They always tell doctors, “When you hear hoofbeats, think horses, not zebras.” I jokingly tell my doctors, “When it comes to my health you have to think past horses, past zebras, cause I just might be a unicorn.”
I live with undifferentiated tissue disease (UCTD) but up until recently, I thought I had mixed connective tissue disease (MCTD). Whereas MCTD presents similarly to lupus, scleroderma and/or polymyositis, UCTD does not, though it does show signs of connective tissue disease. Connective tissues are the framework for your entire body. Your eyes, heart, joints, stomach, lungs, etc. are made of connective tissue.
MCTD was first recognized in 1972. It has clinical features commonly seen in systemic lupus erythematosus, systemic sclerosis and polymyositis, and can cause high quantities of antinuclear antibodies (ANAs) and antibodies to ribonucleoprotein (anti-RNP). It was discovered when a group of patients had an interesting overlap of symptoms of the diseases above, plus the presence of antibodies.
For those interested in learning more about MCTD, here are five things you should know.
1. Mixed connective tissue disease is more common in women.
According to the National Institute of Health, mixed connective tissue disease has been reported in all races and doesn’t occur more often in any racial or ethnic population. It does, however, affect women more than men. Women are three times more likely to have MCTD. It can affect people of any age, but the typical age of onset is between 15-25 years old.
2. The first symptom you might experience is discoloration of your fingers and/or toes.
Some people experience Raynaud’s phenomenon months or years before their mixed connective tissue disease symptoms appear. Raynaud’s phenomenon causes your toes, fingers and sometimes even your nose to turn from white to blue then red due to blood vessel constriction caused by temperature changes or stress.
Once MCTD symptoms develop, they may include pain in multiple joints, muscle weakness, fevers and fatigue. Other symptoms can include:
- Fluid buildup in the tissue of the hands
- Lupus-like rashes
- Hair loss
- Dysfunction of the esophagus (hypomotility)
- Abnormal lung functioning and/or breathing difficulties
- Kidney disease
- Headaches, seizures and other neurologic abnormalities
3. Bloodwork can help you get a diagnosis.
MCTD is diagnosed through a thorough evaluation of symptoms and bloodwork. Your doctor will look for abnormally high levels of antibodies to the U1 small nuclear ribonucleoprotein (anti-RNP).
Your doctor will also ask if you have symptoms similar to those caused by lupus erythematosus, systemic sclerosis and polymyositis.
4. There is no cure, but symptoms can be managed with medication.
My connective tissue disease is primarily treated with steroids, NSAIDs and immunosuppressants, which is the typical treatment for MCTD.
What medications you are prescribed will depend on your symptoms. If you have Reynaud’s phenomenon, for example, you will be given vasodilators. If you have lung disease-related symptoms, you may be put on immunosuppression. MCTD flares may be treated with corticosteroids.
The best treatment plan will depend on your symptoms.
5. There is hope for people with rare diseases.
Whether I am truly the only person with a body like mine, or there are hundreds of other people like me. I want to reiterate that there is hope. So many people think a life full of illness and pain can’t be a beautiful life, and they are wrong. A life with illness and pain can still be an extraordinary life. I know that because I am living it.
References (click to expand)
- MCTD vs. UCTD, What Is the Difference? (n.d.). MedicineNet. Retrieved from https://www.medicinenet.com/mctd_vs_uctd/views.htm
- Mixed connective tissue disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease
- Mixed Connective-Tissue Disease: Practice Essentials, Pathophysiology, Etiology. (n.d.). Retrieved from https://emedicine.medscape.com/article/335815-overview