Materiały źródłowe

• #1 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147

  Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease. […] Mixed connective tissue disease is an autoimmune disorder, although the cause isn’t known. […] Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in the disease remains unclear. […] Mixed connective tissue disease can occur in people of any age. However, it appears to be most common in women under the age of 50. […] Diagnosis treatment

• #2 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease

  MCTD can be difficult for healthcare providers to diagnose because the three conditions (lupus, scleroderma and polymyositis) that combine and cause it usually dont happen at the same time. […] Because they occur one after the other over a long period of time, it may take several years before a provider can make an accurate diagnosis of MCTD. You’ll likely work with a specialist called a rheumatologist in the diagnosis of MCTD. […] There are four features that point to MCTD rather than another connective tissue disorder: High concentrations of an antibody called anti-U1-RNP (ribonucleoprotein) in blood tests […] An absence of severe kidney and central nervous system problems often found in people with lupus […] Severe arthritis and pulmonary hypertension, which may not be found in people with either lupus or scleroderma […] Raynauds phenomenon, swollen hands or puffy fingers, which occur in only about 25% of people with lupus.

• #3 Mixed Connective-Tissue Disease (MCTD) Differential Diagnoses

  https://emedicine.medscape.com/article/335815-differential

  Overlapping criteria for diagnosis of mixed connective tissue disease (MCTD) have been published by Sharp, Alarcn-Segovia, Kasukawa, and Kahn. A 1996 comparison study determined that MCTD was best identified with the Alarcn-Segovia criteria, which have 62.5% sensitivity and 86.2% specificity, and the Kahn criteria. […] The Alarcn-Segovia diagnostic criteria consist of a positive antiU1 RNP titer (1:1600) and at least three of the following five clinical findings: Hand edema, Synovitis, Biologically or histologically proven myositis, Raynaud phenomenon, Acrosclerosis with or without proximal systemic sclerosis. […] A consensus panel in Japan in 2019 offered a revised set of diagnostic criteria for MCTD, which divides the features of the disease into the following four categories: Common manifestations: Raynaud phenomenon, puffy fingers and/or swollen hands; Immunologic manifestation: AntiU1-RNP antibody positivity; Characteristic organ involvement: Pulmonary arterial hypertension, aseptic meningitis, trigeminal neuropathy; Overlapping manifestations: (A) Systemic lupus erythematosus (SLE)like, (B) systemic sclerosislike, (C) polymyositis/dermatomyositis-like.

• #4 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  Mixed connective tissue disease (MCTD) is a systemic autoimmune disease that shares characteristics with at least two other systemic autoimmune diseases, including systemic sclerosis (Ssc), systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), and rheumatoid arthritis. […] Diagnosing MCTD involves identification of inflammatory myopathy that is histologically and clinically identical to polymyositis (PM). […] Because of the vast range of clinical symptoms in MCTD, diagnosis is not often straightforward. […] The most prevalent strategy to diagnosis in clinical practice combines serological criteria with at least three clinical criteria. […] Four commonly accepted criteria for classifying patients with MCTD have been published, the Sharp criteria (1987), the Alarcn-Segovia criteria (1987), the Kasukawa criteria (1987), and the Kahn criteria (1991).

• #5 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  The Sharp criteria require at least four major criteria, as well as anti-U1-RNP antibody titer of at least 1:4000, or two major criteria from criteria 1, 2, and 3, and two minor criteria, plus anti-U1-RNP antibody titer of at least 1:1000. […] The Alarcn-Segovia criteria require serological criteria and at least three clinical criteria including either synovitis or myositis to qualify for a diagnosis of MCTD. […] The Kasukawa criteria require a minimum of one of the common symptoms, a positive anti-RNP antibody, as well as one or more symptoms of the mixed symptoms in at least two of the three disease categories to qualify for a diagnosis of MCTD. […] The Kahn criteria require serological criteria in addition to Raynaud’s phenomenon and two out of the three symptoms listed below (swelling of the fingers, myositis, and synovitis) to qualify for a diagnosis of MCTD.

• #6 Mixed Connective-Tissue Disease (MCTD) Differential Diagnoses

  https://emedicine.medscape.com/article/335815-differential

  Overlapping criteria for diagnosis of mixed connective tissue disease (MCTD) have been published by Sharp, Alarcn-Segovia, Kasukawa, and Kahn. A 1996 comparison study determined that MCTD was best identified with the Alarcn-Segovia criteria, which have 62.5% sensitivity and 86.2% specificity, and the Kahn criteria. […] The Alarcn-Segovia diagnostic criteria consist of a positive antiU1 RNP titer (1:1600) and at least three of the following five clinical findings: Hand edema, Synovitis, Biologically or histologically proven myositis, Raynaud phenomenon, Acrosclerosis with or without proximal systemic sclerosis. […] A consensus panel in Japan in 2019 offered a revised set of diagnostic criteria for MCTD, which divides the features of the disease into the following four categories: Common manifestations: Raynaud phenomenon, puffy fingers and/or swollen hands; Immunologic manifestation: AntiU1-RNP antibody positivity; Characteristic organ involvement: Pulmonary arterial hypertension, aseptic meningitis, trigeminal neuropathy; Overlapping manifestations: (A) Systemic lupus erythematosus (SLE)like, (B) systemic sclerosislike, (C) polymyositis/dermatomyositis-like.

• #7 Mixed Connective Tissue Disease (Sharp’s disease) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/mixed-connective-tissue-disease-sharps-disease/

  Mixed connective tissue disease (MCTD) is a systemic autoimmune inflammatory disorder characterized by high titer U1-RNP antibodies, and clinical and serological overlap of systemic lupus erythematosus (SLE), systemic sclerosis (SScl), and polymyositis. […] There are four published criteria for the diagnoses of MCTD. Most authors use the Alarcon-Segovia criteria because of its simplicity, and high sensitivity and specificity (90% and 98% respectively). The criteria require high titer U1-RNP antibodies (defined as greater than 1:1600 with hemagglutination), and three of five additional signs: hand edema, synovitis, myositis, Raynauds phenomenon, and acrosclerosis. […] The diagnosis of an autoimmune disease is based on groups of signs, symptoms, and serologies. To discern MCTD from SLE, polymyositis, and SSc, a full autoimmune review of symptoms should be completed.

• #8 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  The Sharp criteria require at least four major criteria, as well as anti-U1-RNP antibody titer of at least 1:4000, or two major criteria from criteria 1, 2, and 3, and two minor criteria, plus anti-U1-RNP antibody titer of at least 1:1000. […] The Alarcn-Segovia criteria require serological criteria and at least three clinical criteria including either synovitis or myositis to qualify for a diagnosis of MCTD. […] The Kasukawa criteria require a minimum of one of the common symptoms, a positive anti-RNP antibody, as well as one or more symptoms of the mixed symptoms in at least two of the three disease categories to qualify for a diagnosis of MCTD. […] The Kahn criteria require serological criteria in addition to Raynaud’s phenomenon and two out of the three symptoms listed below (swelling of the fingers, myositis, and synovitis) to qualify for a diagnosis of MCTD.

• #9

  https://empendium.com/mcmtextbook/table/B31.16.8-1.

  1. Serologic criterion: Positive antibodies to U1 RNP antibodies at a titer 1:1600 […] 2. Clinical criteria: […] 1) Edema of the hands […] 2) Synovitis […] 3) Myositis […] 4) Raynaud phenomenon […] 5) Sclerodactyly […] Diagnosis of MCTD: Fulfilled serologic criterion and 3 of the clinical criteria (coexisting edema of the hands, Raynaud phenomenon, and Sclerodactyly require an additional fulfillment of the criteria 2b or 2c). […] […] […] 1. Common symptoms: […] 1) Raynaud phenomenon […] 2) Swollen fingers or hands […] 2. Positive antibodies to U1 RNP […] 3. Mixed findings: […] 1) SLE-like findings: […] a) Polyarthritis […] b) Lymphadenopathy […] c) Facial erythema […] d) Pericarditis or pleuritis […] e) Leukopenia or thrombocytopenia

• #10 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  The Sharp criteria require at least four major criteria, as well as anti-U1-RNP antibody titer of at least 1:4000, or two major criteria from criteria 1, 2, and 3, and two minor criteria, plus anti-U1-RNP antibody titer of at least 1:1000. […] The Alarcn-Segovia criteria require serological criteria and at least three clinical criteria including either synovitis or myositis to qualify for a diagnosis of MCTD. […] The Kasukawa criteria require a minimum of one of the common symptoms, a positive anti-RNP antibody, as well as one or more symptoms of the mixed symptoms in at least two of the three disease categories to qualify for a diagnosis of MCTD. […] The Kahn criteria require serological criteria in addition to Raynaud’s phenomenon and two out of the three symptoms listed below (swelling of the fingers, myositis, and synovitis) to qualify for a diagnosis of MCTD.

• #11 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] This activity reviews the latest knowledge and clinical skills necessary to accurately diagnose and effectively manage patients with mixed connective tissue disease. […] Most clinicians agree on a diagnosis if the following criteria are met: The presence of a high titer of positive anti-U1-RNP, and Raynaud phenomenon, puffy digits, or hand edema. […] In 2019, a consensus panel in Japan proposed another revised set of diagnostic criteria for MCTD, which divides the disease features into 4 categories.

• #12 Mixed Connective-Tissue Disease (MCTD) Differential Diagnoses

  https://emedicine.medscape.com/article/335815-differential

  Overlapping criteria for diagnosis of mixed connective tissue disease (MCTD) have been published by Sharp, Alarcn-Segovia, Kasukawa, and Kahn. A 1996 comparison study determined that MCTD was best identified with the Alarcn-Segovia criteria, which have 62.5% sensitivity and 86.2% specificity, and the Kahn criteria. […] The Alarcn-Segovia diagnostic criteria consist of a positive antiU1 RNP titer (1:1600) and at least three of the following five clinical findings: Hand edema, Synovitis, Biologically or histologically proven myositis, Raynaud phenomenon, Acrosclerosis with or without proximal systemic sclerosis. […] A consensus panel in Japan in 2019 offered a revised set of diagnostic criteria for MCTD, which divides the features of the disease into the following four categories: Common manifestations: Raynaud phenomenon, puffy fingers and/or swollen hands; Immunologic manifestation: AntiU1-RNP antibody positivity; Characteristic organ involvement: Pulmonary arterial hypertension, aseptic meningitis, trigeminal neuropathy; Overlapping manifestations: (A) Systemic lupus erythematosus (SLE)like, (B) systemic sclerosislike, (C) polymyositis/dermatomyositis-like.

• #13 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Diagnosis is based on at least 1 common manifestation, immunological manifestation, and either 1 characteristic organ involvement or at least 1 feature in 2 or more overlapping manifestations. […] Evaluating MCTD requires a comprehensive understanding of its diverse clinical manifestations and overlapping features with other connective tissue diseases. Clinicians must utilize a combination of detailed patient history, physical examination, and targeted diagnostic tests to diagnose and assess MCTD accurately. […] Laboratory studies are useful for evaluating the presence of the U1-RNP antibody, which is helpful for diagnosis. […] The sensitivity of the U1-RNP antibody is 100%, but its specificity is lower. […] Definitive diagnosis often requires close follow-up and identification of the characteristic clinical, laboratory, and radiologic findings.

• #14 Mixed Connective-Tissue Disease (MCTD) Differential Diagnoses

  https://emedicine.medscape.com/article/335815-differential

  Overlapping criteria for diagnosis of mixed connective tissue disease (MCTD) have been published by Sharp, Alarcn-Segovia, Kasukawa, and Kahn. A 1996 comparison study determined that MCTD was best identified with the Alarcn-Segovia criteria, which have 62.5% sensitivity and 86.2% specificity, and the Kahn criteria. […] The Alarcn-Segovia diagnostic criteria consist of a positive antiU1 RNP titer (1:1600) and at least three of the following five clinical findings: Hand edema, Synovitis, Biologically or histologically proven myositis, Raynaud phenomenon, Acrosclerosis with or without proximal systemic sclerosis. […] A consensus panel in Japan in 2019 offered a revised set of diagnostic criteria for MCTD, which divides the features of the disease into the following four categories: Common manifestations: Raynaud phenomenon, puffy fingers and/or swollen hands; Immunologic manifestation: AntiU1-RNP antibody positivity; Characteristic organ involvement: Pulmonary arterial hypertension, aseptic meningitis, trigeminal neuropathy; Overlapping manifestations: (A) Systemic lupus erythematosus (SLE)like, (B) systemic sclerosislike, (C) polymyositis/dermatomyositis-like.

• #15 Mixed connective tissue disease – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/diagnosis-treatment/drc-20375152

  During the physical exam, your doctor may check you for swollen hands and painful, swollen joints. You might also need a blood test to check for a certain antibody that is associated with mixed connective tissue disease. […] Some basic questions you might want answered include: What tests do I need? […] Your doctor is likely to ask you questions, such as: What, if anything, seems to improve or worsen your symptoms?

• #16 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The diagnosis of mixed connective tissue disease is based on all of the information doctors gather, including symptoms, physical examination results, and all test results. […] Doctors suspect mixed connective tissue disease when symptoms of lupus, systemic sclerosis, and polymyositis overlap. […] Blood tests are done to detect levels of antinuclear antibodies (ANA) and an antibody to ribonucleoprotein (RNP), which are present in most people who have mixed connective tissue disease. […] Although blood test results can help doctors diagnose the disease, they alone cannot confirm a definite diagnosis of mixed connective tissue disease because sometimes the abnormalities they detect are present in healthy people or in people who have other disorders. […] To determine whether people have pulmonary hypertension, doctors do pulmonary function testing to assess the lungs and echocardiography to assess the heart. If doctors suspect other organs are affected, they may do other tests, such as magnetic resonance imaging (MRI) or a muscle biopsy (removal of a piece of muscle tissue for examination and testing), to detect problems.

• #17 Mixed connective tissue disease – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/diagnosis-treatment/drc-20375152

  During the physical exam, your doctor may check you for swollen hands and painful, swollen joints. You might also need a blood test to check for a certain antibody that is associated with mixed connective tissue disease. […] Some basic questions you might want answered include: What tests do I need? […] Your doctor is likely to ask you questions, such as: What, if anything, seems to improve or worsen your symptoms?

• #18 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  MCTD can be difficult to diagnose because it can resemble several conditions. It may have dominant features of scleroderma, lupus, myositis or rheumatoid arthritis or a combination of these disorders. […] To make a diagnosis, your doctor will give you a physical exam. Theyll also ask you for a detailed history of your symptoms. If possible, keep a log of your symptoms, noting when they happen and how long they last. This information will be helpful for your doctor. […] If your doctor recognizes clinical signs of MCTD, such as swelling around the joints, rash, or evidence of cold sensitivity, they may order a blood test to check for certain antibodies associated with MCTD, such as anti-RNP, as well as the presence of inflammatory markers. […] They may also order tests to look for the presence of antibodies more closely associated with other autoimmune diseases to ensure an accurate diagnosis and/or confirm an overlap syndrome.

• #19 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The diagnosis of mixed connective tissue disease is based on all of the information doctors gather, including symptoms, physical examination results, and all test results. […] Doctors suspect mixed connective tissue disease when symptoms of lupus, systemic sclerosis, and polymyositis overlap. […] Blood tests are done to detect levels of antinuclear antibodies (ANA) and an antibody to ribonucleoprotein (RNP), which are present in most people who have mixed connective tissue disease. […] Although blood test results can help doctors diagnose the disease, they alone cannot confirm a definite diagnosis of mixed connective tissue disease because sometimes the abnormalities they detect are present in healthy people or in people who have other disorders. […] To determine whether people have pulmonary hypertension, doctors do pulmonary function testing to assess the lungs and echocardiography to assess the heart. If doctors suspect other organs are affected, they may do other tests, such as magnetic resonance imaging (MRI) or a muscle biopsy (removal of a piece of muscle tissue for examination and testing), to detect problems.

• #20 Mixed Connective Tissue Disease

  https://www.hss.edu/condition-list_mixed-connective-tissue-disease.asp

  To be diagnosed with MCTD, however, a person must test positive for the anti-RNP (ribonucleic protein) antibody, in addition to meeting specific clinical criteria. […] A positive test for anti-RNP antibody is required to make diagnosis of MCTD. Patients who test negative for this antibody are diagnosed as having overlap syndrome. […] Diagnosis is based on symptoms, physical exam findings, lab tests and radiological imaging studies. Since patients will show signs and symptoms of multiple disorders, MCTD and overlap syndrome are both difficult to diagnose. Sometimes it may take months or even years to determine the correct diagnosis, as symptoms tend to evolve over time.

• #21 Mixed Connective Tissue Disease – MCTD | Choose the Right Test

  https://arupconsult.com/content/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a complex, systemic, autoimmune disease generally described as an overlap syndrome. […] Early diagnosis is important because it may enable prevention of some of the more severe complications of MCTD, such as lung fibrosis. However, diagnosis can be challenging because patients with MCTD may meet criteria for other connective tissue diseases or SARDs. […] Diagnosis typically requires clinical examination, a thorough patient history, and laboratory testing for antinuclear antibodies (ANAs) as well as antibodies against U1 small nuclear ribonucleoprotein (anti-U1 RNP antibodies or anti-Smith/RNP [Sm/RNP] antibodies). […] The presence of significantly elevated levels of anti-Sm/RNP antibodies associated with the ANA speckled pattern, as detected by an indirect immunofluorescence antibody (IFA) assay, is a distinguishing characteristic of MCTD.

• #22 Mixed Connective Tissue Disease (Sharp’s disease) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/mixed-connective-tissue-disease-sharps-disease/

  By definition, 100% of patients with MCTD will have a positive antinuclear antibody (ANA) in a speckled pattern with high titer U1-RNP autoantibodies. Approximately 30 to 100% of patients will also have a positive Rheumatoid factor. Patients with MCTD should not have positive anti-Sm, dsDNA, Scl-70, anti-centromere, or anti-Jo antibodies. […] As mentioned previously, the Alarcon-Segovia criteria can be used as a fairly accurate diagnostic tool. The criteria require high titer U1-RNP antibodies (defined as greater than 1:1600 with hemagglutination), and three of five additional signs: hand edema, synovitis, myositis, Raynauds phenomenon, and acrosclerosis. […] The diagnoses of MCTD is, in itself, often a clinical conundrum. Making a diagnosis of MTCD requires careful assessment of the patients history, review of systems, physical examination, and serologies. Exclusion of SLE, SSc, and polymyositis can be difficult.

• #23 Mixed connective tissue disease – UpToDate

  https://www.uptodate.com/contents/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a systemic rheumatic disease characterized by the presence of high-titer anti-U1 ribonucleoprotein (RNP) antibodies in combination with clinical features commonly seen in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), and polymyositis (PM). […] It often takes several years before enough overlapping features have appeared to be confident that MCTD is the most appropriate diagnosis. The distinctive overlap features of SLE, SSc, inflammatory arthritis, and PM commonly appear sequentially over time. Thus, in its early stages, MCTD may present with features of undifferentiated connective tissue disease (UCTD). […] This topic will review the clinical manifestations, diagnosis, treatment and prognosis of MCTD. […] When to suspect mixed connective tissue disease […] Evaluation […] History and physical examination […] Laboratory testing […] Establishing the diagnosis.

• #24 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The diagnosis of mixed connective tissue disease is based on all of the information doctors gather, including symptoms, physical examination results, and all test results. […] Doctors suspect mixed connective tissue disease when symptoms of lupus, systemic sclerosis, and polymyositis overlap. […] Blood tests are done to detect levels of antinuclear antibodies (ANA) and an antibody to ribonucleoprotein (RNP), which are present in most people who have mixed connective tissue disease. […] Although blood test results can help doctors diagnose the disease, they alone cannot confirm a definite diagnosis of mixed connective tissue disease because sometimes the abnormalities they detect are present in healthy people or in people who have other disorders. […] To determine whether people have pulmonary hypertension, doctors do pulmonary function testing to assess the lungs and echocardiography to assess the heart. If doctors suspect other organs are affected, they may do other tests, such as magnetic resonance imaging (MRI) or a muscle biopsy (removal of a piece of muscle tissue for examination and testing), to detect problems.

• #25 Mixed connective tissue disease: What to know

  https://www.medicalnewstoday.com/articles/mixed-connective-tissue-disease

  One of the primary challenges of MCTD is its diagnosis, which often involves a long process of physical evaluations, laboratory tests, and clinical assessments. […] Diagnosing MCTD is often challenging due to its overlapping symptoms with other connective tissue diseases as well as lupus. A thorough evaluation by a rheumatologist is often necessary. […] Doctors rely on a combination of clinical criteria, blood and antibody testing, and imaging studies to make an accurate diagnosis. […] In MCTD, people often have low levels of red blood cells, or anemia, and low levels of white blood cells, known as leukopenia. Other substances in the blood may be high, such as: […] If a person has lung or heart issues, chest X-rays may help doctors identify fluid around the lungs or an enlarged heart. Joint X-rays can reveal joint changes, such as erosion. […] They may also order echocardiograms and electrocardiograms to assess heart health or to look for signs of pulmonary hypertension. These tests help doctors understand the extent of the disease and guide treatment decisions.

• #26 Capillaroscopy as a diagnostic tool in the diagnosis of mixed connective tissue disease (MCTD): a case report | BMC Rheumatology | Full Text

  https://bmcrheumatol.biomedcentral.com/articles/10.1186/s41927-021-00179-2

  In a systemic disease in which vascular damage is one of the pathogenetic factors, abnormalities in capillary morphology should be observed long before the onset of clinical symptoms. […] A long history of Raynauds phenomenon is usually reported in MCTD patients, even prior to diagnosis, and Raynauds phenomenon is often the only, or one of few, MCTD symptoms at the time of suspected diagnosis. […] Notably, capillaroscopy has been included in the updated 2013 American College of Rheumatology/ European League Against Rheumatism (ACR/EULAR) classification criteria for SSc and is considered a key investigative tool in the early phase of the disease. […] MCTD similarly seems to have a pattern of microangiopathy. […] Overall, more than half of patients with MCTD and jMCTD demonstrate a scleroderma pattern on nailfold capillaroscopy, and this has been reported to be associated with the development of internal organ complications.

• #27 Capillaroscopy as a diagnostic tool in the diagnosis of mixed connective tissue disease (MCTD): a case report | BMC Rheumatology | Full Text

  https://bmcrheumatol.biomedcentral.com/articles/10.1186/s41927-021-00179-2

  Hence, we argue that nailfold video-capillaroscopy, which is the gold standard for detection of microvascular abnormalities and already a critical component of the systemic sclerosis classification criteria, should be considered as an early screening tool for the detection of microangiopathy in patients with the diagnosis of MCTD and jMCTD. […] In summary, based upon the existing research in this area, and as outlined in our above case, we propose that nailfold video capillaroscopy be included in the early assessment of all patients with MCTD and jMCTD.

• #28 Orphanet: Mixed connective tissue disease

  https://www.orpha.net/en/disease/detail/809

  Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) and/or rheumatoid arthritis (RA). […] Most patients have high titers (often 1:1000) of anti-U1-ribonucleoprotein (RNP) and anti-U1-70 kd autoantibodies. The diagnosis of MCTD relies on overlapping features of SLE, SSc, PM, or RA (or when additional overlapping features are present in patients with a well-defined connective tissue disease) and on blood test results indicating high titers of anti-U1-RNP antibodies with normal titers of other connective tissue disease antibodies (except anti-SSA and/or anti-SSB antibodies in cases with secondary Sjgren syndrome). […] Differential diagnoses include other connective tissue diseases such as SLE, SSc, PM and/or RA, and other systemic diseases such as sarcoidosis, periarteritis nodosa, or Still’s disease.

• #29 Mixed connective tissue disease – UpToDate

  https://www.uptodate.com/contents/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a systemic rheumatic disease characterized by the presence of high-titer anti-U1 ribonucleoprotein (RNP) antibodies in combination with clinical features commonly seen in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), and polymyositis (PM). […] It often takes several years before enough overlapping features have appeared to be confident that MCTD is the most appropriate diagnosis. The distinctive overlap features of SLE, SSc, inflammatory arthritis, and PM commonly appear sequentially over time. Thus, in its early stages, MCTD may present with features of undifferentiated connective tissue disease (UCTD). […] This topic will review the clinical manifestations, diagnosis, treatment and prognosis of MCTD. […] When to suspect mixed connective tissue disease […] Evaluation […] History and physical examination […] Laboratory testing […] Establishing the diagnosis.

• #30 Orphanet: Mixed connective tissue disease

  https://www.orpha.net/en/disease/detail/809

  Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) and/or rheumatoid arthritis (RA). […] Most patients have high titers (often 1:1000) of anti-U1-ribonucleoprotein (RNP) and anti-U1-70 kd autoantibodies. The diagnosis of MCTD relies on overlapping features of SLE, SSc, PM, or RA (or when additional overlapping features are present in patients with a well-defined connective tissue disease) and on blood test results indicating high titers of anti-U1-RNP antibodies with normal titers of other connective tissue disease antibodies (except anti-SSA and/or anti-SSB antibodies in cases with secondary Sjgren syndrome). […] Differential diagnoses include other connective tissue diseases such as SLE, SSc, PM and/or RA, and other systemic diseases such as sarcoidosis, periarteritis nodosa, or Still’s disease.

• #31

  https://www.painscale.com/article/diagnosing-mixed-connective-tissue-disease-mctd

  Mixed connective tissue disease can be difficult to diagnose due to its resemblance to other connective tissue conditions, such as polymyositis, scleroderma and systemic lupus erythematosus (SLE). […] The diagnostic process may include the following: A health care professional will conduct a physical exam to check for swollen, painful hands and joints. A detailed health history will be obtained. A written log of symptoms, duration of symptoms and frequency of symptoms is helpful in determining a MCTD diagnosis. […] If MCTD is suspected, a blood test will be ordered to check for inflammatory markers and certain antibodies, such as anti-RNP. A blood test will also determine if antibodies associated with other autoimmune diseases are present to ensure a proper diagnosis.

• #32 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease

  MCTD can be difficult for healthcare providers to diagnose because the three conditions (lupus, scleroderma and polymyositis) that combine and cause it usually dont happen at the same time. […] Because they occur one after the other over a long period of time, it may take several years before a provider can make an accurate diagnosis of MCTD. You’ll likely work with a specialist called a rheumatologist in the diagnosis of MCTD. […] There are four features that point to MCTD rather than another connective tissue disorder: High concentrations of an antibody called anti-U1-RNP (ribonucleoprotein) in blood tests […] An absence of severe kidney and central nervous system problems often found in people with lupus […] Severe arthritis and pulmonary hypertension, which may not be found in people with either lupus or scleroderma […] Raynauds phenomenon, swollen hands or puffy fingers, which occur in only about 25% of people with lupus.

• #33

  https://link.springer.com/article/10.1007/s10067-022-06286-w

  As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. […] Out of 85 patients initially referred as MCTD, only one-third (33/85, 39%) fulfilled the diagnostic MCTD criteria and the other patients had undifferentiated CTD (16/85, 19%), non-MCTD overlap syndromes (11/85, 13%) and other rheumatic diseases. […] Our study showed a high risk for misdiagnosis for patients with MCTD. […] The challenge of MCTD diagnosis was further reflected in the high percentage of patients (56/85, 66%) referred as MCTD patients, but not fulfilling any MCTD criteria set. […] The use of four different diagnostic MCTD criteria may further contribute to some diagnostic uncertainty in clinical routine. Performance of MCTD criteria showed the highest sensitivities for Kasukawas (31/33, 94%) and Alarcn-Segovias criteria (30/33, 91%). […] As a disease with a broad spectrum of clinical manifestations, significant overlap with other rheumatic diseases, heterogeneous use of diagnostic criteria and low disease prevalence, MCTD represents a significant diagnostic challenge even for rheumatologists.

• #34

  https://link.springer.com/article/10.1007/s10067-022-06286-w

  As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. […] Out of 85 patients initially referred as MCTD, only one-third (33/85, 39%) fulfilled the diagnostic MCTD criteria and the other patients had undifferentiated CTD (16/85, 19%), non-MCTD overlap syndromes (11/85, 13%) and other rheumatic diseases. […] Our study showed a high risk for misdiagnosis for patients with MCTD. […] The challenge of MCTD diagnosis was further reflected in the high percentage of patients (56/85, 66%) referred as MCTD patients, but not fulfilling any MCTD criteria set. […] The use of four different diagnostic MCTD criteria may further contribute to some diagnostic uncertainty in clinical routine. Performance of MCTD criteria showed the highest sensitivities for Kasukawas (31/33, 94%) and Alarcn-Segovias criteria (30/33, 91%). […] As a disease with a broad spectrum of clinical manifestations, significant overlap with other rheumatic diseases, heterogeneous use of diagnostic criteria and low disease prevalence, MCTD represents a significant diagnostic challenge even for rheumatologists.

• #35 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  The aim of this review is to summarize current knowledge on the early recognition of MCTD. […] MCTD is a rare condition, and diagnosis is further complicated by the presence of overlapping features with other conditions. […] Distinguishing MCTD from other systemic rheumatic diseases, including overlap syndromes, is a clinical challenge due to the heterogeneity of disease presentations; misdiagnosis at presentation of the disease is thus common in up to 61% of a single center cohort. […] An early diagnosis of MCTD generally starts with the recognition of RA-like inflammatory arthritis, RP, myalgia/myositis, and rarely, trigeminal neuropathy. […] A correct early diagnosis can be made starting with the presence of the anti-U1RNP antibody, which is already present in patients before clinical disease onset.

• #36 Mixed Connective Tissue Disease – MCTD | Choose the Right Test

  https://arupconsult.com/content/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a complex, systemic, autoimmune disease generally described as an overlap syndrome. […] Early diagnosis is important because it may enable prevention of some of the more severe complications of MCTD, such as lung fibrosis. However, diagnosis can be challenging because patients with MCTD may meet criteria for other connective tissue diseases or SARDs. […] Diagnosis typically requires clinical examination, a thorough patient history, and laboratory testing for antinuclear antibodies (ANAs) as well as antibodies against U1 small nuclear ribonucleoprotein (anti-U1 RNP antibodies or anti-Smith/RNP [Sm/RNP] antibodies). […] The presence of significantly elevated levels of anti-Sm/RNP antibodies associated with the ANA speckled pattern, as detected by an indirect immunofluorescence antibody (IFA) assay, is a distinguishing characteristic of MCTD.

• #37 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  Mixed Connective Tissue Disease (MCTD) is an autoimmune disease first described by Sharp et al in 1972, characterized by the presence of anti-Ribonucleoprotein antibodies directed against the U1 complex (anti-U1RNP). […] Diagnosis is quite difficult due to its rarity, the lack of validated classification criteria, and its heterogeneous clinical presentation. […] MCTD should be considered a distinct entity due to the presence of a specific genetic substrate and the presence of the high titer of a specific autoantibody, anti-U1RNP, present in all the commercial kits for Extractable Nuclear Antigens, and almost always associated with Antinuclear Antibody positivity with a coarse speckled pattern. […] Except for anti-U1RNP, no specific biomarkers are available to guide clinicians to a correct classification of MCTD, which is arrived at by the association of clinical, serological and instrumental evaluation.

• #38 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  The aim of this review is to summarize current knowledge on the early recognition of MCTD. […] MCTD is a rare condition, and diagnosis is further complicated by the presence of overlapping features with other conditions. […] Distinguishing MCTD from other systemic rheumatic diseases, including overlap syndromes, is a clinical challenge due to the heterogeneity of disease presentations; misdiagnosis at presentation of the disease is thus common in up to 61% of a single center cohort. […] An early diagnosis of MCTD generally starts with the recognition of RA-like inflammatory arthritis, RP, myalgia/myositis, and rarely, trigeminal neuropathy. […] A correct early diagnosis can be made starting with the presence of the anti-U1RNP antibody, which is already present in patients before clinical disease onset.

• #39 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  Evaluating MCTD requires a comprehensive understanding of its diverse clinical manifestations and overlapping features with other connective tissue diseases. Clinicians must utilize a combination of detailed patient history, physical examination, and targeted diagnostic tests to diagnose and assess MCTD accurately. […] Laboratory studies are useful for evaluating the presence of the U1-RNP antibody, which is helpful for diagnosis. They are also valuable for characterizing the severity of potential organ involvement and assessing the presence of other features of overlapping autoimmune rheumatologic disease. […] Imaging and other diagnostic studies are not necessarily indicated unless there is a suspicion of focal organ involvement. […] Diagnosis can be challenging due to variable and mixed patient presentations and changes in symptoms over time. Early diagnosis is associated with improved outcomes. Recognizing signs and symptoms and making an early referral to a rheumatologist is crucial. Definitive diagnosis often requires close follow-up and identification of the characteristic clinical, laboratory, and radiologic findings.

• #40 Mixed Connective Tissue Disease – MCTD | Choose the Right Test

  https://arupconsult.com/content/mixed-connective-tissue-disease

  Various diagnostic criteria have been proposed for MCTD; however, only the Alarcn-Segovia criteria and the Kasukawa criteria have been regularly used. […] To fulfill the Alarcn-Segovia criteria, patients must have significantly elevated anti-Sm/RNP antibody levels, in addition to three or more of the following signs and symptoms: edema of hands, synovitis, myositis, Raynaud phenomenon, and acrosclerosis. […] The clinical characteristics of MCTD in a given patient can change over time so that MCTD is eventually classified as a different SARD. […] Long-term monitoring of patients with MCTD is recommended to assess disease course and possible progression to another connective tissue disease.

• #41 Mixed Connective Tissue Disease (MCTD) | Doctor

  https://patient.info/doctor/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) was first described as a distinct entity in 1972. […] MCTD should be distinguished from undifferentiated connective tissue disease (UCTD). In MCTD, there are features of multiple different connective tissue disorders. […] The original criteria (Sharp criteria) required in order to make the diagnosis are: For a definite diagnosis, four major criteria in the presence of raised levels of anti-U1-RNP Ab and absence of anti-smooth muscle antibodies. […] Other diagnostic criteria include the Alarcn-Segovia criteria, and the 2019 Japanese consensus criteria. […] A patient presenting with features suggestive of MCTD may have the following investigations performed: FBC may show anaemia, thrombocytopenia and low white cell count. […] Anti-U1-RNP Ab is almost always raised. […] All patients with MCTD should be regularly reviewed and reassessed, as some will go on to develop other connective tissue diseases such as SLE, scleroderma or an overlap syndrome.

• #42 Mixed Connective Tissue Disease (MCTD) | Doctor

  https://patient.info/doctor/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) was first described as a distinct entity in 1972. […] MCTD should be distinguished from undifferentiated connective tissue disease (UCTD). In MCTD, there are features of multiple different connective tissue disorders. […] The original criteria (Sharp criteria) required in order to make the diagnosis are: For a definite diagnosis, four major criteria in the presence of raised levels of anti-U1-RNP Ab and absence of anti-smooth muscle antibodies. […] Other diagnostic criteria include the Alarcn-Segovia criteria, and the 2019 Japanese consensus criteria. […] A patient presenting with features suggestive of MCTD may have the following investigations performed: FBC may show anaemia, thrombocytopenia and low white cell count. […] Anti-U1-RNP Ab is almost always raised. […] All patients with MCTD should be regularly reviewed and reassessed, as some will go on to develop other connective tissue diseases such as SLE, scleroderma or an overlap syndrome.

• #43

  https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)

  Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. […] Often a person with MCTD will visit many doctors before they receive a confirmed diagnosis. […] The diagnosis is usually made by a rheumatologist after a patient is assessed with signs and symptoms of different diseases (ex. lupus, scleroderma and polymyositis). […] The diagnosis requires the presence of high levels of anti-RNP antibodies the rheumatologist will check for this. […] It is usually diagnosed by a history, physical examination with features of a few connective tissue diseases and a positive antibody for RNP. […] A diagnosis of MCTD is typically made or confirmed by a rheumatologist.

• #44 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Diagnosis is based on at least 1 common manifestation, immunological manifestation, and either 1 characteristic organ involvement or at least 1 feature in 2 or more overlapping manifestations. […] Evaluating MCTD requires a comprehensive understanding of its diverse clinical manifestations and overlapping features with other connective tissue diseases. Clinicians must utilize a combination of detailed patient history, physical examination, and targeted diagnostic tests to diagnose and assess MCTD accurately. […] Laboratory studies are useful for evaluating the presence of the U1-RNP antibody, which is helpful for diagnosis. […] The sensitivity of the U1-RNP antibody is 100%, but its specificity is lower. […] Definitive diagnosis often requires close follow-up and identification of the characteristic clinical, laboratory, and radiologic findings.

• #45 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  Evaluating MCTD requires a comprehensive understanding of its diverse clinical manifestations and overlapping features with other connective tissue diseases. Clinicians must utilize a combination of detailed patient history, physical examination, and targeted diagnostic tests to diagnose and assess MCTD accurately. […] Laboratory studies are useful for evaluating the presence of the U1-RNP antibody, which is helpful for diagnosis. They are also valuable for characterizing the severity of potential organ involvement and assessing the presence of other features of overlapping autoimmune rheumatologic disease. […] Imaging and other diagnostic studies are not necessarily indicated unless there is a suspicion of focal organ involvement. […] Diagnosis can be challenging due to variable and mixed patient presentations and changes in symptoms over time. Early diagnosis is associated with improved outcomes. Recognizing signs and symptoms and making an early referral to a rheumatologist is crucial. Definitive diagnosis often requires close follow-up and identification of the characteristic clinical, laboratory, and radiologic findings.

• #46 What is Mixed Connective Tissue Disease? How is it diagnosed and how is it treated? | Centro Médico Teknon

  https://www.teknon.es/en/especialidades/castro-dominguez-francisco/frequent-questions/mixed-connective-tissue-disease-diagnosed-treated

  Mixed Connective Tissue Disease (MCTD) is a rare autoimmune disorder characterized by a combination of clinical and laboratory features from various connective tissue diseases, including systemic lupus erythematosus (SLE), systemic sclerosis (scleroderma), and polymyositis/dermatomyositis. It was first described in the 1970s and is considered an overlap syndrome due to the overlap of symptoms from different autoimmune conditions. […] The diagnosis of Mixed Connective Tissue Disease involves a combination of clinical assessment, laboratory tests, and sometimes imaging studies. Key diagnostic criteria include: […] Detection of antibodies against U1 ribonucleoprotein (anti-U1 RNP) is a hallmark of Mixed Connective Tissue Disease. This antibody is present in the majority of individuals with Mixed Connective Tissue Disease. […] The diagnosis of Mixed Connective Tissue Disease requires the exclusion of other connective tissue diseases. […] Early and accurate diagnosis, along with ongoing medical care, plays a crucial role in improving the prognosis and quality of life for individuals with Mixed Connective Tissue Disease.

• #47 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  Evaluating MCTD requires a comprehensive understanding of its diverse clinical manifestations and overlapping features with other connective tissue diseases. Clinicians must utilize a combination of detailed patient history, physical examination, and targeted diagnostic tests to diagnose and assess MCTD accurately. […] Laboratory studies are useful for evaluating the presence of the U1-RNP antibody, which is helpful for diagnosis. They are also valuable for characterizing the severity of potential organ involvement and assessing the presence of other features of overlapping autoimmune rheumatologic disease. […] Imaging and other diagnostic studies are not necessarily indicated unless there is a suspicion of focal organ involvement. […] Diagnosis can be challenging due to variable and mixed patient presentations and changes in symptoms over time. Early diagnosis is associated with improved outcomes. Recognizing signs and symptoms and making an early referral to a rheumatologist is crucial. Definitive diagnosis often requires close follow-up and identification of the characteristic clinical, laboratory, and radiologic findings.

• #48 The diagnosis and classification of mixed connective tissue disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/24461387/

  The term „mixed connective tissue disease” (MCTD) concerns a systemic autoimmune disease typified by overlapping features between two or more systemic autoimmune diseases and the presence of antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP). […] Although controversies on disease definition and classification still persist, MCTD identifies a group of patients in whom increased surveillance for specific manifestations and prognostic stratification became mandatory to improve patient’s outcomes.

• #49 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with the main features of at least 2 overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. […] Multiple attempts have been made to develop classification criteria, but there are currently no internationally agreed-upon diagnostic criteria. Most clinicians agree on a diagnosis if the following criteria are met: The presence of a high titer of positive anti-U1-RNP, and Raynaud phenomenon, puffy digits, or hand edema. […] In 2019, a consensus panel in Japan proposed another revised set of diagnostic criteria for MCTD, which divides the disease features into 4 categories. […] Diagnosis is based on at least 1 common manifestation, immunological manifestation, and either 1 characteristic organ involvement or at least 1 feature in 2 or more overlapping manifestations. These criteria have a sensitivity of 90.6% and a specificity of 98.4%, although they have not been formally adopted by the international community.

• #50 Mixed connective tissue disease: state of the art on clinical practice guidelines | RMD Open

  https://rmdopen.bmj.com/content/4/Suppl_1/e000783

  CPGs on MCTD treatment: There is no agreement about the initial or long-term treatment of MCTD, especially on the usefulness of low-dose glucocorticoids, antimalaria and immunosuppressive therapies in various clinical situations. […] This review highlights the absence of specific CPG on MCTD. There is a need for high-quality evidence-based guidelines to assist practitioner and patient decisions about MCTD healthcare. Further CPGs should focus on MCTD diagnosis, evaluations, treatment and patients needs.

• #51

  https://link.springer.com/article/10.1007/s10238-020-00606-7

  Mixed connective tissue disease was first described as a new autoimmune rheumatic disease in 1972 based on the claim of a distinct clinical picture associated with anti-RNP antibody positivity. […] Since it was first described, the clinical picture of MCTD has changed. Four different classification and diagnostic criteria have been developed (Sharp, Alarcon-Segovia, Kasukawa and Kahn) and compared in several studies. […] Overall, it is hard to escape the conclusion that there is no current evidence or agreement about the optimal criteria for diagnosis, follow-up or treatment strategies. […] Further and larger studies are still needed to assess the significance of anti-U1RNP antibodies in ARD. Further long-term cohort studies encompassing all undifferentiated patients are also needed to ascertain diagnostic criteria, optimal follow-up, treatment and prognosis.

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