keratosis / hyperkeratosis ( Seborrheic keratosis, Callus )· other epidermal thickening ( Ichthyosis acquisita, Palmoplantar keratoderma ) skin ulcer ( Pyoderma gangrenosum, Bedsore ) Cutaneous Markers of Internal Malignancy ( Florid cutaneous [helpebookhindi.wikifoundry.com]

  Occasionally, skin ulcerations due to underlying calcified lesions may lead to nonhealing sores. Figure 10a. JDM in an 11-year-old girl with calcinosis. [pubs.rsna.org]

  Clinically, these patients also present with hand swelling, skin ulceration, panniculitis, and palmar papules ( 219 ). Serum level of AAb is correlated with disease activity, and it disappears with its remission ( 223, 224 ). [frontiersin.org]

• Blister

  People with EB have skin that is so fragile that it tears or blisters as a result of a minor bump, stumble, or even friction from clothing. Some forms of EB may involve the digestive tract, the respiratory tract, the muscles, or the bladder. [webmd.com]

  Symptoms may be mild or severe, and may come and go: Fever or fatigue Skin rash or thickening, blisters, or sensitivity to sunlight Rash on your cheeks that goes across your nose Joint pain, swelling, or warmth Deformed joints, or limited range of motion [drugs.com]

  He further developed well demarcated, blistering, erythematous eruptions on the thighs and arms, confirmed to be erythema Multiforme on biopsy. The skin lesions settled down after a short course of oral steroids. [oatext.com]

• Arthritis

  Other known aetiologies include connective tissue diseases, alcohol, fat embolism, juvenile arthritis and pregnancy. Connective tissue disease (CTD) are uncommonly reported among Nigerians. [ncbi.nlm.nih.gov]

  It can occur alone or with rheumatoid arthritis, scleroderma, or systemic lupus erythematosus. [en.wikipedia.org]

  Arthritis Today magazine -- Search for more information or visit Your Arthritis Store to subscribe on-line! Your Arthritis Store -- books, newsletters, Arthritis Foundation membership, videos and more. [web.archive.org]

  Laryngeal involvement in rheumatoid arthritis: a clinical, laryngoscopic, and computerized tomographic study. Arthritis Rheum 1984;27:873-82. 11. Lofgren RH, Montgomery WW. Incidence of laryngeal involvement in rheumatoid arthritis. [jkslp.org]

  Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. [metrohealth.org]

• Arthralgia

  Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. [ncbi.nlm.nih.gov]

  The most characteristic symptoms of UCTD present in the form of arthralgias, arthritis and Raynaud's phenomenon. The definite classification criteria to identify UCTD are not yet available. [go.gale.com]

  Common clinical signs include Raynaud's phenomenon (see this term), arthralgia/arthritis, swollen hands/puffy fingers, sclerodactyly, and myositis. [orpha.net]

  In children, Raynaud's phenomenon, fatigue and pain (myalgia and arthralgia) are important presenting symptoms. [patient.info]

• Headache

  Our case suggested that HCP should be considered in the differential diagnosis of headache in a patient with UCTD presenting with scleritis. [ncbi.nlm.nih.gov]

  This can cause a wide range of symptoms, from headaches and fatigue to swelling and hair loss. Frequently, early signs include joint pain. Osteogenesis imperfecta (OI) Osteogenesis imperfecta is also known as brittle bone disease. [ortho-institute.org]

  Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency Kidney disease Neurologic abnormalities (in about 10 percent of people with MCTD) such as blood vessel narrowing causing "vascular" headaches [rarediseases.info.nih.gov]

  Juvenile SLE often is associated with a variety of neuropsychiatric manifestations, headache being the most common concern. [pubs.rsna.org]

  Symptom Number (%), Central nervous system 20 (18)  Seizure 4 (3.6)  Headache 9 (8.1)  Neuropathy 10 (9)  Meningitis 3 (2.7) Cardiovascular system 13 (11.3)  Myocarditis 2 (1.8)  Pericardial effusion 9 (8.1)  Cor pulmonale 1 (0.9)  Left ventricular failure [hindawi.com]

• Vertigo

  A case of relapsing polychondritis accompanyning hearing disturbance and vertigo. Korean J Otolaryngol 1993;36:134-8. 2) Kim YM, Lee SC, Lee JY, Lee JS. A case of relapsing polychondritis. [kjorl.org]

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.

Complications

The following are the complications associated with connective tissue diseases:

• Lung infections
• Respiratory complications 
• Kidney failure
• Stroke
• Myocardial infarction
• Heart 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].

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 erythematosus, scleroderma, Marfan syndrome, Ehlers Danlos syndrome and osteogenesis imperfecta.

Definition

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.

Cause

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.

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.

Diagnosis

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

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.