Mixed Connective Tissue Disease (MCTD)

MCTD develops as RNP (ribonucleoprotein) molecules are attacked by antibodies, inhibiting the production of messenger RNA. The body’s fibers that help to establish its framework and physical support (connective tissues) are also attacked.

Often referred to as an overlap disease, MCTD presents with signs and symptoms that can also look like several other conditions (including lupus, scleroderma, and polymyositis). It is a disease that presents different symptoms of different diseases over the course of several years but typically afflicts the hands early on. 

Red/reddish-brown rash patches over the knuckles, increased fatigue/mild fever, Raynaud’s phenomenon (cold/numb fingers/toes), swelling of the fingers or hands, muscle and joint pain/swelling/deformities, organs (kidneys, heart, and lungs) can be afflicted later in the progression of the disease, chest pain, stomach inflammation, dyspnea (trouble with breathing), high erythrocyte sedimentation rate, and dry mouth/eyes.

Rheumatoid arthritis, Sjogren’s syndrome, systemic lupus erythematosus, scleroderma, and polymyositis. 

While MCTD can develop in anyone, females under the age of 50 are most commonly afflicted.

• Subacute cutaneous lupus erythematosus in a patient with mixed connective tissue disease (2023)
• 2019 diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the minitry of health, labor, and welfare for systemic autoimmune diseases (2021)
• Clinical and immunological profile of mixed connective tissue disease and a comparison of four diagnositic criteria (2020)
• Epigenome-wide comparative study reveals key differences between mixed connective tissue disease and related systemic autoimmune diseases (2019)

Presha’s Story: Being Okay with Not Being Okay

Claire’s Story: Gender Bias & The Long Road to Diagnosis

Rahel’s Story: MCTD, Raynaud’s, & Living with Gratitude