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 conditions.
About 1 in 5,000 people have Marfan syndrome,
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.
Symptoms of Marfan Syndrome
The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Marfan syndrome features may include:
- Tall and slender build
- Disproportionately long arms, legs and fingers
- A breastbone that protrudes outward or dips inward
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flat feet
Causes of Marfan Syndrome
Marfan syndrome is caused by a defect in the gene that enables the body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25 percent of the people who have Marfan syndrome, the abnormal gene doesn't come from either parent. In these cases, a new mutation develops spontaneously.
The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.
- Aortic aneurysm - The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
- Aortic dissection - The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and can result in a rupture, which may be fatal.
- Valve malformations - People who have Marfan syndrome can have weaker tissue than normal in their heart valves. This can produce stretching of the valve tissue and abnormal valve function. When heart valves don't work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.
Eye complications may include:
- Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken. The medical term for this problem is ectopia lentis, and it occurs in more than half the people who have Marfan syndrome.
- Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
- Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age. Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye's normally clear lens.
Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.
Complications of pregnancy
Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, a woman's heart is pumping more blood than usual, and this can put extra stress on a woman's aorta — which increases the risk of a deadly dissection or rupture.
Homeopathic Treatment of Marfan Syndrome
Homeopathy treats the person as a whole. Treatment is constitutional. It means that homeopathic treatment focuses on the patient as a person, as well as his pathological condition. It balances the energy system, improves immunity and body functions. Some of the homeopathic medicines that can be used for treatment of Marfan Syndrome are:
- Calc phos
- Mag phos