Home / Types of Connective Tissue Disorders – Special focus on mixed connective tissue disorder (MCTD)

Types of Connective Tissue Disorders – Special focus on mixed connective tissue disorder (MCTD)

Types of Connective Tissue Disorders – Special focus on mixed connective tissue disorder (MCTD)

The human body is made up of connective tissues that provide structural support and “connect” organs and systems. They are integral to the normal functioning of the body.

However, autoimmune conditions or genetic factors can disrupt the working of these connective tissues. This disruption can lead to connective tissue disorders. Through this blog, we will help you understand the intricacies of connective tissue disorders, including their symptoms, types, classifications, and potential treatment options. This blog will also address mixed connective tissue disorder (MCTD) by delving into its diagnostic criteria, prognosis, and management strategies.

Understanding connective tissue disorders

Connective tissue disorders encompass a broad range of medical conditions that disrupt the connective tissues in the body. These disorders may be due to autoimmune triggers, genetic conditions (mutations), or even a combination of both factors. 

Connective tissues include collagen, elastin, fibrillin, and various other types that support and connect the various organs and systems of the body. In a person with a connective tissue disorder, the collagen and elastin become inflamed. The symptoms of connective tissue disorders include:

  • Joint pain and swelling
  • Muscle weakness
  • Skin abnormalities (rashes, redness, sensitivity to sunlight, skin thickening)
  • Fatigue
  • Fevers
  • Hair loss
  • Mouth ulcers
  • Chest pain
  • Respiratory problems
  • Kidney issues
  • Gastrointestinal issues
  • Vision trouble and other eye-related problems
  • Neurological symptoms (cognitive difficulties, headaches, nerve damage)

With over 200 different types of connective tissue disorders, it may be difficult to zero in on specific causes. However, research indicates the following may be considered as triggers and causes of connective tissue disorders:

  • Infection
  • Excessive exposure to ultraviolet light
  • Inadequate nutrition, deficiency of vitamins C and D
  • Exposure to toxins

Types of connective tissue disorders

Connective tissue disorders are categorised according to their primary characteristics and underlying causes or triggers. The most common types of connective tissue disorders characterised by inflammation from autoimmune conditions are listed below:

  • Rheumatoid Arthritis is an autoimmune disorder that primarily affects the joints, causing inflammation, pain, and stiffness. As the condition advances, it can lead to joint damage and deformities.
  • Systemic Lupus Erythematosus (SLE) is also an autoimmune disease that affects various systems in the body, including the skin, joints, kidneys, heart, and nervous system.

You can read more about rheumatoid arthritis and lupus here.

  • Scleroderma is a group of rare autoimmune disorders that causes the hardening and tightening of the skin and connective tissues. This happens due to the overproduction of collagen. Scleroderma is also known to affect internal organs.
    • Systemic Sclerosis is a subtype of scleroderma, and causes thickening and scarring of connective tissues. It also impacts multiple organs.
  • Churg-Strauss Syndrome is a type of autoimmune vasculitis that impacts the cells in the blood vessels of the lungs, skin, gastrointestinal system, and nerves.
  • Microscopic Polyangiitis (MPA) affects the cells in the blood vessels throughout the body. It is a rare condition.
  • Granulomatosis with Polyangiitis (GPA) is a type of vasculitis that affects the kidneys, lungs, nose, and other organs. It causes inflammation of the blood vessels in organs.
  • Polymyositis is characterized by inflammation and weakness in the skeletal muscles. The immune system mistakenly attacks and damages muscle fibres. This causes muscle weakness, and deters everyday functionality. It is also known as dermatomyositis.
  • Mixed Connective Tissue Disorder (MCTD) is a distinct connective tissue disorder that shares characteristics of multiple connective tissue diseases, including lupus, scleroderma, and polymyositis. It has its diagnostic criteria and distinct clinical presentation. It is also known as the Sharp Syndrome.

Connective tissue disorders may also be triggered by genetic factors. These types of connective tissue disorders include:

  • Ehlers-Danlos Syndrome occurs due to the disruption of collagen formation, and is characterized by overly flexible joints, stretchy skin, as well as abnormal growth of scar tissue.
  • Marfan Syndrome is triggered by the deficiency of the protein fibrillin. It can impact the ligaments, bones, cartilage, tendons, eyes, lungs, skin, blood vessels, and heart.
  • Epidermolysis Bullosa is a result of a gene mutation that causes the skin to become more delicate and fragile. People with this condition often get blisters or tears on the skin at the slightest contact. This type of disorder affects the production of different types of protein in the body, such as laminin, keratin, collagen, and others.
  • Osteogenesis Imperfecta is the result of gene mutations that impact the production of collagen. It is also characterized by low muscle mass, overly relaxed ligaments and joints, as well as brittle bones. Some people with this condition also experience hearing loss, a curved spine, respiratory problems, bluish grey tint in the whites of their eyes, and teeth that break easily.

Diagnosis of Mixed Connective Tissue Disorder (MCTD)

Diagnosing MCTD can be difficult due to its overlapping features with other connective tissue diseases. The first step is to rule out other connective tissue disorders. The typical diagnostic criteria for MCTD includes the following:

  • High levels of U1 RNP antibodies in the blood
  • Clinical symptoms and signs, such as joint pain, skin rashes, muscle weakness, and Raynaud’s phenomenon

The following tests may be conducted to rule out or diagnose MCTD:

  • X-Rays
  • Magnetic resonance imaging (MRI) scans
  • Tests for antibodies
  • Blood tests
  • Urine tests
  • Tests for dry eyes and mouth
  • Tissue biopsy
  • Tests for inflammation markers (C-reative protein, erythrocyte sedimentation rate (ESR))

Symptoms of MCTD

Typically, MCTD presents as a combination of symptoms common to other connective tissue disorders. Some of these symptoms include:

  • Joint pain and swelling like in rheumatoid arthritis
  • Skin changes, such as skin tightening and thickening seen in scleroderma
  • Muscle weakness and inflammation, as seen in polymyositis
  • Fingers and toes turning white, then blue, and finally red in response to cold or stress; also known as Raynaud’s phenomenon
  • Fatigue, fever, and weight loss

Treatment for MCTD

Early diagnosis and treatment is critical for preventing organ damage that can be the eventual outcome if MCTD is left untreated. Some of the most commonly prescribed treatments for MCTD include:


These are determined by the symptoms and complications the patient may be experiencing. Medications generally include corticosteroids, immunosuppressive agents, nonsteroidal anti-inflammatory drugs (NSAIDs), and disease-modifying antirheumatic drugs (DMARDs).

Physical and Occupational Therapy

Physical Therapy and Occupational Therapy help improve muscle strength, reduce joint pain, and enhance overall functioning.

Lifestyle Modifications

A balanced diet, regular exercise, and stress management are essential for patients with MCTD.

Symptom-Specific Treatments

These treatments typically target specific symptoms. For example, a patient exhibiting symptoms of Raynaud’s phenomenon, may be prescribed medications to improve their blood circulation.

Stem cell therapy for connective tissue disorders at Plexus

Mesenchymal stem cells (MSCs) have shown incredible promise in managing autoimmune conditions like rheumatoid arthritis, lupus, psoriasis. Their multipotency, ability to mediate the immune response and secrete anti-inflammatory properties, as well as the immune system’s tolerance of them make MSCs the ideal choice for managing connective tissue disorders too. 

Injected MSCs suppress the patient’s immune system, and also bring about fundamental changes within the immune system that are critical for long-term remission. Additionally, stem cell therapy for MCTD and other connective tissue disorders offers the following advantages:

  • Help with the depletion of autoaggressive T Cells and B lymphocytes
  • Differentiate into cartilage, bone, and other types of connective tissues
  • Reduce antibodies
  • Reverse stromal cell abnormalities

At Plexus, India’s first ISO-Certified stem cell research centre, we use mesenchymal stem cells to help the patient manage their symptoms and slow down disease progression. We offer customised regenerative rehabilitation for a variety of autoimmune conditions, such as rheumatoid arthritis, psoriasis, and lupus.

We strongly believe that early diagnosis followed by immediate treatment will help improve the patient’s quality life.


What is connective tissue deficiency syndrome?

Connective tissues are made of proteins that help in connecting various organs and organ systems in the body. When the functioning of these tissues is disrupted, most likely by an autoimmune condition, genetic predisposition (family history), or other environmental triggers, it leads to connective tissue disorders.

Is connective tissue disorder an autoimmune disease?

If a person has an autoimmune condition, they will eventually also develop connective tissue disorder(s). The latter can be either autoimmune, genetic, or triggered by environmental factors.

What are 3 diseases that affect connective tissue?

Autoimmune conditions such psoriasis, lupus, rheumatoid arthritis, scleroderma, and polymyositis can affect connective tissues.

What is the most common connective tissue disorder?

Rheumatoid arthritis is the most common type of connective tissue disorder.

What organs can connective tissue disease affect?

Typically, connective tissue disorders cause the malfunctioning of immune cells and inflame the membranes around the joints. They are also known to affect the eyes, lungs, and heart.

What is the best exercise for connective tissue disease?

Aerobic exercises coupled with stretching, and strength training can benefit people with connective tissue diseases.

What disease destroys connective tissue?

Most autoimmune conditions can damage connective tissues. However, systemic lupus erythematosus (SLE) can cause inflammation in the connective tissues of nearly every organ in the body.

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