Mixed Connective Tissue Disease – Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that often shows overlapping symptoms from three different connective tissue disease. These diseases include: Lupus Disease, Polymyositis and Scleroderma.
What is MCTD?
Some people with MCTD may also have Rheumatoid Arthritis (RA) and Sjögren’s Syndrome. MCTD often affects women under the age of 30 but can also affect people at any age. Signs and symptoms vary but may include Raynaud’s Disease, arthritis (usually pain in the joints in the hands or feet), abnormalities of the heart, lung and skin, kidney disease, muscle weakness, and esophageal dysfunction. The cause of MCTD is currently unknown.
+ Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema) of one or more fingers
+ Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension
+ Cardiovascular disease. Antiphospholipid syndrome can damage heart valves.
+ Neurologic abnormalities (in about 10% of people with MCTD) such as blood vessel narrowing causing “vascular” headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies)
+ Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia)
+ Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency
+ Anemia (decreased hemoglobin and red blood cells) and leukopenia (decreased white blood cells) in 30 to 40% of cases
+ Dysfunction of the esophagus (hypomotility) causing difficulty swallowing
+ Kidney disease
+ Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases
Diagnosis for MCTD
+ Ophthalmologist (to assess eyes while taking Plaquenil/ Hydroxychloroquine and to treat dry eyes associated with Sjogren’s Syndrome)
+ Functional medicine physician
+ Anti-RNP antibodies, high titers for ANA (> 1:1000) with a speckled pattern, absent or negative anti-SM antibodies, absent or negative anti-DNA antibodies, positive rheumatoid factor, and blood tests that show signs of inflammation, including elevated erythrocyte sedimentation rate (ESR) or c-reactive protein (CRP)
- Healthy eating (cooking at home, meal prepping meals and snacks, restricting or reducing the foods that cause the most inflammation, including gluten, dairy, and sugar)
- Exercise (only workouts that increase energy as opposed to leaving you feeling drained or fatigued, such as swimming, hiking, and yoga)
- Sleep (this is so much more crucial than I ever thought – at least 7-8 hours of sleep each night)
- Stress management (with exercise, socializing, reading, meditating, reflective yoga, and prayer)
- Supplements (such as Vitamin D3/K2, omega 3 fatty acids, vitamin c, zinc, and magnesium)
- Take prescribed medication regularly (I have been on Hydroxychloroquine (plaquenil) for over 10 years and may not be able to take it much longer due to the side effects that can occur in the eye. I am unsure about taking the other medications prescribed for MCTD, such as methotrexate. I am working with my rheumatologist to get to a place where I can decrease and then eventually stop taking plaquenil and manage MCTD with a healthy lifestyle. I think it is very important to work with your rheumatologist before stopping any prescribed medications as these medications may be preventing your immune system from causing more damage to your body, such as kidney failure.)
- Plaquenil/ Hydroxychloroquine
- Vitamins/minerals (D3/K3, C, zinc)
- Essential fatty acids (DHA/EPA)
Get your Questions Answered about MCTD
ABOUT |Meghan Pillow, MSN, RN, is a freelance medical writer, researching and writing about patient safety issues in health care, as well as a college health nurse who focuses on the health, safety, wellbeing, and academic success of students. She also has worked as a certified critical care nurse at a community hospital 11 years. She earned a bachelor of science in nursing (BSN) from Loyola University Chicago and a master of science in nursing (MSN) from Chamberlain University; she is currently working to complete the post-master’s Family Nurse Practitioner (FNP) certificate at North Park University, in Chicago. Meghan was diagnosed with Mixed Connective Tissue Disease about 12 years ago while in the accelerated BSN program to become a nurse
AUTOIMMUNE DISEASES | Mixed Connective Tissue Disease