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Disease Profile

Mixed connective tissue disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adolescent

ICD-10

M35.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MCTD; Sharp syndrome

Categories

Connective tissue diseases; Kidney and Urinary Diseases; Lung Diseases;

Summary

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis.[1] Although MCTD can affect people of all ages, it appears to be most common in women under age 30.[2] Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus.[3][1] The cause of MCTD is currently unknown. Treatment may include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immune-suppressing drugs to help manage symptoms.[2]

Symptoms

People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis.[3]

A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common.[3]

Other signs and symptoms may include:[1][3][4]

  • Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema)
  • Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia)
  • Dysfunction of the esophagus (hypomotility)
  • Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension
  • 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; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies)
  • Anemia and leukopenia (in 30 to 40 percent of cases)
  • Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthritis
Joint inflammation
0001369
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Chest pain
0100749
Dyspnea
Trouble breathing
0002094
Elevated erythrocyte sedimentation rate
High ESR
0003565
Fatigue
Tired
Tiredness

[ more ]

0012378
Gastritis
Stomach inflammation
0005263
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Pulmonary fibrosis
0002206
Scleroderma
0100324
Skin rash
0000988
30%-79% of people have these symptoms
Arthralgia
Joint pain
0002829
Fever
0001945
Joint swelling
0001386
Keratoconjunctivitis sicca
Dry eyes
0001097
Myositis
Muscle inflammation
0100614
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Psychosis
0000709
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217
5%-29% of people have these symptoms
Alopecia
Hair loss
0001596
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hemolytic anemia
0001878
Hepatomegaly
Enlarged liver
0002240
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Meningitis
0001287
Myocarditis
Inflammation of heart muscle
0012819
Nephropathy
0000112
Osteolysis
Breakdown of bone
0002797
Pericarditis
Swelling or irritation of membrane around heart
0001701
Peripheral neuropathy
0009830
Prolonged bleeding time
0003010
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Purpura
Red or purple spots on the skin
0000979
Seizure
0001250
Splenomegaly
Increased spleen size
0001744

Cause

The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.[1][3]

Diagnosis

Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.[1][3][6]

Treatment

There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis). Some people with MCTD require long term use of immunosuppressant medications.[1][7]

Additional medications may be prescribed based on the signs and symptoms present in each person. For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended.[2]

For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The Mayo Clinic Web site has an information page on mixed connective tissue disease that can be found at the following link. Click on The Mayo Clinic to view the information page.
        • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            Mixed Connective-Tissue Disease
            Pediatric Mixed Connective Tissue Disease
            Dermatologic Manifestations of Mixed Connective Tissue Disease
          • The Merck Manual for health care professionals provides information on Mixed connective tissue disease.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Mixed connective tissue disease. Click on the link to view a sample search on this topic.

            References

            1. Eric L Greidinger, MD. Mixed Connective-Tissue Disease. Medscape Reference. February 2013; https://emedicine.medscape.com/article/335815-overview.
            2. Mixed Connective Tissue Disease. Mayo Foundation for Medical Education and Research. May 2012; https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/basics/definition/con-20026515?METHOD=print.
            3. Mixed Connective Tissue Disease (MCTD). NORD. October 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/338/viewAbstract.
            4. Robert M Bennett, MD, FRCP, MACR. Clinical manifestations of mixed connective tissue disease. UpToDate. September 2014; Accessed 12/29/2014.
            5. Robert A Schwartz, MD, MPH. Dermatologic Manifestations of Mixed Connective Tissue Disease. Medscape Reference. May 2014; https://emedicine.medscape.com/article/1066445-overview.
            6. Robert M Bennett, MD, FRCP, MACR. Definition and diagnosis of mixed connective tissue disease. UpToDate. October 2014; Accessed 12/29/2014.
            7. Robert M Bennett, MD, FRCP, MACR. Prognosis and treatment of mixed connective tissue disease. UpToDate. December 2013;
            8. Zahir Amoura and Laurent Arnaud. Mixed connective tissue disease. Orphanet. October, 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=809.
            9. Rula A. Hajj-ali. Mixed Connective Tissue Disease (MCTD). Merck Manuals. August, 2013; https://www.merckmanuals.com/home/bone_joint_and_muscle_disorders/autoimmune_disorders_of_connective_tissue/mixed_connective_tissue_disease_mctd.html?qt=&sc=&alt=#top.
            10. Eric L Greidinger, MD. Mixed Connective-Tissue Disease Epidemiology. Medscape Reference. March 25, 2015; https://emedicine.medscape.com/article/335815-overview#a6.

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