Mixed connective tissue disease
Evidence: Antibody
Names
Mixed connective tissue disease
MCTD
Sharp Syndrome
Description
Mixed connective tissue disease (MCTD) is an autoimmune disorder that shares symptoms with other connective tissue diseases, including polymyositis/dermatomyositis, systemic lupus erythematosus (SLE), scleroderma, and autoimmune rheumatic diseases. Examples of commonly shared symptoms are abnormally cold hands, joint pain, organ problems, and feelings of malaise. However, one feature unique to MCTD is the presence of anti-RNP antibodies in the blood. Raynaud’s phenomenon and high blood pressure in the lungs are also more common in MCTD, while kidney symptoms are milder. Some complications can be fatal, but treatments are available to manage both mild and life-threatening symptoms. [Hajas et al., 2013].
Patient Groups
Prevalence
US Cases: 7,800 - 11,000 [Gunnarsson 2011]. Adult population estimate.
Typical Age of onset
A study showed onset at 48 years of age.
Source: Sapkota and Khalili (2020)
Symptoms
Chest pain
Cold fingers/toes with white or blue skin coloring (Raynaud’s Phenomenon)
Facial nerve pain (trigeminal neuropathy)
Facial reddening (erythema)
Facial symmetric “butterfly” rash (malar rash)
Joint pain (polyarthritis)
Muscle weakness
Muscle inflammation (myositis)
Skin stiffness of the fingers (acrosclerosis)
Skin thickening (sclerodactyly) of the fingers
Swollen hands
