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Mixed Connective Tissue Disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Complications.

Feb 5, 2024

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Causes Of Mixed Connective Tissue Disease

Symptoms Of Mixed Connective Tissue Disease

Risk Factors Of Mixed Connective Tissue Disease

Diagnosis Of Mixed Connective Tissue Disease

Treatment Of Mixed Connective Tissue Disease

Complications Of Mixed Connective Tissue Disease

Mixed Connective Tissue Disease

Mixed connective tissue disease (MCTD) is a condition that has many signs and symptoms with other illnesses, such as lupus, scleroderma, and polymyositis. One prevalent condition among many people with this rare disease is Sjogren's syndrome. This is the reason why overlap disease is occasionally used to refer to mixed connective tissue disease (MCTD).

The symptoms of the various diseases typically do not appear at the same time in mixed connective tissue disease. Rather, they typically happen across several years, which could make diagnosis more difficult.

Frequently, hand symptoms and signs manifest first. Fingers exposed to cold weather can swell, turn white, and numb. Later on, other organs that could be impacted include the kidneys, lungs, and heart.

There is no recognised treatment for mixed connective tissue illness. The treatment plan is determined by the organs affected and the degree of the illness.


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Causes Of Mixed Connective Tissue Disease

Mixed connective tissue disease is categorised as an autoimmune disease even if its cause is uncertain. In autoimmune disorders, your immune system, which protects you from disease, unintentionally attacks healthy cells.

When you have disorders affecting the connective tissues, your immune system attacks the fibres that provide your body with support and structure. Some people may have a family history of mixed connective tissue disease. However, the exact role that heredity plays in the condition is still unknown.

Also Read: Soto’s Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prevention and Complications

Symptoms Of Mixed Connective Tissue Disease

One or more of the following early symptoms may be present in mixed connective tissue disease:

  • A general sensation of being unwell: Possible signs of this include low-grade fever and increased tiredness.
  • Freezing, numb fingers or toes are a hallmark of Raynaud's syndrome. In reaction to stress or cold, your fingers or toes may turn white, then purple-blue. When they warm up, fingers or toes turn red.
  • Swelling of the hands or fingers: Certain individuals suffer from finger oedema.
  • Muscle and joint aches: Joints may swell, become inflamed, and develop abnormalities, much like in rheumatoid arthritis.
  • Rash: Crimson or reddish-brown patches may appear on the knuckles.

Also Read: Angelman Syndrome: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and Complications

Risk Factors Of Mixed Connective Tissue Disease

Mixed connective tissue disease can strike anyone at any age. However, women under 50 appear to be most affected by it.

Also Read: Ehlers-Danlos Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prevention and Complications

Diagnosis Of Mixed Connective Tissue Disease

During the physical examination, your doctor may check you for painful, swollen hands and joints. It can also be required to have a blood test to check for a particular antibody connected to mixed connective tissue disease.

Also Read: Pulmonary Hypertension: Causes, Symptoms, Risk Factors, Diagnosis, Classification, Treatment and Complications

Treatment Of Mixed Connective Tissue Disease

There is no recognized treatment for mixed connective tissue illness. Medications can help manage signs and symptoms.

The type of medication prescribed will depend on the severity of your condition and your symptoms. Medications could include:

  • Steroids: One drug that can help reduce inflammation and prevent your immune system from attacking healthy cells is prednisone (Deltasone, Rayos). Corticosteroids can cause mood swings, weight gain, high blood sugar, high blood pressure, weakening of the bones, and cataracts.
  • Antimalarial drugs: Hydroxychloroquine, or Plaquenil, is used not only to treat moderate mixed connective tissue disease but also to prevent flare-ups.
  • Calcium channel blockers: This class of medications, which includes nifedipine (Adalat CC, Procardia) and amlodipine (Norvasc), may be used to treat Raynaud's phenomenon.
  • Additional immunosuppressive medication: Your doctor might suggest more drugs based on your symptoms and warning signs. Your doctor might, for example, propose medications typically prescribed for lupus patients if your symptoms are similar to those of the illness.
  • Medications to treat pulmonary hypertension: Prescribing sildenafil (Revatio, Viagra) or bosentan (Tracleer) can be required.

Also Read: Nephritic Syndrome And Nephrotic Syndrome

Complications Of Mixed Connective Tissue Disease

Mixed connective tissue disease can have serious implications, some of which could be fatal. Complications include:

  • High blood pressure in the lungs is referred to as pulmonary hypertension. One of the main causes of mortality for people with mixed connective tissue disease is this condition.
  • Interstitial lung disease: Lung scarring from this wide range of diseases can cause breathing problems.
  • Heart-related diseases: Certain parts of the heart may expand, or the surrounding tissue may become inflamed. Heart failure is a potential occurrence.
  • Damage to the kidneys: renal involvement is usually modest but can result in renal failure in about 25% of patients with mixed connective tissue disease.
  • Damage to the digestive system: The digestive system is frequently impacted by mixed connective tissue disease. You may experience difficulties with food digestion and swallowing, as well as stomach ache. 
  • Anaemia: The iron-deficient anaemia rate in patients with mixed connective tissue disease is approximately 75%. death of tissue. Finger gangrene can occur in patients with severe Raynaud's illness. 
  • Loss of hearing: Nearly half of the individuals with mixed connective tissue disease in one small research reported having hearing loss. To fully comprehend this association, more research is required on harm to nerves. 
  • Sjogren syndrome may impact the trigeminal nerve, which transmits sensation from your face to your brain. For those suffering from trigeminal neuralgia, even very light facial stimulation, like cleaning your teeth or applying makeup, can cause sharp pain.

Also Read: Pathology of Hepatitis: Acute, Chronic and Liver Cirrhosis - NEET PG Pathology

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