Mixed Connective Tissue Disease

 

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Definition/Description[edit | edit source]

Mixed connective tissue disease (MCTD) is a systemic disease which consists of clinical symptoms observed in the three following disorders: systemic lupus erythematosus, polymyositis, and systemic sclerosis.[1] [2] MCTD is considered an overlapping disease due to the features of these three disorders which can be categorized broadly as arthritic changes, cardiopulmonary dysfunctions, skin changes, muscle weakness, kidney disease, and dysfunctions of the esophagus.[3]

The symptoms associated with the three underlying disorders do not usually present all at once.[4] In fact, it usually takes several years before the symptoms of each individual disorder present which ultimately complicates the diagnosis of MCTD.[4] Typically, the hands are affected and present as the first symptom of MCTD. Swelling to the fingers or the presentation of “sausage fingers” is common.[5] As the disease progresses, it can often affect the organs such as lungs, heart or the kidneys.[3] There is no definite cure for MCTD, however side effects can be managed through the use of medications.[5]

Prevalence[edit | edit source]

It has been reported that 80% of individuals diagnosed with MCTD are women with the highest prevalence under the age of thirty years of age.[4] Other sources have reported statistics collected from patients from 5 years of age through 80, with the peak prevalence around 20 years of age. [6] It is estimated that this disease occurs in about 3.8 out of every 100,000 individuals. [2] 
 

Characteristics/Clinical Presentation [5][edit | edit source]

The initial sign of MCTD may be shown as a presentation of puffy and swollen hands, Raynaud’s phenomenon, and polyarthritis.[1][2][3][7][8]

Some of the “classical conditions or signs” of MCTD include: 

  • Inflammation of muscles and joints
  • Pulmonary hypertension
  • Raynaud’s phenomenon
  • Swollen fingers, often “sausage like” and can be a temporary stage of the disease but also can progress into limited movement of the fingers due to thinning of fingers and thickening of the skin[2]

The chart below lists some of the symptoms common versus uncommon symptoms in early stages of MCTD.[5]

Common.png

Associated Co-morbidities[edit | edit source]

Associated Co-morbidities

Medications[edit | edit source]

Medications

  • Corticosteroids[4][6]
  • Anti-malarial drugs[4]
  • Calcium channel blockers[4]
  • Nonsteroidal anti-inflammatory drugs[2][6]
  • Immunosuppressive drugs[6]
  • Calcium channel blockers[2][4]
  • Phosphodiesterase inhibitors[2]
  • Endothelin receptor antagonists[2]
  • Prostoglandins[2]
  • Proton pump inhibitors[2]

Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Laboratory Testing Often Includes:[2]

  • Anti-U1-RNP (rubonucleoprotein) antigens
  • Urinalysis
  • Muscle enzymes (myositis involvement)
  • Complete blood count (CBC)
  • Antinuclear antibodies
  • Lipase and amylase (pancreatitis involvement)
  • Routine blood chemistry

To check for systemic involvement, the following imaging testing can be performed[2]

  • Chest radiography- assesses for infiltrates, effusions, and cardiomegaly
  • MRI- asses for neuropsychiatric signs or symptoms
  • CT scan/ultrasound- evaluates abdominal pain in cases of suspected serositis, pancreatitis, and/or visceral perforation related to vasculitis
  • Echocardiography- assesses for effusion, chest pain, pulmonary hypertension, or valvular disease

Systemic involvement tests may also include cardiopulmonary testing, such as:[10]

  • Electrocardiography
  • Pulmonary function tests
  • Six minute walk test [3]


Currently, there are three different criteria sets given by three authors: Modified Sharp et al (1987), Alarcon Segovia et al (1987), Kauskawa et al (1987).[9] However, there is no standard or universal criteria set. There are currently three different criteria classification systems that are associated to predicting the probability that an individual may have MCTD. Listed below are the criteria sets that are presently used in the diagnosing MCTD.

Etiology/Causes[edit | edit source]

The exact cause of MCTD is unknown, but it has been classified as an autoimmune disorder. Individuals with this disease have high levels of antinuclear antibodies (ANAs) and antibodies to U1 snRNP.[3] Due to the high number of autoimmune antigens in the body, the body will try to protect itself but instead attack healthy tissues.

MCTD has been linked to occur in individuals who report in having a family member who also has a connective tissue disease.[5] Also, certain exposures to chemicals or viruses such as silica or polyvinyl chloride have been found as potential causes of MCTD.[5]

Systemic Involvement[edit | edit source]

MCTD has a systemic component that has potentially drastic effects on many systems of the body including:

SystemicInvolvement.png

Medical Management (current best evidence)[edit | edit source]

Since no cure has yet to be discovered for this disease, medical management is focused on treating the patient’s symptoms through the use of medication and minimizing systemic involvement. The symptoms of arthritis and/or arthralgia are often managed through the use of nonsteroidal anti-inflammatory drugs and hydroxychloroquine. Proton pump inhibitors are used to help control symptoms of esophageal reflux and calcium channel blockers are used in the treatment of Raynaud phenomenon. Low-dose corticosteroids and methotrexate are used in the treatment of synovitis and phosphodiesterase inhibitors, prostaglandins, and/or endothelin receptor antagonists are used to control pulmonary hypertension.[2]

The individual with MCTD should follow up with their physician in regard to screening for systemic involvement and depending on the impairments found, the patient should be referred to the appropriate specialist.

Physical Therapy Management (current best evidence)[edit | edit source]

Since there has been limited research regarding physical therapy treatment in patients with MCTD, interventions should be tailored to address the impairments of each individual. Although each person presents differently, there are some common areas that need to be addressed in all cases. Individuals with MCTD often present with decreased aerobic capacity and weakness of the proximal musculature.[10] Physical therapists should treat according to the common deficits seen in the disease as well as personal impairments that arise with each case.

Common areas of focus may include:

  • Educate patient regarding joint protection
  • Aerobic and endurance training
  • Range of motion exercises to maintain available range
  • Passive stretching, including splinting for joint protection
  • Strengthening total body exercises (including proximal musculature)
  • Skin education and management
  • Energy conservation techniques

Differential Diagnosis [2][edit | edit source]

  • Systemic Lupus Erythematosus- chronic inflammatory disease characterized by protean manifestations with a relapsing and remitting course
  • Scleroderma- progressive skin hardening and induration
  • Dermatomyositis- idiopathic inflammatory myopathy with characteristic signs commonly present in the skin, muscles, and joints
  • Polymyositis- idiopathic inflammatory myopathy which results in symmetrical proximal muscle weakness
  • Primary pulmonary hypertension- elevated pulmonary artery pressure with no known cause, if left untreated will lead to right-sided heart failure
  • Raynaud phenomenon- recurrent vasospasms of the fingers or toes which usually occurs as a result of stress or exposure to the cold
  • Bacterial sepsis- the presence of infection along with the systemic inflammatory response syndrome
  • Pleuritis- inflammation in the lining of the lungs
  • Rheumatoid arthritis- chronic systemic inflammatory disease with an unknown cause

Case Reports/ Case Studies[edit | edit source]

Karmacharya P, Mainali N, Aryal M, Lloyd B. Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease. Case Reports [Internet]. 2013 [2016 Apr 8];2013(apr30 1):bcr2013009571-bcr2013009571. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645838/

Souto Filho J, de Barros P, da Silva A, Barbosa F, Ribas G. Thrombotic Thrombocytopenic Purpura Associated with Mixed Connective Tissue Disease: A Case Report. Case Reports in Medicine [Internet]. 2011 [Cited 2016 Apr 8];2011:1-5.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170900/

Fantò M, Salemi S, Socciarelli F, Bartolazzi A, Natale G, Casorelli I et al. A Case of Subacute Cutaneous Lupus Erythematosus in a Patient with Mixed Connective Tissue Disease: Successful Treatment with Plasmapheresis and Rituximab. Case Reports in Rheumatology [Internet]. 2013 [Cited 2016 Apr 8];2013:1-4. 

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745888/

Resources
[edit | edit source]

About Mixed Connective Tissue Disease

www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/basics/definition/con-20026515

Help finding a rheumatologist
http://www.rheumatology.org/

Lupus Foundation of America, Inc.
[1]

Recent Related Research (from Pubmed)[edit | edit source]


== Recent Related Research (from Pubmed) ==
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<title>pubmed: mixed connective tis...</title>
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<title>NCBI pubmed</title>
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<link>http://www.ncbi.nlm.nih.gov/sites/entrez</link>
<description>PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.</description>
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<item>
<title>Estimating the incidence of connective tissue diseases and vasculitides in a defined population in Northern Savo area in 2010.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27053177?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://dx.doi.org/10.1007/s00296-016-3474-7"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" border="0"/></a> </td></tr></table>
<p><b>Estimating the incidence of connective tissue diseases and vasculitides in a defined population in Northern Savo area in 2010.</b></p>
<p>Rheumatol Int. 2016 Apr 6;</p>
<p>Authors: Elfving P, Marjoniemi O, Niinisalo H, Kononoff A, Arstila L, Savolainen E, Rutanen J, Kaipiainen-Seppänen O</p>
<p>Abstract<br/>
Objective of the study was to evaluate the annual incidence and distribution of autoimmune connective tissue diseases and vasculitides during 2010. All units practicing rheumatology in the Northern Savo area, Finland, participated in the study by collecting data on newly diagnosed adult patients with autoimmune connective tissue disease or vasculitis over 1-year period. Seventy-two cases with autoimmune connective tissue disease were identified. The annual incidence rates were as follows: systemic lupus erythematosus 3.4/100,000 (95 % CI 1.4-7.0), idiopathic inflammatory myopathies 1.9 (0.5-5.0), systemic sclerosis 4.4 (2.0-8.3), mixed connective tissue disease 1.0 (0.1-3.5), Sjögren's syndrome 10.7 (6.7-16.1) and undifferentiated connective tissue disease 13.6 (9.0-19.6). The annual incidence rates among vasculitis category were as follows: antineutrophil cytoplasmic antibody-associated vasculitis 1.5/100,000 (95 % CI 0.3-4.3), central nervous system vasculitis 0.5 (0-2.7) and Henoch-Schönlein purpura 1.5 (0.3-4.3). The annual incidence of giant cell arteritis in the age group of 50 years or older was 7.5/100,000 (95 % CI 3.2-14.8). The longest delay from symptom onset to diagnosis occurred in systemic sclerosis. The incidences of autoimmune connective tissue diseases and vasculitides were comparable with those in published literature. The present study showed female predominance in all connective tissue diseases, excluding idiopathic inflammatory muscle diseases and mean age at onset of disease around 50 years of age. Despite improved diagnostic tools, diagnostic delay is long especially among patients with systemic sclerosis.<br/>
</p><p>PMID: 27053177 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Elfving P, Marjoniemi O, Niinisalo H, Kononoff A, Arstila L, Savolainen E, Rutanen J, Kaipiainen-Seppänen O</author>
<category>Rheumatol Int</category>
<guid isPermaLink="false">PubMed:27053177</guid>
</item>
<item>
<title>Pulmonary involvement in systemic sclerosis: A clinical profile.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27051100?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27051100/"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--www.ncbi.nlm.nih.gov-corehtml-pmc-pmcgifs-pubmed-pmc.gif" border="0"/></a> </td></tr></table>
<p><b>Pulmonary involvement in systemic sclerosis: A clinical profile.</b></p>
<p>Lung India. 2016 Mar-Apr;33(2):144-7</p>
<p>Authors: Deepa AS, Rachel RP, Ramchandran P, Devaraj U, Arnold SA, Shobha V, D'souza G</p>
<p>Abstract<br/>
BACKGROUND: Systemic sclerosis is a generalized disorder of connective tissue affecting skin and internal organs. Lung involvement accounts for significant morbidity and is a leading cause of mortality in patients.<br/>
OBJECTIVES: This study intends to study the frequency of occurrence of pulmonary involvement in progressive systemic sclerosis (PSS) and to describe the clinical and radiological picture of pulmonary involvement in PSS.<br/>
MATERIALS AND METHODS: This was a descriptive cross-sectional study. A detailed history, modified Rodnan score, clinical examination, routine investigation, antinuclear antibody, immuno biot, chest X-ray (CXR), pulmonary function test (PFT), and 6 min walk test (6MWT) were performed on all patients. High resolution computed tomography was done on those who consented.<br/>
RESULTS: Hundred subjects with PSS were included in the study; 90 were females and 10 were males. Common presenting complaints were skin thickening in 98% and Raynaud's phenomenon in 98%. Skin thickening of digits beyond metacarpo phalangeal was seen in 98%, face and neck in 92%, and hands in 92%. Chest wall thickening was seen in 40 subjects (40%). 90 (90%) of the studied subjects had pulmonary involvement, longer duration of disease was significantly associated with pulmonary involvement (P &lt; 0.05). Dyspnea, cough, bilateral crepitations, CXR, Borg score, and Rodnan score was found to be significantly associated with severe pulmonary involvement (P &lt; 0.05).<br/>
CONCLUSION: The prevalence of pulmonary involvement in this cohort study was 90%. Almost 1/3(rd) of patients, that is 29 (29%) were detected to have pulmonary involvement despite being asymptomatic for respiratory complaints, hence early screening and evaluation is recommended. PFT and 6MWT are noninvasive, cost-effective, and easily available screening tests which can be used in resource-limited settings.<br/>
</p><p>PMID: 27051100 [PubMed]</p>
]]></description>
<author> Deepa AS, Rachel RP, Ramchandran P, Devaraj U, Arnold SA, Shobha V, D'souza G</author>
<category>Lung India</category>
<guid isPermaLink="false">PubMed:27051100</guid>
</item>
<item>
<title>Quantitative ELISA-Like Immunohistochemistry of Fibroblast Growth Factor 23 in Diagnosis of Tumor-Induced Osteomalacia and Clinical Characteristics of the Disease.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27034530?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://dx.doi.org/10.1155/2016/3176978"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--images.hindawi.com-linkout-hindawi.button.gif" border="0"/></a> <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27034530/"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--www.ncbi.nlm.nih.gov-corehtml-pmc-pmcgifs-pubmed-pmc.gif" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=27034530">Related Articles</a></td></tr></table>
<p><b>Quantitative ELISA-Like Immunohistochemistry of Fibroblast Growth Factor 23 in Diagnosis of Tumor-Induced Osteomalacia and Clinical Characteristics of the Disease.</b></p>
<p>Dis Markers. 2016;2016:3176978</p>
<p>Authors: Hu F, Jiang C, Zhang Q, Shi H, Wei L, Wang Y</p>
<p>Abstract<br/>
Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic disorder and fibroblast growth factor 23 (FGF23) plays a key role in its pathogenesis. This study was conducted to describe a novel FGF23 detecting procedure and describe clinical features of the disease. Fourteen TIO cases were retrieved and FGF23 expression was measured by quantitative ELISA-like immunohistochemistry using formalin-fixed and paraffin-embedded tissues. As summarized from 14 TIO cases, clinical features of TIO were long-standing history of osteomalacia, hypophosphatemia, and urinary phosphate wasting. The associated tumors were mostly benign phosphaturic mesenchymal tumors mixed connective tissue variant (PMTMCT) which could be located anywhere on the body, and most of them could be localized by conventional examinations and octreotide scanning. By quantitative ELISA-like immunohistochemistry, all the 14 TIO cases had high FGF23 expression (median 0.69, 25%-75% interquartile 0.57-1.10, compared with 26 non-TIO tumors of median 0.07, 25%-75% interquartile 0.05-0.11, p &lt; 0.001). The quantitative ELISA-like immunohistochemistry was a feasible and reproducible procedure to detect the high FGF23 expression in formalin-fixed and paraffin-embedded biopsies or specimens. Since TIO was often delay-diagnosed or misdiagnosed, clinicians and pathologists should be aware of TIO and PMTMCT, respectively. <br/>
</p><p>PMID: 27034530 [PubMed - in process]</p>
]]></description>
<author> Hu F, Jiang C, Zhang Q, Shi H, Wei L, Wang Y</author>
<category>Dis Markers</category>
<guid isPermaLink="false">PubMed:27034530</guid>
</item>
<item>
<title>Lesson of the month: selective use of cyclophosphamide in pregnancy for severe autoimmune respiratory disease.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27033023?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"/><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=27033023">Related Articles</a></td></tr></table>
<p><b>Lesson of the month: selective use of cyclophosphamide in pregnancy for severe autoimmune respiratory disease.</b></p>
<p>Thorax. 2016 Mar 31;</p>
<p>Authors: Nelson-Piercy C, Agarwal S, Lams B</p>
<p>Abstract<br/>
We present the cases of two pregnant women who developed severe respiratory compromise in mid pregnancy, one due to rapidly progressive interstitial lung disease associated with mixed connective tissue disease and one secondary to diffuse alveolar haemorrhage due to antiglomerular basement membrane disease. Both were treated with high-dose steroids followed by pulsed intravenous cyclophosphamide. Both women went onto have live births although one baby was growth restricted and preterm. Neither baby had any evidence of congenital abnormalities.<br/>
</p><p>PMID: 27033023 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Nelson-Piercy C, Agarwal S, Lams B</author>
<category>Thorax</category>
<guid isPermaLink="false">PubMed:27033023</guid>
</item>
<item>
<title>Pediatric Mixed Connective Tissue Disease.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27032791?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://dx.doi.org/10.1007/s11926-016-0576-x"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=27032791">Related Articles</a></td></tr></table>
<p><b>Pediatric Mixed Connective Tissue Disease.</b></p>
<p>Curr Rheumatol Rep. 2016 May;18(5):28</p>
<p>Authors: Berard RA, Laxer RM</p>
<p>Abstract<br/>
Pediatric-onset mixed connective tissue disease is among the rare disease entities in pediatric rheumatology and includes features of arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis. Accurate recognition and diagnosis of the disease is paramount to prevent long-term morbidity. Advances in the genetic and immunologic understanding of the factors involved in the etiopathogenesis provide an opportunity for improvements in prognostication and targeted therapy. The development of a multinational cohort of patients with mixed connective tissue disease would be invaluable to provide more updated data regarding the clinical presentation, to develop a standardized treatment approach, disease activity and outcome tools, and to provide data on long-term outcomes and comorbidities. <br/>
</p><p>PMID: 27032791 [PubMed - in process]</p>
]]></description>
<author> Berard RA, Laxer RM</author>
<category>Curr Rheumatol Rep</category>
<guid isPermaLink="false">PubMed:27032791</guid>
</item>
<item>
<title>Laparoscopic Antireflux Surgery in Patients with Connective Tissue Diseases.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27027697?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"/><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=27027697">Related Articles</a></td></tr></table>
<p><b>Laparoscopic Antireflux Surgery in Patients with Connective Tissue Diseases.</b></p>
<p>J Laparoendosc Adv Surg Tech A. 2016 Mar 30;</p>
<p>Authors: Menezes MA, Herbella FA, Patti MG</p>
<p>Abstract<br/>
Different connective tissue diseases (CTDs), such as dermatomyositis, mixed CTD, rheumatoid arthritis, polymyositis, lupus, and Behçet's, may affect the esophagus, impairing its motor function. The muscular atrophy and fibrosis caused by the autoimmune vasculitis and neuronal dysfunction affect the esophageal body and the lower esophageal sphincter, leading to a clinical presentation of dysphagia and gastroesophageal reflux disease (GERD). The belief that the impaired esophageal motility may negatively affect surgical outcome has led to the common recommendation of avoiding laparoscopic antireflux surgery (LARS) for fear of creating or worsening dysphagia. This review focuses on the evaluation of the outcome of LARS in patients with CTD. Specifically, this review shows that the literature on LARS and CTDs is scarce and most studies have a small number of patients and a short follow-up. Furthermore, a subanalysis of the outcome based on the type of CTD or the manometric profile is still elusive. In the setting of these limitations, it appears that results are good and comparable to those of patients with GERD and without a CTD. Morbidity and mortality are insignificant even considering the systemic manifestations of the CTD. LARS should not be denied to patients with CTD and GERD.<br/>
</p><p>PMID: 27027697 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Menezes MA, Herbella FA, Patti MG</author>
<category>J Laparoendosc Adv Surg Tech A</category>
<guid isPermaLink="false">PubMed:27027697</guid>
</item>
<item>
<title>[Connective tissue diseases in adolescents].</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/27000182?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://dx.doi.org/10.1007/s00105-016-3772-8"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=27000182">Related Articles</a></td></tr></table>
<p><b>[Connective tissue diseases in adolescents].</b></p>
<p>Hautarzt. 2016 Mar 21;</p>
<p>Authors: Peitz J, Tantcheva-Poór I</p>
<p>Abstract<br/>
In this article we provide a brief review of systemic lupus erythematosus, juvenile dermatomyositis, systemic scleroderma, and mixed connective tissue disease in adolescents. As skin manifestations often belong to the presenting symptoms and may have a significant impact on the quality of life, dermatologists play an important role in the management of patients with connective tissue diseases. Early diagnosis and therapy onset are crucial for the patients' long-term outcome.<br/>
</p><p>PMID: 27000182 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Peitz J, Tantcheva-Poór I</author>
<category>Hautarzt</category>
<guid isPermaLink="false">PubMed:27000182</guid>
</item>
<item>
<title>Imaging of connective tissue diseases of the head and neck.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/26988082?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"/><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=26988082">Related Articles</a></td></tr></table>
<p><b>Imaging of connective tissue diseases of the head and neck.</b></p>
<p>Neuroradiol J. 2016 Mar 17;</p>
<p>Authors: Abdel Razek AA</p>
<p>Abstract<br/>
We review the imaging appearance of connective tissue diseases of the head and neck. Bilateral sialadenitis and dacryoadenitis are seen in Sjögren's syndrome; ankylosis of the temporo-mandibular joint with sclerosis of the crico-arytenoid joint are reported in rheumatoid arthritis and lupus panniculitis with atypical infection are reported in patients with systemic lupus erythematosus. Relapsing polychondritis shows subglottic stenosis, prominent ear and saddle nose; progressive systemic sclerosis shows osteolysis of the mandible, fibrosis of the masseter muscle with calcinosis of the subcutaneous tissue and dermatomyositis/polymyositis shows condylar erosions and autoimmune thyroiditis. Vascular thrombosis is reported in antiphospholipid antibodies syndrome; cervical lymphadenopathy is seen in adult-onset Still's disease, and neuropathy with thyroiditis reported in mixed connective tissue disorder. Imaging is important to detect associated malignancy with connective tissue disorders. Correlation of the imaging findings with demographic data and clinical findings are important for the diagnosis of connective tissue disorders.<br/>
</p><p>PMID: 26988082 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Abdel Razek AA</author>
<category>Neuroradiol J</category>
<guid isPermaLink="false">PubMed:26988082</guid>
</item>
<item>
<title>Connective tissue diseases and autoimmune thyroid disorders in the first trimester of pregnancy.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/26950897?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://linkinghub.elsevier.com/retrieve/pii/S0165-0378(15)30025-5"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--linkinghub.elsevier.com-ihub-images-PubMedLink.gif" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=26950897">Related Articles</a></td></tr></table>
<p><b>Connective tissue diseases and autoimmune thyroid disorders in the first trimester of pregnancy.</b></p>
<p>J Reprod Immunol. 2016 Apr;114:32-7</p>
<p>Authors: Beneventi F, Locatelli E, Caporali R, Alpini C, Lovati E, Ramoni V, Simonetta M, Cavagnoli C, Montecucco C, Spinillo A</p>
<p>Abstract<br/>
OBJECTIVE: To investigate the rates and coexistence of autoimmune thyroid and connective tissue diseases (CTD) during the first trimester of pregnancy and their influence on pregnancy outcome.<br/>
STUDY DESIGN: A cohort study of 150 women with CTD diagnosed during first trimester of pregnancy and 150 negative controls.<br/>
MAIN OUTCOME MEASURES: Screening of CTD by a self-reported questionnaire, rheumatic and thyroid autoantibody detection, clinical rheumatological evaluation and obstetric outcomes.<br/>
RESULTS: Out of 3852 women screened, 61 (1.6%) were diagnosed with undefined connective tissue disease (UCTD), 28 (0.7%) with major CTD (six rheumatoid arthritis, five systemic lupus erythematosus, eight Sjogren syndrome, five anti-phospholipid syndrome, two systemic sclerosis, one mixed CTD and one monoarticular arthritis) and 61 (1.6%) had insufficient criteria for a diagnosis of a rheumatic disease. The overall prevalence of either thyroid peroxidase (TPO-a) or thyroglobulin (TG-a) autoantibodies detection was 8% (12/150) among controls, 62.3% (38/61) among UCTD and 60.7% (17/28) in women with a major CTD (p&lt;.001 compared to controls for both comparisons). After adjustment for confounders, overall CTDs (major or undefined) (OR=3.54, 95% CI; 1.61-7.78) and TPO-a plus TG-a positivity (OR=2.78, 95% CI;1.29-5.98) were independently associated with increased risks of moderate-severe complications of pregnancy (miscarriage, fetal growth restriction, preeclampsia, delivery before 34 weeks).<br/>
CONCLUSIONS: Rheumatic and thyroid autoantibodies during pregnancy are closely associated. Thyroid antibodies could add to the risk of adverse pregnancy outcome associated with connective tissue diseases.<br/>
</p><p>PMID: 26950897 [PubMed - in process]</p>
]]></description>
<author> Beneventi F, Locatelli E, Caporali R, Alpini C, Lovati E, Ramoni V, Simonetta M, Cavagnoli C, Montecucco C, Spinillo A</author>
<category>J Reprod Immunol</category>
<guid isPermaLink="false">PubMed:26950897</guid>
</item>
<item>
<title>Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study.</title>
<link>http://www.ncbi.nlm.nih.gov/pubmed/26946215?dopt=Abstract</link>
<description>
<![CDATA[<table border="0" width="100%"><tr><td align="left"><a href="http://dx.doi.org/10.1002/acr.22872"><img src="//www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7315-19-Wiley_FullText_120x30_orange.png" border="0"/></a> </td><td align="right"><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=Link&amp;LinkName=pubmed_pubmed&amp;from_uid=26946215">Related Articles</a></td></tr></table>
<p><b>Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study.</b></p>
<p>Arthritis Care Res (Hoboken). 2016 Mar 4;</p>
<p>Authors: Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL</p>
<p>Abstract<br/>
OBJECTIVES: To characterize the epidemiology of mixed connective tissue disease (MCTD) from 1983 to 2014.<br/>
METHODS: An inception cohort of patients with incident MCTD in 1985-2014 in Olmsted County, Minnesota was identified based on comprehensive individual medical record review. Diagnosis of MCTD required fulfillment of at least one of the four widely-accepted diagnostic criteria without fulfillment of classification criteria for other connective tissue diseases. Data were collected on demographic characteristics, clinical presentation, laboratory investigations and mortality.<br/>
RESULTS: A total of 50 incident cases of MCTD were identified (mean age 48.1 years and 84% were female). The annual incidence of MCTD was 1.9 per 100,000 population. Raynaud's phenomenon was the most common initial symptoms (50%) followed by arthralgia (30%) and swollen hands (16%). The diagnosis was frequently delayed with the median time from first symptom to fulfillment of criteria of 3.6 years. At fulfillment of criteria, arthralgia was the most prevalent manifestation (86%) followed by Raynaud's phenomenon (80%), swollen hands (64%), leukopenia/lymphopenia (44%) and heartburn (38%). Evolution to other connective tissue occurred infrequently with 10-year rate of evolution of 8.5% and 6.3% for SLE and SSc, respectively. The overall mortality was not different form the general population with standardized mortality ratio: 1.1 (95% CI, 0.4-2.6).<br/>
CONCLUSIONS: This study was the first population-based study of MCTD to provide a complete picture of epidemiology and clinical characteristics of MCTD. MCTD occurred in about 2 persons per 100,000 per year. Evolution to other connective diseases occurred infrequently and the mortality was not affected. This article is protected by copyright. All rights reserved.<br/>
</p><p>PMID: 26946215 [PubMed - as supplied by publisher]</p>
]]></description>
<author> Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL</author>
<category>Arthritis Care Res (Hoboken)</category>
<guid isPermaLink="false">PubMed:26946215</guid>
</item>

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