Mixed Connective Tissue Disease

Mixed connective tissue disease, also known as MCTD, is a rare autoimmune disorder. It is characterized by some specific features which can be commonly seen in three different connective tissue disorders: syntemic lupus erythematosus, scleroderma, and polymyositis. There are some cases when symtoms of rheumatoid arthritis. This disease can appear at any age. However, the medical experience shows that it is most often encountered in women under the age of 30. There is a wide range of signs and symptoms which can indicated this disease, but they may also include Raynaud’s phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. Even though it is better to prevent the cause than treat the symptoms, in this case the causes are still not known very well.  There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.

Symptoms

The medical literature mentions the following early signs and symptoms of mixed connective tissue disease:

  • General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever.
  • Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red.
  • Swollen fingers or hands. Some people experience swelling to the point where the fingers resemble sausages.
  • Muscle and joint pain. Joints may become deformed, similar to what occurs with rheumatoid arthritis.
  • Rash. Red or reddish brown patches may appear over the knuckles.

Causes

As we mentioned above, there exact causes which can trigger the mixed connective tissue disease are still unknown. This is an autoimmune disorder which means that it is strictly connected to your immune system.  In autoimmune disorders, your immune system — responsible for fighting off disease — mistakenly attacks healthy cells.

In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Researches are still being made in order to identify proteins produced by the immune system that might cause mixed connective tissue disease.

Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in causing the disease remains unclear.

Complications

Mixed connective tissue disease is not an easy disorder. It can lead to serious complications, including:

  • High blood pressure in the lungs (pulmonary hypertension) which is the main cause of death in people with mixed connective tissue disease.
  • Interstitial lung disease can cause scarring in your lungs, which affects your ability to breathe.
  • Heart disease. Parts of the heart may become enlarged, or inflammation may occur around the heart. Heart disease is the cause of death in about 20 percent of people with mixed connective tissue disease.
  • Kidney damage. About one-fourth of people with mixed connective tissue disease develop kidney problems. Sometimes, that damage can lead to kidney failure.
  • Digestive tract damage. You may develop abdominal pain and problems with digesting food.
  • Anemia. About 75 percent of people with mixed connective tissue disease have iron deficiency anemia.
  • Tissue death (necrosis). People with severe Raynaud’s phenomenon can develop gangrene in the fingers.
  • Hearing loss. Often unrecognized, hearing loss may occur in as many as half the people with mixed connective tissue disease.

Lifestyle and home remedies

You can make some changes of lifestyle in order to prevent this disease as much as possible:

  • Nonsteroidal anti-inflammatory drugs. Medications, such as ibuprofen or naproxen sodium, may help relieve the pain and inflammation if your condition is mild.
  • Protecting hands from cold. Wearing gloves and taking other measures to keep your hands warm can help prevent Raynaud’s phenomenon.
  • Smoking cessation. Smoking causes blood vessels to narrow, which can worsen the effects of Raynaud’s phenomenon.
  • Reducing stress. Raynaud’s phenomenon is often triggered by stress. Relaxation techniques — such as slowing and focusing on your breathing — can help reduce your stress levels.

Diagnosis

As soon as you notice some of the signs and symptoms above, you should immediately see your doctor. He may ask you do the following tests:

  • Physical exam to check for swollen hands and painful, swollen joints
  • Blood test, which can determine whether you have a certain antibody in your blood that is associated with mixed connective tissue disease

Treatment

 

The type of medication your doctor might prescribe will depend on the severity of your disease and your symptoms. Medications can include:

  • Corticosteroids. Drugs, such as prednisone, can help prevent your immune system from attacking healthy cells and suppressing inflammation. Side effects can include mood swings, weight gain, high blood sugar, increased blood pressure, weakened bones and cataracts.
  • Antimalarial drugs. Hydroxychloroquine can treat mild mixed connective tissue disease and might prevent flare-ups.
  • Calcium channel blockers. Medications, such as nifedipine and amlodipine, help relax the muscles in the walls of your blood vessels and may be used to treat Raynaud’s phenomenon.
  • Other immuno-suppressants. Your doctor might prescribe other medications based on your specific signs and symptoms. For example, if they’re similar to those of lupus, your doctor might recommend medications typically prescribed for people with lupus.
  • Pulmonary hypertension medications. Bosentan or sildenafil may be prescribed.

References:

https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/diagnosis-treatment/drc-20375152

http://www.msdmanuals.com/home/bone,-joint,-and-muscle-disorders/autoimmune-disorders-of-connective-tissue/mixed-connective-tissue-disease-mctd

https://www.medicinenet.com/mixed_connective_tissue_disease/article.htm

https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease

http://www.arthritis.org/about-arthritis/types/mixed-connective-tissue-disease/

 

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