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Connective Tissue Disorders

Connective tissue disorders are a weakening of the blood vessel walls and other tissues. They can lead to serious health problems like aneurysm, aortic dissection, or rupture.

The experts at the UPMC Heart and Vascular Institute use the latest treatments to help people manage connective tissue disorders.

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What Is a Connective Tissue Disorder?

Your body’s connective tissue is the “glue” that connects, supports, or separates your organs and other structures.

Connective tissue includes:

  • Bones
  • Ligaments
  • Tendons
  • Cartilage
  • Fat

Connective tissue disorders cause inflammation in collagen and elastin, two main types of protein that keep connective tissues strong. This inflammation can damage blood vessels, which consist of connective tissue.

Types of connective tissue disorders

There are more than 200 different types of connective tissue disorders, with different causes and symptoms.

Most connective tissue disorders fall under two main types: hereditary and autoimmune.

Hereditary connective tissue disorders

People inherit hereditary connective tissue disorders from one of their parents.

Types of hereditary connective tissue disorders include:

  • Ehlers-Danlos syndrome — can affect the skin, joints, and blood vessel walls.
  • Marfan syndrome — can affect the aorta, heart valves, bones, eyes, skin, nervous system, and lungs.

Autoimmune connective tissue disorders

Doctors don't know the exact cause of autoimmune connective tissue disorders.

Some believe environmental factors can cause these disorders in people with certain genetic patterns. These factors make the body's own immune system attack healthy cells and tissues.

Types of autoimmune connective tissue disorders include:

  • Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) — affects cells in the blood vessels of the lungs, gastrointestinal track, skin, and nerves. It's a type of vasculitis.
  • Microscopic polyangiitis — affects cells in the blood vessels in organs throughout the whole body. It's a very rare condition.
  • Rheumatoid arthritis — causes inflammation in the membranes around the joints. It can also affect the heart, lungs, and eyes.
  • Scleroderma — causes scar tissue to form in the skin, internal organs, and small blood vessels.

Connective tissue disorder causes and risk factors

Some causes of connective tissue disorders include:

  • Infection
  • Autoimmune disorders
  • Genetics
  • Environmental factors

Connective tissue disorders can occur:

  • In both genders
  • At any age
  • In all ethnic groups

People with a family history of connective tissue disorders may have a higher risk. If you are at risk, you should think about genetic counseling and testing in some cases.

Connective tissue disorder complications

Connective tissue disorders can weaken blood vessels and cause serious, even life-threatening health problems, including:

  • Aneurysm — a bulge or weak spot in an artery.
  • Aortic dissections — a tear in the inner lining of the aorta, the main artery in the body.
  • Aortic dilation — when the aorta stretches and weakens.
  • Rupture — when a blood vessel bursts or breaks.

Connective Tissue Disorder Symptoms and Diagnosis

Connective tissue disorder symptoms

Symptoms of connective tissue disorders vary based on the specific type you have. In some cases, people don't have any symptoms until their 20s or 30s.

Some common symptoms can include:

  • In children: easy bruising, hyper-flexibility, and orthopedic problems.
  • Chest pain.
  • Specific facial, skeletal, eye, and skin features.
  • Joint and muscle aches.

Diagnosing connective tissue disorders

To diagnose a connective tissue disorder, your doctor will give you a physical exam and ask you about your:

  • Family history
  • Health history
  • Symptoms

Genetic blood testing is often helpful.

Connective Tissue Disorder Treatment

Each type of connective tissue disorder requires a specific treatment.

Some common connective tissue disorder treatments can include:

  • Regular follow-up with your doctor to check the health of your heart and blood vessels.
  • Drugs to slow your heart rate or block the production of certain proteins in your body.
  • Surgery to repair damaged arteries or heart valves.