Table of ContentsView AllTable of ContentsTypesSelf-ChecksPhysical ExaminationLabs and TestsImagingDifferential Diagnosis
Table of ContentsView All
View All
Table of Contents
Types
Self-Checks
Physical Examination
Labs and Tests
Imaging
Differential Diagnosis
Examples of common connective tissue diseases include:
About 25% of patients with one of the above conditions (or another connective tissue disease like dermatomyositis orSjögren’s disease) will end up developing a secondary connective tissue disease with time. Healthcare providers refer to this as overlap syndrome.
Theresa Chiechi / Verywell
Types of Connective Tissue Diseases
There are more than 200 types of connective tissue diseases. Some of the more common conditions include:
Some individuals experience symptoms of the above conditions but don’t meet the criteria of a specific diagnosis. When this happens, it’s referred to asundifferentiated connective tissue disease.
What is MCTD?Mixed connective tissue disease (MCTD) is an overlap syndrome that encompasses symptoms of lupus, polymyositis, and scleroderma. Because the symptoms are varied and similar to other conditions,it can take several yearsfor a correct diagnosis.
What is MCTD?
Mixed connective tissue disease (MCTD) is an overlap syndrome that encompasses symptoms of lupus, polymyositis, and scleroderma. Because the symptoms are varied and similar to other conditions,it can take several yearsfor a correct diagnosis.
A rheumatologist is trained to officially diagnose autoimmune diseases, but many patients notice the following symptoms before reaching out to their provider:
While it’s crucial to pay attention if your body starts to feel “off,” you should never try to diagnose yourself based on the information you read online or hear from others. Hold off on worrying about a possible diagnosis and meet with your healthcare provider for an evaluation.
Your healthcare provider will look for signs of dry eyes or dry mouth, swollen hands and joints, and limited range of motion among joints. Raynaud’s syndrome is typical for patients with connective tissue diseases, causing patches of the fingers to become noticeably pale and numb in response to the cold or emotional stress. When this happens the skin color may change from white to blue to red.
Skin tightening on the fingers can be a sign of sclerosis. Your practitioner will look for rashes that are characteristic of lupus, as well as thinning hair.
Joint swelling and arthritis pain are some of the most common symptoms. Your practitioner may ask you to do basic motions like lifting your arms above your shoulders, climbing stairs, or getting in and out of a chair to see if you have difficulty with these tasks.
Classic Signs of MCTDMCTD typically leads to inflamed joints and muscles. Swollen fingers with hardened skin and discoloration (known as Raynaud’s syndrome) are a telltale sign of MCTD.Your healthcare provider will also evaluate your lungs for signs of pulmonary hypertension.
Classic Signs of MCTD
MCTD typically leads to inflamed joints and muscles. Swollen fingers with hardened skin and discoloration (known as Raynaud’s syndrome) are a telltale sign of MCTD.Your healthcare provider will also evaluate your lungs for signs of pulmonary hypertension.
You’ll be assessed for fatigue, high blood pressure, fever, abdominal pain, swollen lymph nodes, and kidney function (via blood tests) to check for other common signs of connective tissue disease. A questionnaire to review your family history is also helpful since many autoimmune disorders run in families.
A variety of tests will help pinpoint the cause of your symptoms and find the right diagnosis. Blood and urine tests, tissue biopsies, magnetic resonance imaging (MRI), X-rays, and testing for dry eyes or mouth are some of the ways you can be evaluated for connective tissue diseases.
Sometimes the absence of specific symptoms is most telling. For instance, severe central nervous system and kidney issues are common in patients with lupus but not mixed connective tissue disease.
Initial testing can help your healthcare provider pinpoint the correct diagnosis, but ongoing monitoring is essential to watch for new symptoms. Connective tissue diseases are chronic and require continued care as they progress and change with time.
Genetic Testing
Genetic testing isn’t recommended for most connective tissue diseases, since the role of inheritance hasn’t been established.A general overview of your family history can provide some insight into your likelihood of developing an autoimmune disease, but there are no specific genetic markers to diagnose the condition.
CBC and Inflammatory Markers
Patients with connective tissue disease may show signs of mild anemia (low numbers of oxygen-carrying red blood cells), thrombocytopenia (low numbers of platelets, which assist in blood clotting), and leukopenia (low numbers of infection-fighting white blood cells), which may be detected with acomplete blood count (CBC).
Elevated inflammatory markers, like erythrocyte sedimentation rate (ESR) orC-reactive protein (CRP), are common in any autoimmune disease.
Protein and Antibody Tests
Specific antibodies are primary markers for connective tissue disease. Your blood will be tested for antinuclear antibodies (ANA), antibodies to U1 ribonucleoprotein, anti-DNA antibodies, and Smith antibodies.
Several different types of immunoassays may be used for ANA testing, each with their own advantages and disadvantages. Examples include:
Measuring muscle enzymes, like creatine kinase, aminotransferases, and lactic dehydrogenase, can help detect symptoms of myositis.
Urine Testing
A urine analysis is useful for patients with connective tissue diseases and kidney disease. Elevated protein, red blood cells, or white blood cells may be found in the urine.
Tissue Biopsy
Tissue biopsies can be helpful in diagnosing various connective tissue diseases, including lupus and myositis. Skin changes occur in 80% of lupus patients, and specific characteristics can be attributed to certain variant subtypes of lupus.
For inflammatory myositis, muscle biopsies are required. Microscopic observations, like the thickness and arrangement of collagen fibers, edema within vessel walls, or the presence of certain immune cells, help point to a clearer diagnosis and provide information about the disease stage and progression.
Joint Fluid Analysis
A joint fluid analysis evaluates the synovial fluid for microorganisms, immune cells (like leukocytes), amyloid fragments, fat globules, and other biomarkers to indicate a particular diagnosis.Getting an in-depth look at fluid in the joints helps to differentiate between inflammatory arthritis such as gout or rheumatoid arthritis, osteoarthritis, or septic arthritis due to an infection.
Various imaging modalities such as functional magnetic resonance imaging (fMRI),positron emission tomography (PET scans),computed tomography (CAT scans), orX-rayscan assess tissues underneath the skin to check for the more severe signs of a connective tissue disease, like fluid around the lungs or brain function issues.
For instance, ultrasound imaging with color duplex can give healthcare providers a closer look at the soft tissues of the neck, including cervical lymph nodes and salivary glands.
Are Imaging Tests Necessary?In general, imaging procedures may not be required for an initial diagnosis of connective tissue diseases. However, if you start to experience issues associated with disease progression (like tumor growth, lung conditions, or cognitive trouble), imaging is useful for identifying and treating problems early.
Are Imaging Tests Necessary?
In general, imaging procedures may not be required for an initial diagnosis of connective tissue diseases. However, if you start to experience issues associated with disease progression (like tumor growth, lung conditions, or cognitive trouble), imaging is useful for identifying and treating problems early.
For pediatric patients, imaging is more critical since connective tissue diseases can result in long-term developmental delays. Pediatric specialists may use chest radiography to look at the lungs, barium swallow tests for the esophagus, echocardiography to estimate arterial pressure in the lungs, and renal ultrasound for kidney function.
Many of the characteristics associated with connective tissue disorders are also found with injuries or other physical and mental health conditions.
For instance, just because you have pain, fatigue, skin changes, swelling, or memory issues doesn’t necessarily mean you have an autoimmune disorder. It’s possible that fibromyalgia, allergies, stress injuries, or even depression could be causing your symptoms.
To diagnose a connective tissue disease, your healthcare provider will need to review a variety of factors. You never want to assume the worst when trying to figure out why you’re not feeling your best. Instead, seek the help of a qualified professional to guide you toward a proper diagnosis and treatment plan to regain control of your health.
14 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cleveland Clinic.Connective tissue diseases.Cleveland Clinic.Mixed connective tissue disease.Arthritis Foundation.Mixed connective tissue disease.Johns Hopkins Medicine.Raynaud’s phenomenon.Cleveland Clinic.Raynaud’s syndrome.NIH National Center for Advancing Translational Sciences.Mixed connective tissue disease.Tebo AE.Connective tissue diseases - systemic autoimmune rheumatic diseases. ARUP Consult.Nevares AM.Mixed connective tissue disease (MCTD). Merck Manual Consumer Version.Volochayev R, Csako G, Wesley R, Rider LG, Miller FW.Laboratory test abnormalities are common in polymyositis and dermatomyositis and differ among clinical and demographic groups.Open Rheumatol J. 2012;6:54-63. doi:10.2174/1874312901206010054Firulescu SC, Tudoraşcu DR, Pârvănescu CD, et al.The role of skin and muscle biopsy in the diagnosis of main connective tissue diseases.Rom J Morphol Embryol. 2018;59(1):55-64.Villa-Forte A.Evaluation of the patient with joint symptoms. Merck Manual Professional Version.Abdel Razek AA.Imaging of connective tissue diseases of the head and neck.Neuroradiol J. 2016;29(3):222-230. doi:10.1177/1971400916639605Jung LK. Medscape.Pediatric mixed connective tissue disease workup: laboratory studies, imaging studies, other tests.NIH National Institute of Mental Health.Depression.
14 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cleveland Clinic.Connective tissue diseases.Cleveland Clinic.Mixed connective tissue disease.Arthritis Foundation.Mixed connective tissue disease.Johns Hopkins Medicine.Raynaud’s phenomenon.Cleveland Clinic.Raynaud’s syndrome.NIH National Center for Advancing Translational Sciences.Mixed connective tissue disease.Tebo AE.Connective tissue diseases - systemic autoimmune rheumatic diseases. ARUP Consult.Nevares AM.Mixed connective tissue disease (MCTD). Merck Manual Consumer Version.Volochayev R, Csako G, Wesley R, Rider LG, Miller FW.Laboratory test abnormalities are common in polymyositis and dermatomyositis and differ among clinical and demographic groups.Open Rheumatol J. 2012;6:54-63. doi:10.2174/1874312901206010054Firulescu SC, Tudoraşcu DR, Pârvănescu CD, et al.The role of skin and muscle biopsy in the diagnosis of main connective tissue diseases.Rom J Morphol Embryol. 2018;59(1):55-64.Villa-Forte A.Evaluation of the patient with joint symptoms. Merck Manual Professional Version.Abdel Razek AA.Imaging of connective tissue diseases of the head and neck.Neuroradiol J. 2016;29(3):222-230. doi:10.1177/1971400916639605Jung LK. Medscape.Pediatric mixed connective tissue disease workup: laboratory studies, imaging studies, other tests.NIH National Institute of Mental Health.Depression.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Cleveland Clinic.Connective tissue diseases.Cleveland Clinic.Mixed connective tissue disease.Arthritis Foundation.Mixed connective tissue disease.Johns Hopkins Medicine.Raynaud’s phenomenon.Cleveland Clinic.Raynaud’s syndrome.NIH National Center for Advancing Translational Sciences.Mixed connective tissue disease.Tebo AE.Connective tissue diseases - systemic autoimmune rheumatic diseases. ARUP Consult.Nevares AM.Mixed connective tissue disease (MCTD). Merck Manual Consumer Version.Volochayev R, Csako G, Wesley R, Rider LG, Miller FW.Laboratory test abnormalities are common in polymyositis and dermatomyositis and differ among clinical and demographic groups.Open Rheumatol J. 2012;6:54-63. doi:10.2174/1874312901206010054Firulescu SC, Tudoraşcu DR, Pârvănescu CD, et al.The role of skin and muscle biopsy in the diagnosis of main connective tissue diseases.Rom J Morphol Embryol. 2018;59(1):55-64.Villa-Forte A.Evaluation of the patient with joint symptoms. Merck Manual Professional Version.Abdel Razek AA.Imaging of connective tissue diseases of the head and neck.Neuroradiol J. 2016;29(3):222-230. doi:10.1177/1971400916639605Jung LK. Medscape.Pediatric mixed connective tissue disease workup: laboratory studies, imaging studies, other tests.NIH National Institute of Mental Health.Depression.
Cleveland Clinic.Connective tissue diseases.
Cleveland Clinic.Mixed connective tissue disease.
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Johns Hopkins Medicine.Raynaud’s phenomenon.
Cleveland Clinic.Raynaud’s syndrome.
NIH National Center for Advancing Translational Sciences.Mixed connective tissue disease.
Tebo AE.Connective tissue diseases - systemic autoimmune rheumatic diseases. ARUP Consult.
Nevares AM.Mixed connective tissue disease (MCTD). Merck Manual Consumer Version.
Volochayev R, Csako G, Wesley R, Rider LG, Miller FW.Laboratory test abnormalities are common in polymyositis and dermatomyositis and differ among clinical and demographic groups.Open Rheumatol J. 2012;6:54-63. doi:10.2174/1874312901206010054
Firulescu SC, Tudoraşcu DR, Pârvănescu CD, et al.The role of skin and muscle biopsy in the diagnosis of main connective tissue diseases.Rom J Morphol Embryol. 2018;59(1):55-64.
Villa-Forte A.Evaluation of the patient with joint symptoms. Merck Manual Professional Version.
Abdel Razek AA.Imaging of connective tissue diseases of the head and neck.Neuroradiol J. 2016;29(3):222-230. doi:10.1177/1971400916639605
Jung LK. Medscape.Pediatric mixed connective tissue disease workup: laboratory studies, imaging studies, other tests.
NIH National Institute of Mental Health.Depression.
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