Other overlap syndromes

Description

mixed connective tissue disease: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus , scleroderma , and polymyositis . Some affected people may also have symptoms of rheumatoid arthritis . Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) , corticosteroids and immunosuppresivedrugsmay help manage the symptoms.

Data source
FinnGen phenocode M13_OVERLAP
Hospital Discharge registry ICD-10: M351
Cause of Death registry ICD-10: M351
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 3492
GWAS catalog 0007374
MESH D008947
SNOMED CT 398049005

Key figures

Sex All Female Male
Number of individuals 129 95 34
Unadjusted prevalence (%) 0.1 0.13 0.06
Mean age at first event (years) 54.91 53.7 58.3
Median number of events / individual 3 3 2

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 56.59 56.84 55.88
Case fatality at 5-years (%) 6.2 6.32 5.88

Associations