Marfan Syndrome - Signs, Symptoms and Causes of Marfan Syndrome

RICHARD G November 09, 2019
RICHARD G
11.09.2019

Signs, symptoms and causes of Marfan syndrome. What is Marfan's syndrome? Marfan's syndrome is a congenital disorder that can affect connective tissue in the body. Connective tissue is the fibers that support and bind the organs and other structures in the body. Its existence is also important in assisting the growth and development of the body.
Signs, symptoms and causes of Marfan syndrome
The damage to this connective tissue is due to chemical processes that cause the mutation of genes in the body. Marfan syndrome generally affects the heart, eyes, skin, bones, nervous system, blood vessels, and lungs.
Read Also : How to Treat and Risk of Marfan Syndrome
One of the threats caused by the syndrome is aortic damage, which is the artery that drains blood from the heart to the rest of the body. This syndrome can damage the inner lining of the aorta, and it causes bleeding in the walls of the blood vessels. This condition is dangerous and life-threatening.
Some people with Marfan's syndrome also have mitral valve prolapse, which is the condition in which the heart's mitral valve thickens. This condition results in a faster heartbeat and difficulty breathing.

Even though Marfan's syndrome has not been healed in total, advances in the medical world can help the sufferer to live longer. Therefore, accurate early diagnosis is very important for people with these syndromes and also those with related abnormalities.

How common is Marfan's syndrome?
Marfan's syndrome is a mutation disease in genes that are quite common. This syndrome affects 1 from 5000 to 10,000 people, from various races and ethnic groups.

About 3 out of 4 people with Marfan Syndrome experience this condition as a result of being lowered from the family. However, in some cases, some have become the first person in the family who have this syndrome. The phenomenon is called a spontaneous mutation.

The chance of the disease is handed down back to the next generation is about 50%.

Signs & Symptoms Marfan syndrome

What are the symptoms of Marfan syndrome?
The signs and symptoms of this syndrome are very diverse. In fact, in some cases, this syndrome does not exhibit any obvious symptoms. Generally, the disease develops with increasing age, and the symptoms will be more obvious as the connective tissue is changing.

Some people only experience mild signs and symptoms, but others may experience life-threatening complications.

Below are the signs and symptoms of Marfan's syndrome that may seem:
1. Physical appearance
People with this syndrome are usually thin and tall. His arms, legs, and fingers may look disproportionate and too long for his size.

In addition, the spine of patients with this syndrome may appear twisted, so there are some sufferers who also suffer from kyphoscoliosis. Their joints also feel weak and easy to shift.

Generally, the face of Marfan syndrome is long and sharp in shape, accompanied by a higher palate than normal people.

2. Dental and Bone problems
Sufferers of this syndrome also usually have problems with the teeth and palate. In addition, bones in patients with Marfan syndrome are generally problematic, such as the bone shape of a flat leg, hernia, and bone shifting.

3. Eye problems
Other symptoms that can be seen in this disease are vision problems. This syndrome leads to blurring vision, closer visibility, shifting eye lenses, or differences in shape between the left and right eyes.

4. Changes in the heart and blood vessels
A total of 90% of patients with this syndrome underwent changes in cardiac and vascular function. This syndrome can damage the walls of blood vessels.

It is potentially triggered by the aortic aneurysm, aortic dissection, or rupture of the aorta. Patients may also suffer from bleeding in the head skull or brain aneurysm.

These connective tissue disorders are also at risk of having problems with their heart valves, such as mitral valve prolapse. It is usually indicated by the symptoms of short breath, very tired body, or irregular heartbeat.

5. Changes in the lungs
The lungs can also be affected by this disease. Generally, sufferers of Marfan syndrome also have respiratory problems such as asthma, chronic obstructive lung disease (COPD), bronchitis, pneumonia, or lung collapse.

6. Other signs
Another symptom that may appear in patients with this syndrome is reduced elasticity to the skin. It will also appear as stretch marks in some parts of the skin, although the patient is not experiencing weight gain.

When to go to the doctor?
If you think you or your child may experience Marfan's syndrome, talk to your doctor or pediatrician. Always discuss with a doctor to get the best solution for your situation.

Cause Marfan syndrome

What causes Marfan syndrome?
The main cause of Marfan's syndrome is a disorder or mutation in the gene in charge of forming connective tissues.
Read Also : How to Treat and Risk of Marfan Syndrome
Connective tissue is made of proteins known as fibrillins-1. Errors or mutations can affect the production of fibrillins-1. In addition, mutation of genes resulted in the body producing other proteins called transforming growth factor-beta or TGF-β. It is this Protein that can affect the strength and elasticity of connective tissues.

Connective tissues can be found throughout the body. If connective tissue has been attacked by Marfan's syndrome, there will be many parts of the body affected, such as the heart, blood vessels, bones, joints, eyes, lungs, skin, immune system, and the most dangerous are aortic vessels.

Most people with Marfan's syndrome inherit the gene mutation of the parents suffering from this disorder. Every child of a parent of this syndrome has a 50-50 chance of inheriting an abnormal gene.
In about 25 percent of sufferers of this syndrome, the faulty gene does not originate from parents. In this case, the new mutation develops spontaneously.

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