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Heritable Diseases of Connective Tissue - Causes, Symptoms, Diagnosis and Treatment

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A large group of inherited disorders and conditions are caused by defects in the structure and synthesis of extracellular matrix elements. Read to know more.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At October 18, 2022
Reviewed AtAugust 18, 2023

What Are Heritable Diseases of Connective Tissue?

Connective tissue is the most abundant and widespread primary tissue of the body; it is composed of cells, protein fibers (collagen, elastin, reticular fibers), and an amorphous substance. Several disorders may arise due to the defects in genes that encode primary components of the connective tissue.

There are multiple types of connective tissue disorders. The two major categories are listed below:

  1. The first category includes hereditary or genetic disease due to a single gene defect, i.e., caused by mutation.

  2. The second category is the acquired autoimmune and inflammatory disease that usually tends to happen later in life.

The main organs of the musculoskeletal system, cardiovascular system, eye, and skin are commonly affected.

Connective Tissue Disorders Caused by Mutation or Single Gene Defect:

  1. Ehlers Danlos Syndrome (EDS) - EDS is characterized by over-flexible joints, stretchy skin, and abnormal growth of scar tissue. A curved spine, weak blood vessels, bleeding gums, problems with the lungs, heart valves, or digestion are the symptoms associated with it.

  2. Epidermolysis Bullosa (EB) - This is a group of rare medical conditions that causes fragile, blistering lesions on the skin and mucous membrane and is caused by defects of several proteins in the skin, usually evident at birth.

  3. Marfan's Syndrome - An inherited disorder that affects connective tissue. Usually affects the heart, eyes, blood vessels, and bones. Tall and slender build, high arched and crowded teeth, heart murmur, extreme nearsightedness, an abnormally curved spine, and disproportionately long arms, legs, and fingers are the symptoms.

  4. Osteogenesis Imperfecta - A group of genetic disorders caused by defective genes, characterized by fragile bones that break easily, also known as brittle bone disease. Symptoms include bone deformity and pain, curved spine, weak, brittle or discolored teeth, loose joint or muscle weakness, small stature, and hearing loss.

  5. Other Less Common Disorders Include:

  • Cutis Laxa.

  • Williams syndrome.

  • Stickler syndrome.

  • Hanac syndrome, etc.

Acquired Autoimmune Diseases of Connective Tissue:

  1. Rheumatoid Arthritis - This is a chronic autoimmune and inflammatory disease that causes pain and inflammation in the affected parts of the body; the immune system attacks the healthy cells and tissues in the body, causing the destruction of bones and organs of the body. Symptoms include tenderness and swelling in more than one joint, pain or aching in more than one joint, fatigue or tiredness, and stiffness in joints.

  2. Scleroderma or Systemic Sclerosis - This is a group of rare autoimmune diseases in which normal tissue is replaced with thick tissue (extra collagen). Although it often affects the skin, scleroderma can also affect other parts of the body, including GIT, lungs, kidneys, heart, blood vessels, muscles, and joints.

  3. Lupus Erythematous - It is a chronic inflammatory disease of unknown etiology that affects a single organ or multiple organs, the skin, joints, kidneys, nervous system, and membranes lining body cavities.

What Causes Connective Tissue Diseases?

This condition usually tends to be caused due to genetic or hereditary factors; however, some environmental factors may also be responsible for the disease, and more often, they are of unknown cause. Following are some of the causes:

  • Exposure to toxic chemicals found in cigarette smoke and air pollution.

  • Exposure to ultraviolet light.

  • Inadequate nutrition, including lack of vitamin D and C.

  • Certain infections like pneumonia and bronchitis.

What Are the Common Signs and Symptoms of Connective Tissue Disorders?

  • Muscle weakness.

  • Vision changes.

  • Skin changes (color and texture).

  • Muscles and joint pain.

  • Rashes.

  • Fatigue and mild fever.

  • Swollen fingers and hands.

  • Cold and numb fingers or toes.

  • A general feeling of being unwell.

Risk Factors:

Connective tissue diseases can occur in people of any age. However, it appears most commonly in women under the age of 50.

What Are the Complications of Heritable Diseases of Connective Tissue?

According to the organs involved, the symptoms may vary from one person to another:

Cardiovascular -

  • Heart valve abnormality.

  • Easy bruising.

  • Dilation of blood vessels.

Skin -

  • Stretch marks.

  • Loss of skin elasticity.

  • Delayed healing.

  • Abnormal scarring.

Musculoskeletal -

  • Joint stiffness.

  • Short stature.

  • Spine deformity.

  • Osteoarthritis.

  • Brittle bones.

  • Teeth deformities.

Eye -

Other Common Features Are -

  • Hearing loss.

  • Lung diseases.

  • Abdominal hernia.

  • Neurological abnormalities.

How to Diagnose Heritable Diseases of Connective Tissue?

The various diagnostic methods used in evaluating the heritable disease of connective tissue disorders are:

  • Plain radiographs of the chest may help in evaluating any signs of inflammation in the lungs.

  • Magnetic resonance imaging (MRI) and computed tomography (CT) scans also help in examining any inflammation in particular organs.

  • Blood tests to detect the levels of red blood cells (RBC), erythrocyte sedimentation rate (ESR), etc., to diagnose several systemic disorders.

  • ECG (electrocardiogram) may be ordered to determine the activity of the heart and other conditions affecting it.

  • An electromyogram assists in assessing the functioning of nerves and muscles.

  • Another test to diagnose eye, heart, and skin conditions is also ordered by the specialist to diagnose connective tissue disorders.

How Are Heritable Diseases of Connective Tissue Treated?

As the heritable disorders of connective tissue are not completely treatable, The following therapies may aid in relieving the symptoms and help in performing daily activities.

  • Corticosteroids- It is mostly advised for the acquired form of connective tissue disorders, as they are caused by an altered immune system (immune system attacks the body's own healthy cells). Therefore, corticosteroids suppress the immune system and thus reduce inflammation.

  • Calcium Channel Blockers: These are suggested to relax the contracted muscles along the blood vessel’s wall.

  • Immunomodulators: These are drugs that are specified to strengthen and modulate the immune system. The most commonly used are Thalidomide and Pomalidomide. But, they may cause various side effects; therefore, the doctor may prescribe it based on the severity of the disorder.

  • Methotrexate - The drug is preferred to manage cancer and autoimmune disorders, especially for rheumatoid arthritis.

  • Antimalarial Drugs: These are suggested if the affected individual has mild symptoms and helps in reducing the disease flare-ups.

  • Pulmonary Hypertension Medication- These medications dilate the blood vessels in the lungs affected by autoimmune inflammation and allow easy blood flow.

Conclusion:

There is wide variation in how patients with genetic or autoimmune connective tissue disease respond a long way. Even with the treatment, connective tissue disorders often get worse. But the newest immune treatment for this sort of disease is beneficial; people can survive with minimal disease activity and can be prevented from pain and inflammatory conditions as age advances. Some people, whether single-gene affected or autoimmune-related, can have a poor prognosis. Proper management of the disease can improve access to care.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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ehlers-danlos syndromeconnective tissue disease
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