Definition and Overview

A connective tissue disorder or disease is the general term used for conditions that affect the body’s connective tissues. So far, there are 150 different types of connective tissue disorders that have been identified.

The body is composed of nervous, muscle, epithelial, and connective tissues. These refer to the types of tissues that act as the body’s “glue,” keeping the organs together. They are also responsible for some of the functions of other tissues as well as for the body’s structure and support.

These tissues are composed of two general parts: cells and extracellular matrix. This matrix is a fibrous protein and another matrix made up of polysaccharide, which is created by the cells that are within the extracellular matrix.

Depending on the organization of the matrix, the connective tissue may be classified as loose or dense. It is loose when the collagenous fibers that form the matrix are sparse. These types are often found in the inside linings of the organs and underneath the epithelial tissues. Their ground substance and cells are abundant.

The dense connective tissues are called as such since their fibers are abundant and appear packed. There are fewer cells and ground substance found in the dense tissues. While the loose ones are found inside the organs, the dense tissues are outside. Some of the most common types of dense connective tissues are bones, ligaments, and joints.

The connective tissues may become diseased for a variety of reasons including genetic risks, injuries, and infection. The disease may be localized or systemic, which means it affects various organs of the body. This also means that the symptom can be mild or severe, even to the point of being life-threatening.

In most cases, depending on the specific disease, there is no cure but the progression and symptoms can be managed.

Causes of Condition

A connective tissue disorder can be caused by the following:

Genetics – There are two possible scenarios under the genetic cause. One, the patient inherits the mutated gene from either of the parents, and two, the patient’s genes have gone through a spontaneous mutation, or had become defective.

Two of the well-known disorders under this cause are Marfan syndrome and epidermolysis bullosa (EB). Marfan syndrome is associated with the defective gene that helps produce a protein known as fibrillin-1. People with this disease often have long and spider-like fingers and toes, as well as a very thin and long body. EB, on the other hand, leads to oversensitivity of the skin.

Most of these diseases are rare.

Autoimmune – A disease becomes autoimmune when the body’s immune system becomes very active and starts attacking the healthy connective tissues. The actual cause of an autoimmune disease is often unknown, although some experts suggest the possible association with heredity. For example, patients with systemic lupus are more likely to have an immediate family member or relative who has been diagnosed with the same. As the tissues are being attacked by the antibodies, they become inflamed until they are damaged.

Some of the autoimmune diseases that affect the connective tissues are:

  • Scleroderma – This refers to the hardening, thickening, and the contraction of the skin and connective tissues. It can be classified as localized, which means it affects only the part of the skin, or systemic and impacts the vital internal organs.

  • Rheumatoid arthritis (RA) – This occurs when the immune system damages the membrane that is found in between the joints called synovium. RA can lead to permanent joint damage and deformity.

  • Systemic lupus erythematosus (SLE) – Also referred simply as lupus, it is a chronic inflammation of the internal organs and skin.

  • Infection – One of the classic examples of a connective tissue disorder that is caused by infection is cellulitis. The bacteria cause the subcutaneous fat, which is found underneath the skin, and the dermis to become inflamed.

  • Injury – An injury can be so severe that it can change the structure of the connective tissues, leaving scars.

Key Symptoms

  • Inflamed skin and internal organs
  • Overall body pain, which may be mild or excruciating
  • Stiffening of the joints
  • Easy breakage of the bones, joints, teeth, and skin
  • Muscle weakness
  • Fatigue
  • Shortness of breath
  • Weight loss
  • Fever
  • Change of body shape (e.g., excessive curvature of the spine, very thin body)

Because there are so many possible connective tissue disorders, the symptoms can also greatly vary. On the other hand, it is possible for a person to be diagnosed with more than one type of connective tissue disorder. This is often referred to as mixed.

Although the symptoms can be mild, they can turn worse or progress and affect the functions of the vital organs such as the heart, lungs, and kidneys, resulting in failure.

Who to See and Treatments Available

Connective tissue disorders can manifest either in childhood or adulthood. Thus, either a pediatrician or an internist can diagnose it. Depending on the kind of disorder, a specialist such as a dermatologist or rheumatologist can also diagnose, treat, and manage the disease.

Some of these diseases exhibit physical symptoms, and thus, experienced doctors may already diagnose them in a shorter period. Others, on the other hand, may go through a series of imaging, blood, and physical tests before the disease can be confirmed.

So far, there is no known cure for most of the connective tissue disorders, but they can be managed. Management is necessary to:

  • Ensure the organs, especially the vital ones, function as normally as possible
  • Delay the progression of the disease
  • Avoid or reduce complications

Treatment and management techniques may include:

  • Immune-suppressive drugs for a variety of autoimmune diseases
  • Surgery
  • Other medications such as beta blockers or blood thinners
  • Alteration of diet
  • Increased physical activity
  • Reduced stress to control flare-ups
  • Brace or other supporting device if there is a significant change in the body’s structure like the curving of the spine
  • Organ transplant if the vital organs are already irreversibly damaged
    References:

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases: "Questions and Answers about Heritable Disorders of Connective Tissue," "Handout on Health: Scleroderma," "What Are Heritable Disorders of Connective Tissue? Fast Facts: An Easy-to-Read Series of Publications for the Public."

  • NYU Langone Medical Center: "Ehlers-Danlos Syndrome."

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