ERN ReCONNET
Disease Info
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease (MCTD)
Mixed connective tissue disease (MCTD) also known as Sharp’s syndrome was described for the first time in 1972 by Sharp GC. and concerns a systemic autoimmune disease typified by overlapping features between two or more systemic autoimmune diseases (primarily Systemic Lupus Erythematosus, Systemic Sclerosis, Sjögren’s syndrome, Rheumatoid Arthritis and Polymyositis) along with the presence of antinuclear antibodies in very high serum dilutions antibodies targeting the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP).
In mixed connective tissue disease, the symptoms of the different diseases usually don’t appear all at once. Instead, they tend to occur in sequence over a number of years, which can make diagnosis more complicated.
Initial symptoms of mixed connective tissue disease can include non-specific complains such as general feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever. Polyarthritis, Raynaud’s phenomenon, puffy fingers, lung involvement and esophageal dysmotility are the most frequently reported symptoms during the course of the disease. Moreover, in recent years a growing interest has been focused on severe organ involvement such as pulmonary arterial hypertension and interstitial lung disease which can accrue during the long-term follow-up and can still significantly influence disease prognosis.
Generally accepted classification criteria and rrecommendations on MCTD diagnosis (diagnostic criteria), on initial and follow-up evaluations and treatment are lacking.
Marzena Olesińska
Disease Coordinator
Disease Coordinator
Vera Guimarães
ePAG representative
ePAG representative
Benjamin Chaigne
Benjamin Chaigne
Disease Coordinator
Disease Coordinator
LIST OF USEFUL REFERENCES
1. 2019 Diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoimmune diseases
Tanaka Y, Kuwana M, Fujii T, Kameda H, Muro Y, Fujio K, Itoh Y, Yasuoka H, Fukaya S, Ashihara K, Hirano D, Ohmura K, Tabuchi Y, Hasegawa H, Matsumiya R, Shirai Y, Ogura T, Tsuchida Y, Ogawa-Momohara M, Narazaki H, Inoue Y, Miyagawa I, Nakano K, Hirata S, Mori M.
Mod Rheumatol. 2021 Jan;31(1):29-33.
2. Recommendations for screening and detection of connective tissue disease-associated pulmonary arterial hypertension
Khanna D, Gladue H, Channick R, Chung L, Distler O, Furst DE, Hachulla E, Humbert M, Langleben D, Mathai SC, Saggar R, Visovatti S, Altorok N, Townsend W, FitzGerald J, McLaughlin VV; Scleroderma Foundation and Pulmonary Hypertension Association.
Arthritis Rheum. 2013 Dec;65(12):3194-201.
Tanaka Y, Kuwana M, Fujii T, Kameda H, Muro Y, Fujio K, Itoh Y, Yasuoka H, Fukaya S, Ashihara K, Hirano D, Ohmura K, Tabuchi Y, Hasegawa H, Matsumiya R, Shirai Y, Ogura T, Tsuchida Y, Ogawa-Momohara M, Narazaki H, Inoue Y, Miyagawa I, Nakano K, Hirata S, Mori M.
Mod Rheumatol. 2021 Jan;31(1):29-33.
Khanna D, Gladue H, Channick R, Chung L, Distler O, Furst DE, Hachulla E, Humbert M, Langleben D, Mathai SC, Saggar R, Visovatti S, Altorok N, Townsend W, FitzGerald J, McLaughlin VV; Scleroderma Foundation and Pulmonary Hypertension Association.
Arthritis Rheum. 2013 Dec;65(12):3194-201.
2. Sharp GC et al., Diagnosis criteria for classification of MCTD. In Kasukawa R, Sharp GC., Mixed connective tissue disease and antinuclear antibodies. Amsterdam, Elsevier Science. 1987. 151-178.
3. Alarcon-Segovia D et al., Classification and diagnosis criteria for mixed connective tissue disease. In Kasukawa R, Sharp GC. Mixed connective tissue disease and antinuclear antibodies. Amsterdam, Elsevier Science. 1987. 33-40.
4. Kasukawa R et al., Mixed connective tissue disease and antinuclear antibodies. Amsterdam, Elsevier Science. 1987. 357.
MCTD centres in ERN ReCONNET
Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, Finland (ReCONNETFIN) (adult and paedriatric)
- AOU Careggi, Florence
- AOU Meyer di Firenze (paediatric)
- Foundation IRCCS CA’Granda Ospedale Maggiore polyclinic – Milan
- ASST Centro Specialistico Ortopedico Traumatologico Gaetano Pini (Presidio Pini)
- AO Padua
- AOU Pisan
- AOU Policlinico Umberto I di Roma
- Fondazione Policlinico Tor Vergata Roma
- AOU S. Giovanni di Dio e Ruggi D’Aragona
- A.S.L. Torino – Hub S. Giovanni Bosco
- Azienda Ospedaliera Universitaria Integrata di Verona
University Medical Centre Ljubljana (paediatric)
Hospital Clínic de Barcelona y Hospital de Sant Joan de Déu (adult and paediatric)