Mixed Connective Tissue Disease : Causes-Symptoms-Diagnosis-Treatment

What Is Mixed Connective Tissue Disease(MCTD)?

Mixed connective tissue disease (MCTD) is an extraordinary autoimmune ailment that is characterized with the aid of capabilities commonly visible in three unique connective tissue issues: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have signs and symptoms of rheumatoid arthritis. Signs and symptoms vary but may also encompass Raynaud's phenomenon; arthritis; heart, lung and pores and skin abnormalities; kidney ailment; muscle weakness, and disorder of the esophagus. The purpose of MCTD is presently unknown.

What Is Mixed Connective Tissue Disease(MCTD)?
Mixed Connective Tissue Disease


Mixed connective tissue disease (MCTD) is a unprecedented autoimmune sickness recognized whilst a particular antibody referred to as anti-U1-ribonucleoprotein is gift, and there are capabilities of as a minimum two connective tissue diseases, inclusive of systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse signs and symptoms upon presentation and the adjustments in symptoms over the years. Non-steroidal anti inflammatory drugs, steroids, and immunosuppressive agents are mainstays of remedy. This pastime opinions the assessment and remedy of MCTD and highlights the interprofessional team's position in managing patients with this circumstance.

  1. Medical And Anatomical Concept Of The Human Body

Medical terms

  • Mixed connective tissue disease (MCTD) has signs and symptoms that are a combination of disorders, primarily lupus and polymyositis. Many people with MCTD also have Sjogren's syndrome. For this reason MCTD is sometimes called an overlapping disease.

  • Mixed connective tissue disease usually has a number of different symptoms that may not show up all at once. It can be difficult to diagnose this condition because the symptoms may develop over time.

  • Early symptoms often involve the hands. Fingers can get swollen and the fingertips can turn white and numb from exposure to cold. Later symptoms can affect other organs, such as the lungs, heart, and kidneys.

  • There is no cure for mixed connective tissue disease. Treatment depends on how severe the disease is and the areas affected.

  • Mixed connective tissue sickness (MTCD) is an uncommon systemic inflammatory rheumatic situation. MCTD is a particular subset of the broader class of rheumatic “overlap syndromes”, a time period used to explain while a patient has functions of more than one classic inflammatory rheumatic disease. These traditional rheumatic illnesses encompass systemic lupus erythematosus, polymyositis, scleroderma and rheumatoid arthritis. Individuals with an overlap syndrome may, however, need not meet complete diagnostic standards for one (or a couple of) conventional rheumatic disorders. MCTD is distinguished from other overlap syndromes by using a laboratory end result: MCTD sufferers have rheumatic overlap syndrome plus anti-RNP antibodies. Additionally, it has been proposed that the term “MCTD” be reserved for sufferers with clinical capabilities that encompass as a minimum one of the following “commonplace manifestations”: Raynaud’s phenomenon, puffy palms or swollen hands.

  • Mixed connective tissue disease is another rare autoimmune disorder that has symptoms similar to many other diseases Symptoms include painful and swollen joints extreme fatigue rashes and lung inflammation Treatment for mixed connective tissue disease often includes a combination of medications such as corticosteroids (e.g. prednisone) and methotrexate to help alleviate symptoms and slow the progression of the disease People with this condition may also benefit from physical therapy and lifestyle changes such as losing weight if they are overweight.

is an autoimmune disorder that affects how the body produces collagen Mixed connective tissue disease (MCTD) is a type of connective tissue disease in which both collagen and inflammatory diseases are present Collagen is a protein found throughout the body and is needed to help keep the skin joints ligaments and other tissues strong and flexible MCTD can affect the skin muscles blood vessels bones or internal organs The symptoms of MCTD can vary greatly and may include joint pain headaches or stomach problems The severity of symptoms can also change over time The exact cause of MCTD is unknown but it is thought to be triggered by various factors such as genetics environmental toxins or stress There.

Mixed connective tissue ailment has functions of 3 different connective tissue diseases:

  • Systemic lupus erythematosus (SLE): An inflammatory sickness which could have an effect on many one-of-a-kind organs. Symptoms consist of fever, fatigue, joint pains, weakness, and skin rashes on the face, neck, and upper body.

  • Scleroderma: Abnormal thickening and hardening of the skin, underlying tissue, and organs.

  • Polymyositis: Muscle inflammation (swelling).

About 25% of sufferers with a connective tissue disorder (inclusive of dermatomyositis, rheumatoid arthritis, Sjogren's syndrome, and the three diseases listed above), broaden any other connective tissue ailment over the path of several years. This is known as an "overlap syndrome."

Symptoms Mixed connective tissue disease(MCTD)

MCTD symptoms won't all show up at the same time. They can seem over numerous years. Early-stage symptoms can be visible to your fingers, in which palms turn puffy and fingertips turn white whilst it receives bloodless. Symptoms can range from individual to person.

Some signs that someone has mixed connective tissue disease may include:

  • General feeling of being unwell.This can cause increased fatigue and a mild fever.

  • If you have cold or numb fingers or toes, it is probably because you are feeling cold.When you are responding to cold or stress, your fingers or toes might turn white. After warming them, they will turn red.

  • Swollen fingers or hands.Some people get swelling in their fingers.

  • Muscle and joint pain.Joints can become inflamed, swollen, and deformed in a way similar to arthritis.

  • Rash.If patches of red or reddish brown appear over the knuckles, that means you have an infection. Go to the doctor to get treatment.

When to see a doctor

If you have any signs or symptoms that interfere with your daily routine, such as having been diagnosed with lupus or another connective tissue disease, see your doctor.

Causes Mixed connective tissue disease(MCTD)

MCTD is because of immune reactions in opposition to self (autoimmunity). The anti-RNP immune reaction that allows defining the disorder also appears to mediate some of the harm it induces. The RNP molecules are normally inside the nucleus of all human cells, wherein they assist to fabricate messenger RNA, and wherein the immune system can't locate them. However, in useless or dying cells, RNP molecules can become exposed to the immune gadget. Since RNP molecules are nearly the same in humans to their counterparts in single celled organisms without immune systems, the human immune device may be fooled into responding to RNP as if it were from a risky invader.

Several genes that control the immune device’s responsiveness to invaders and the potential to hide or damage lifeless cell debris have an effect on the danger of growing MCTD. Prior immune exposures to other things that look like RNP (which includes previous viral infections) may also boost the hazard. Additional consequences of heredity and the environment at the danger for developing MCTD and on its manifestations and severity are probable.

Mixed connective tissue disease is an autoimmune disorder in which the cause isn't known. In autoimmune disorders, the immune system, which is responsible for fighting off disease, mistakenly attacks healthy cells.

In connective tissue diseases, your immune system attacks the fibers that make up your body's framework. Some people with mixed connective tissue disease have a family history of the condition. But it's still unclear how genetics play a role in the disease.

Risk factors Mixed connective tissue disease(MCTD)

Mixed connective tissue disease is often seen in people of any age, but it is more common in women under 50 years old.

Can you live a normal life with mixed connective tissue disease?

Mixed connective tissue disease (MCTD) is an uncommon autoimmune disorder that causes inflammation in the connective tissue Connective tissue is a type of tissue that connects and supports other tissues in the body It’s found throughout the body including joints muscles and tendons MCTD typically affects women who are between the ages of 15 and 45. Symptoms can vary from mild to severe They include joint pain, muscle weakness and fatigue.

What foods should be avoided with mixed connective tissue disease?

Diets should be low in the following foods with mixed connective tissue disease: Artificial sweeteners (such as aspartame) Bran and bran products Egg yolks Foods containing gluten (wheat barley and rye) Milk and milk products Peanuts and peanut butter Soybean-based products (soy sauce tofu tempeh).

What vitamins are good for connective tissue?

  • Vitamin A helps to keep the skin hair nails and eyes healthy It also helps to maintain healthy teeth bones and cells Vitamin C is a key nutrient for connective tissue because it works with vitamin E in the formation of collagen in the body Collagen is an important protein found in cartilage tendons ligaments and joints.

  • Many vitamins and minerals are vital for the health of connective tissue which is found in joints skin tendons muscles and bones Vitamin A is essential for proper bone formation and maintaining healthy bone cells Vitamin C helps to maintain collagen in connective tissues while vitamin E acts as an antioxidant that prevents cell damage caused by free radicals Vitamin D helps the body absorb calcium which is essential for building healthy bones.

How do you reverse connective tissue disease?

Step 1 Eat a healthy diet that is high in essential fatty acids such as those contained in fish flaxseed and nuts Essential fatty acids help to create healthy cell membranes and reduce inflammation Step 2 Consider seeking treatment from a doctor or naturopath who can recommend nutritional supplements that are helpful for reversing connective tissue disease Supplements like glucosamine sulfate vitamin C hyaluronic acid n-acetylglucosamine and chondroitin sulfate have all been shown to help slow down the progression of osteoarthritis Step 3 Learn how to stretch your joints properly Stretching helps to keep your joints flexible and sturdy.

What does a MCTD flare feel like?

Myalgic encephalomyelitis or ME/CFS affects more than 1 million Americans and can cause a range of debilitating symptoms Most people who have this systemic illness experience extreme fatigue and joint pain.

Complications Mixed Connective Tissue Disease

Mixed connective tissue disease can lead to serious complications, some of which can be deadly. Complications may include:

  • High blood pressure in the lungs can lead to pulmonary hypertension.Mixed connective tissue disease is a condition that can be fatal.

  • Interstitial lung disease.This group of disorders can cause scarring in your lungs which affects your ability to breathe.

  • Heart disease.Parts of the heart can enlarge or inflammation can occur around the heart. This can lead to heart failure.

  • Kidney damage.About one-fourth of people with mixed connective tissue disease develop kidney problems. Kidney involvement can be mild, but it can lead to kidney failure.

  • Digestive tract damage.Common connective tissue disease affects the digestive system. You might have pain in your abdomen and problems with swallowing and digestion of food.

  • Anemia.Many people with mixed connective tissue disease have iron deficiency anemia.

  • Tissue death.People with severe Raynaud's disease may develop gangrene in their fingers.

  • Hearing loss.In one small study, hearing loss was reported in almost half the patients with mixed connective tissue disease. More research is needed to understand this association.

  • Nerve damage.If you have Sjogren syndrome, your nerve can be affected that transmits feeling from your face to your brain (the trigeminal nerve). If you experience mild stimulation, such as when brushing your teeth or putting on makeup, that can cause a jolt of severe pain.

Diagnosis Mixed connective tissue disease(MCTD)

During the physical exam, your doctor may check for swollen hands and joints. You might also need a blood test to check for an antibody that is associated with mixed connective tissue disease.

MCTD may be identified based upon a thorough clinical evaluation, an in depth affected person history, identification of feature findings and specialized tests consisting of blood checks that reveal abnormally excessive ranges of antibodies to the U1 small nuclear ribonucleoprotein (anti-RNP). Several sets of diagnostic criteria for MCTD have been posted that have similar performance characteristics. After prognosis, ongoing surveillance for the ability for past due-rising lung ailment is normally done; serial pulmonary characteristic testing is regularly a factor of this evaluation.

There are 4 capabilities that point to MCTD rather than another connective tissue ailment:

  • High concentrations in blood exams of a particular antibody referred to as anti-U1-RNP (ribonucleoprotein).

  • An absence of the severe kidney and central nervous system problems often found in SLE patients.

  • Severe arthritis and pulmonary high blood pressure, which might not be found in both SLE or scleroderma sufferers.

  • Raynaud phenomenon, and swollen arms or puffy palms, which arise in approximately 25% of SLE patients.

Treatment Mixed connective tissue disease(MCTD)

Treatment for MCTD should be tailor-made to each unique affected person, depending on the organs which might be affected and how intense the circumstance is. Some patients may additionally want remedy only at some stage in flare-ups, at the same time as others may require constant care.

MCTD is the end result of an aggregate of connective tissue illnesses. The treatment can vary depending on the type of connective tissue diseases you have, how extreme they are, and the way fast the condition advances. Doctors will normally prescribe special kinds of medication. 


People with a moderate form of MCTD may also need handiest low doses of non-steroidal inflammatory capsules.  These medicines assist in relieving pain and irritation. Anti-malarial drugs or low-dose corticosteroids will also be prescribed for slight varieties of MCTD.

Mixed connective tissue disease is not a curable condition. However, medications can help manage the signs and symptoms.

The type of medication you will receive will depend on the severity of your disease and your symptoms. Medications can include:

  • Corticosteroids.Prednisone (Deltasone Rayos) can help prevent your immune system from attacking healthy cells and reduce inflammation. Side effects of corticosteroids can include mood swings, weight gain, high blood sugar, increased blood pressure, weakened bones, and cataracts.

  • Antimalarial drugs.Hydroxychloroquine (Plaquenil) can treat mild mixed connective tissue diseases and might prevent flare-ups.

  • Calcium channel blockers.These medications, which help relax the muscles in the walls of your blood vessels, might be used to treat Raynaud's phenomenon.

  • Other immunosuppressants.Your doctor might prescribe other treatments based on your symptoms. For example, if your symptoms are similar to those of lupus, your doctor may prescribe treatments typically used for people with lupus.

  • Pulmonary hypertension medications.If Bosentan (Tracleer) or sildenafil (Revatio Viagra) are prescribed, they might be taken.

Lifestyle and home remedies

There are other ways to manage symptoms of mixed connective tissue disease, including:

  • Nonsteroidal anti-inflammatory drugs are medications that help to reduce inflammation.If your pain is mild, some medications such as ibuprofen (Advil Motrin IB others) or naproxen sodium (Aleve) might help relieve the pain.

  • Protecting hands from cold.Wearing gloves and taking other measures to keep your hands warm can help prevent the symptoms of Raynaud's disease.

  • Not smoking.Smoking can worsen the effects of Raynaud's phenomenon, which is a condition in which blood vessels constrict due to cold weather or stress.

  • Reducing stress.When Raynaud's phenomenon is triggered, relaxation techniques can help reduce your stress levels. These techniques involve slowing and focusing on your breathing.

Preparing for your appointment

If you have joint problems, you might be referred to a doctor who specializes in rheumatology (a doctor who deals with joint diseases).

What you can do

Make sure to have someone with you when you go to your appointment, so you don't forget anything.

Make a list of:

  • Your symptoms,Make sure to bring any materials that may seem unrelated to the reason for your appointment, like school supplies, and when it began.

  • Key medical information,If you have any other conditions, such as allergies, and your family has had similar problems in the past, then you may be eligible for treatment.

  • All medications, vitamins, or other supplements require a prescription from a doctor. you take, including doses

  • Questions to ask your doctor

What questions do you want answered before starting this project? Some basic questions to consider include: -What materials will I need? -Where will I find them? -How many leaves will I need?

  • What are the most likely reasons for my symptoms?

  • What tests do I need?

  • What treatments are available?

  • What other health conditions do you have? How can I best manage them together?

If you have any questions, don't hesitate to ask.

What to expect from your doctor

Your doctor may ask you questions such as:

  • Do you have the same symptoms every time or do they come and go?

  • How severe are your symptoms?

  • What are the possible side effects of the treatment?

General summary

  1. It is possible to recover from mixed connective tissue disease as there are various treatments that can help relieve symptoms and reduce the risk of developing more serious complications One such treatment is taking medications including corticosteroids to dampen the immune system's overproduction of inflammatory cells Another treatment may involve physical and occupational therapy to help patients get back on their feet after experiencing an injury or a flare-up of symptoms.

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