Tag Archives: Bones

Marfan Syndrome Awareness

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Who has Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Knowing the signs of Marfan syndrome can save lives
People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

April Is National Sarcoidosis Awareness Month

The following information and more can be found on The Foundation For Sarcoidosis Research’s website: www.stopsarcoidosis.org

April Is National Sarcoidosis Awareness Month

Sarcoidosis is an inflammatory disease that can affect almost any organ in the body. It causes heightened immunity, which means that a person’s immune system, which normally protects the body from infection and disease, overreacts, resulting in damage to the body’s own tissues. The classic feature of sarcoidosis is the formation of granulomas, microscopic clumps of inflammatory cells that group together (and look like granules, hence the name). When too many of these clumps form in an organ they can interfere with how that organ functions.

Sarcoidosis is a multi-system disorder.  Symptoms typically depend on which organ the disease affects.  Most often the disease will affect the lungs.

  • General: About one third of patients will experience non-specific symptoms of fever, fatigue, weight loss, night sweats and an overall feeling of malaise (or ill health).
  • Lungs: The lungs are affected in more than 90% of patients with sarcoidosis.  A cough that does not go away, shortness of breath, particularly with exertion and chest pain occur most frequently with the pulmonary form of the disease.
  • Lymph Nodes: Up to 90% of sarcoidosis patients have enlarged lymph nodes. Most often they are in the neck, but those under the chin, in the armpits and in the groin can be affected.  The spleen, which is part of the lymphatic system, can also be affected.
  • Liver: Although between 50% to 80% of patients with sarcoidosis will have granulomas in their liver, most are without symptoms and do not require treatment.
  • Heart: Researchers estimate that cardiac sarcoidosis, affects more than 10 percent of people with sarcoidosis in the United States, and perhaps as mHeart: any as 25 percent.  Sarcoidosis can cause the heart to beat weakly resulting in shortness of breath and swelling in the legs.  It can also cause palpitations (irregular heartbeat).
  • Brain & Nervous System: From 5% to 13% of patients have neurologic disease.  Symptoms can include headaches, visual problems, weakness or numbness of an arm or leg and facial palsy.
  • Skin:  One in four (25%) of patients will have skin involvement.  Painful or red, raised bumps on the legs or arms (called erythema nodosum), discoloration of the nose, cheeks, lips and ears (called lupus pernio) or small brownish and painless skin patches are symptoms of the cutaneous form of the disease.
  • Bones, Joints & Muscles:  Joint pain occurs in about one-third of patients.  Other symptoms include a mass in the muscle, muscle weakness and arthritis in the joints of the ankles, knees, elbows, wrists, hands and feet.
  • Eyes:  Any part of the eye can be affected by sarcoidosis and about 25% of patients have ocular involvement.  Common symptoms include: burning, itching, tearing, pain, red eye, sensitivity to light (photophobia), dryness, seeing black spots (called floaters) and blurred vision.  Chronic uveitis (inflammation of the membranes or uvea of the eye) can lead to glaucoma, cataracts and blindness.
  • Sinuses, Nasal Muscosa (lining) & Larynx:  About 5% of patients will have involvement in the sinuses with symptoms that can include sinusitis, hoarseness or shortness of breath.
  • Other Organs:  Rarely, the gastrointestinal tract, reproductive organs, salivary glands and the kidneys are affected.