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Connective Tissue Disorders

Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts their shape and helps keep them strong. It also helps some of your tissues do their work. It is made of many kinds of proteins. Cartilage and fat are types of connective tissue.

Over 200 disorders that impact connective tissue. There are different types:

Each disorder has its own symptoms and needs different treatment.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Scleroderma

Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can cause swelling or pain in your muscles and joints.

Symptoms of scleroderma include :

No one knows what causes scleroderma. It is more common in women. It can be mild or severe. Doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. There is no cure, but various treatments can control symptoms and complications.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.

EDS usually affects your skin, joints and blood vessel walls. Symptoms include:

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

Marfan Syndrome

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

There is no specific test for Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Arm Injuries and Disorders

Of the 206 bones in your body, three of them are in your arm: the humerus, radius, and ulna. Your arms are also made up of muscles, joints, tendons, and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall, or an accident.

Types of arm injuries include :

You may also have problems or injure specific parts of your arm, such as your hand, wrist, elbow, or shoulder.

Gum Disease

If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth.

In gingivitis, the gums become red and swollen. They can bleed easily. Gingivitis is a mild form of gum disease. You can usually reverse it with daily brushing and flossing and regular cleanings by a dentist or dental hygienist. Untreated gingivitis can lead to periodontitis. If you have periodontitis, the gums pull away from the teeth and form pockets that become infected. If not treated, the bones, gums and connective tissue that support the teeth are destroyed.

NIH: National Institute of Dental and Craniofacial Research

Leg Injuries and Disorders

Your legs are made up of bones, blood vessels, muscles, and other connective tissue. They are important for motion and standing. Playing sports, running, falling, or having an accident can damage your legs. Common leg injuries include sprains and strains, joint dislocations, and fractures (broken bones).

These injuries can affect the entire leg, or just the foot, ankle, knee, or hip. Certain diseases also lead to leg problems. For example, knee osteoarthritis, common in older people, can cause pain and limited motion. Problems in your veins in your legs can lead to varicose veins or deep vein thrombosis.

Mitral Valve Prolapse

What is the mitral valve?

The mitral valve is one of the four valves in your heart. Heart valves have flaps that open and close. The flaps make sure that blood flows in the right direction through your heart and to the rest of your body. When your heart beats, the flaps open to let blood through. Between heartbeats they close to stop the blood from flowing backwards.

The mitral valve opens to let blood flow from your heart's upper left chamber to the lower left chamber. When the lower left chamber contracts (squeezes) to pump blood to your body, the mitral valve closes tightly to keep any blood from flowing backwards.

What is mitral valve prolapse (MVP)?

Mitral valve prolapse (MVP) happens when the flaps of the mitral valve become floppy and don't close tightly. In some cases, blood may leak backwards through the valve to the chamber it came from. This is called backflow, or regurgitation. When there is a lot of mitral valve backflow, the heart can't push enough blood out to the body.

But most people who have MVP don't have any backflow. In fact, MVP doesn't cause any health problems for most people who have it.

Who is more likely to develop mitral valve prolapse (MVP)?

Anyone can have MVP. Most people who have it were born with it. MVP tends to run in families, but researchers don't know the exact cause.

You may be more likely to develop MVP if you:

Mitral valve prolapse with backflow is most common in men and people who have high blood pressure.

What are the symptoms of mitral valve prolapse (MVP)?

Most people who have MVP don't have any symptoms. But if it does cause symptoms, they may include:

What other problems can mitral valve prolapse (MVP) cause?

In rare cases, MVP can cause other problems. They're most often caused by backflow. They can include:

How is mitral valve prolapse (MVP) diagnosed?

Health care providers often find MVP during routine health check-ups. If you have MVP, your provider may hear a clicking sound when listening to your heart with a stethoscope. If blood flows backwards through the valve, your heart may also make a whooshing sound called a heart murmur.

You may also need certain heart tests. The most useful test is an echocardiogram, or echo. This is a type of ultrasound that uses sound waves to make a moving picture of your heart.

What are the treatments for mitral valve prolapse (MVP)?

Most people don't need any treatment for MVP. If you have symptoms with little or no backflow, you may only need medicine to relieve your discomfort.

If the amount of backflow is significant, you may need treatment to prevent other heart problems from developing. Treatments may include:

When possible, valve repair is generally preferred over replacement. That's because repairs are less likely to weaken the heart muscle, and they're less likely to cause heart infection.

Can mitral valve prolapse be prevented?

You can't prevent mitral valve prolapse. But if you have mitral valve prolapse, you can help prevent the rare but serious problems it can cause by:

NIH: National Heart, Lung, and Blood Institute

Pulmonary Fibrosis

Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen.

Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis.

Symptoms include:

Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant.

NIH: National Heart, Lung, and Blood Institute

Pulmonary Hypertension

What is pulmonary hypertension?

Pulmonary hypertension, sometimes called PH, is a serious condition that affects the blood vessels in the lungs. It develops when the blood pressure in your lungs is higher than normal.

Your heart pumps blood to your lungs so they can add oxygen to the blood. The blood goes back to your heart. From there, it travels to the rest of your body so that your tissues can get the oxygen that they need.

The blood moves from your heart to your lungs through blood vessels called pulmonary arteries. If the pulmonary arteries become damaged, narrowed, or blocked, the blood does not flow through them as well. This can increase the blood pressure in the arteries and cause pulmonary hypertension.

There are different types of pulmonary hypertension, including pulmonary arterial hypertension (PAH). The different types are based on what caused the disease.

What causes pulmonary hypertension?

Pulmonary hypertension can develop on its own or be caused by another condition. Sometimes the cause is unknown or is not clear.

Some of the possible causes include:

Who is more likely to develop pulmonary hypertension?

Certain factors can make you more likely to develop pulmonary hypertension, such as:

What are the symptoms of pulmonary hypertension?

The symptoms of pulmonary hypertension are sometimes hard to recognize and are similar to the symptoms of other medical conditions. So sometimes it can take years for someone to get diagnosed with pulmonary hypertension.

The symptoms of pulmonary hypertension may include:

What other problems can pulmonary hypertension cause?

Pulmonary hypertension can get worse over time and lead to serious problems, including:

How is pulmonary hypertension diagnosed?

To find out if you have pulmonary hypertension, your health care provider:

What are the treatments for pulmonary hypertension?

Often there is no cure for pulmonary hypertension, but treatments can help manage your symptoms. Your provider will work with you to come up with a treatment plan. It will be based on your needs and the cause of the pulmonary hypertension. The plan may include:

NIH: National Heart, Lung, and Blood Institute

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