What Is Connective Tissue Disease?
Connective tissue disease is a group of disorders involving the protein-rich tissue that supports your organs and other parts of your body. Examples of connective tissue are fat, bone, and cartilage. These disorders often involve your joints, muscles, and skin, but they can also involve other organs and organ systems, including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. There are more than 200 disorders that affect connective tissue. Causes and specific symptoms vary by type.
Connective Tissue Disease Symptoms
Since there are so many connective tissue diseases, your symptoms will depend on the disease you have. In general, though, symptoms may affect your:
- Bones
- Joint
- Skin
- Heart and blood vessels
- Lungs (trouble breathing or catching your breath, cough with bloody phlegm, chest pain)
- Head and face changes
- Height (you may be way taller or shorter than most people)
- Joints (pain or weakness)
- Muscles (weakness)
- Swelling and color changes to your fingers and fingertips
Connective Tissue Disease Types
There are two main types of these diseases. Inherited connective tissue diseases come from genetic problems passed down from your parents. Autoimmune connective tissue diseases happen when your immune system mistakenly attacks your own body. You might get an autoimmune connective tissue disease because of:
- Toxic chemicals found in things such as air pollution and cigarette smoke
- Poor nutrition, mostly a lack of vitamins D and C
- Infection
- Too much ultraviolet light
Inherited Disorders of Connective Tissue
Some connective tissue diseases — often called heritable disorders of connective tissue (HDCTs) — result from changes in certain genes. Many of these are pretty rare. The following are some of the more common ones:
Ehlers-Danlos syndrome (EDS)
EDS is a group of more than 10 disorders. It is characterized by overflexible joints, stretchy skin, and abnormal growth of scar tissue. Symptoms can range from mild to disabling. Depending on the specific form of EDS, other symptoms may include:
- A curved spine
- Weak blood vessels
- Bleeding gums
- Problems with the lungs, heart valves, or digestion
Epidermolysis bullosa (EB)
People with EB have fragile skin that can easily tear or blister as a result of a minor bump, stumble, or even friction from clothing. Some forms of EB may involve the digestive tract, respiratory tract, muscles, or bladder. EB is usually obvious at birth and results from defects in several proteins in the skin.
Marfan syndrome affects the bones, ligaments, eyes, heart, and blood vessels. People with Marfan syndrome tend to be tall, have extremely long bones, and thin "spider-like" fingers and toes. Other problems may include eye problems due to abnormal placement of the eye lens and enlargement of the aorta (the largest artery in the body), which can lead to a fatal rupture. A mutation in the gene that controls the structure of a protein called fibrillin-1 causes Marfan syndrome.
Osteogenesis imperfecta
It is a condition of brittle bones, low muscle mass, and lax joints and ligaments. There are several types of this condition. Specific symptoms depend on the specific type and may include:
- Blue or gray tint to the whites of the eyes
- Thin skin
- Curved spine
- Breathing problems
- Hearing loss
- Teeth that break easily
The disease happens when a mutation in two genes responsible for type 1 collagen lowers the amount or quality of the protein, which is essential to the structure of bones and skin.
Autoimmune Connective Tissue Disease
Researchers don't know the cause of other forms of connective tissue disease. In some cases, they believe something in the environment could trigger the disease in people who are vulnerable. In these diseases, the body's normally protective immune system makes antibodies that attack the body's own tissues.
These diseases include:
Polymyositis and dermatomyositis
These are two related diseases in which there's inflammation of the muscles (polymyositis) and skin (dermatomyositis). Symptoms of both diseases can include:
- Muscle weakness
- Fatigue
- Trouble swallowing
- Shortness of breath
- Fever
- Weight loss
Dermatomyositis may also affect the skin around your eyes and on your hands.
Rheumatoid arthritis (RA)
Rheumatoid arthritis is a disease in which the immune system attacks the thin membrane (called the synovium) lining the joints, causing joint pain, stiffness, warmth, swelling, and inflammation throughout the body. Other symptoms may include:
RA can lead to permanent joint damage and deformity.
Scleroderma
Scleroderma is a term for a group of disorders that cause thick, tight skin, scar tissue buildup, and organ damage. These disorders fall into two general categories: localized scleroderma and systemic sclerosis.
Localized scleroderma is confined to the skin, and sometimes, the muscle beneath it. Systemic sclerosis also involves the blood vessels and major organs.
Sjögren's syndrome is a chronic disease in which the immune system attacks the moisture-producing glands, such as those of the eyes and mouth. The effects can range from mildly uncomfortable to crippling. Although dry eyes and mouth are the main symptoms of Sjögren's, many people also have extreme fatigue and joint pain. The condition raises your chances of lymphoma and may cause problems with your kidneys, lungs, blood vessels, digestive system, and nerves.
Systemic lupus erythematosus (SLE)
SLE, or simply lupus, is a disease that causes inflammation of the joints, skin, and internal organs. Symptoms may include:
Vasculitis is a general term for more than 20 different conditions that cause blood vessel inflammation. It can involve any of the blood vessels and affect blood flow to the organs and other body tissues.
Mixed connective tissue disease
People with MCTD have symptoms of several diseases, including lupus, scleroderma, polymyositis or dermatomyositis, and rheumatoid arthritis. When this happens, your doctor will diagnose you with mixed connective tissue disease.
While many people with mixed connective tissue disease have mild symptoms, others may have life-threatening health problems.
Connective Tissue Disease Diagnosis
To diagnose connective tissue disease, your doctor will give you a physical exam and ask about your personal and family medical history. You may also take one or more of these tests:
- Blood and urine tests
- X-rays and MRI scans, which show images of your bones, organs, and other internal structures of the body
- Tests for specific antibodies
- Tests to check for inflammation
- Removing a sample of tissue from your body to be tested in a laboratory (tissue biopsy)
- Tests for dry eyes or mouth
Connective Tissue Disease Treatment
Treatment for connective tissue disease will depend on which kind you have. Treatments range from vitamin supplements to physical therapy and medications. In addition to your regular doctor, you could also need to visit specialists such as eye or skin doctors. Talk to your doctor if your symptoms get worse or if you have new ones.
Takeaways
Connective tissue disease is a group of more than 200 disorders affecting the tissue that supports organs and other parts of the body. There are two types — those that you inherit from your parents through your genes and autoimmune connective tissue diseases. To figure out if you have a connective tissue disease, your doctor will give you a physical exam and run different blood, urine, imaging, and tissue sample tests. There are many different treatments for the condition, depending on which kind you have, including medication and physical therapy.
Connective Tissue Disease FAQs
Is connective tissue disease serious?
Connective tissue disease can sometimes cause serious and deadly health problems, such as:
- High blood pressure in your lungs (pulmonary hypertension)
- Lung scarring (interstitial lung disease), which makes it hard to breathe
- Heart disease (your heart may become enlarged or inflamed, which can lead to heart failure)
- Kidney damage
- Digestive problems
- Anemia
- Hearing loss
- Nerve damage
What is undifferentiated connective tissue disease?
It's a condition with signs and symptoms of an autoimmune disease but doesn't fit the specific criteria for any known connective tissue disease. Doctors diagnose undifferentiated connective tissue disease when they've ruled out other similar diseases. Symptoms can vary a lot from one person to another and may look like other connective tissue diseases.