Marfan syndrome

Be careful if you are tall and thin and have long arms! Understand the causes, symptoms and treatment of Marfan syndrome

Hyman, the star of the 1984 U.S. silver medal-winning team, had died of a ruptured aorta caused by Marfan syndrome, a congenital condition that exacts a disproportionately large toll among tall, lanky people such as Hyman, who was 6’5″.

Marfan disease”. It is a disease caused by genetic defects. Patients are taller and thinner than ordinary people, with extra slender hands and feet. They are also more likely to have cardiovascular, skeletal, lung, eye and other organ problems than ordinary people, resulting in impaired vision, deformation of the sternum, and There is a higher chance of complications from aortic dissection with a mortality rate of up to 50%.

Explore what causes Marfan syndrome? In addition to the tall and thin appearance of patients with Marfan syndrome, what are the complications that are worth noting? This article explains the causes and symptoms of Marfan disease.

What is Marfan syndrome?

Marfan syndrome is a systemic connective tissue disease. It was first discovered by French pediatrician Manfan in 1896. The genetic lesion causing Marfan syndrome was not discovered until 1991.

Marfan disease is mainly caused by a conflict in the myofibrillar protein (Fibrillin-1, FBN1) gene on chromosome 15. FBN1 is the main component of extracellular microfibrils and plays an important role in forming connective tissue. If lesions occur, it will affect the structure and function of FBN1, leading to abnormal arrangement of connective tissue and causing lesions in various organs of the body.

Is Marfan disease hereditary? How high is the incidence?

Marfan’s disease is a chromosomally dominant inheritance. There is a 1/2 chance that a patient’s child will suffer from this disease. However, in addition to hereditary disease, there are also many patients who suffer from spontaneous gene mutations and have no family history. The prevalence of Marfan disease is 1 in 5,000 to 10,000, and 1/4 of the patients have spontaneous mutations.

Typical symptoms of Marfan syndrome: tall and thin body, long arms

The clinical variation of Marfan syndrome is quite large. Even patients from the same family may have completely different types and severity of symptoms. However, this disease is a progressive clinical manifestation, and most of the symptoms are gradually revealed in adolescence.

Marfan syndrome is characterized by a tall and thin body, slender hands and feet, and soft bones. This is caused by excessive bone growth. The total length of the patient’s arms is usually more than 1.5 times the body length, or the fingers, toes and other bone joints are too long. The phenomenon of relaxation.

Marfan syndrome may cause aortic dissection

Marfan disease has different effects on various organs of the body, as explained below:

  1. Cardiovascular system:
    In the heart, mitral valve or tricuspid valve prolapse and reflux are the main symptoms. Severe neonatal patients may have congestive heart failure and pulmonary hypertension; in terms of blood vessels, the aortic root will be enlarged, leading to aortic dissection. , rupture or pericardial tamponade.
  2. Eyes:
    It may cause lens dislocation (Ectopia lentis) of the eye, or refractive abnormalities, such as deep myopia, astigmatism, retinal detachment, glaucoma, early-onset cataracts, etc.
  3. Musculoskeletal:
    Overgrowth of ribs causes deformation of the chest, forming breasts of chicken and pectus excavatum. In severe cases, it will compress the chest and affect cardiopulmonary function. Patients also often have scoliosis, hip protrusion, flat feet, or underdevelopment of the mandibular and facial bones, causing sleep disorders.
  4. Skin:
    The skin is prone to sagging, and there are also rapid-growing striae on the joints. Newborns and adolescents are prone to recurrent inguinal hernia.
  5. Lungs:
    The terminal alveoli expand to form large alveoli, and about 4 to 15% of patients will develop spontaneous pneumothorax, causing difficulty in breathing.

With early detection and treatment, Marfan disease is less of a problem

With the advancement of medical technology, various new drugs and treatments continue to be introduced, benefiting patients with Marfan’s disease, which is no longer an incurable disease. Through early diagnosis, early treatment, regular medication and follow-up, patients with Marfan disease can often achieve stable control of their condition, and their life span is the same as that of ordinary people.

Marfan’s disease requires appropriate treatment, including immediate correction or preventive medication and surgical treatment of various organ lesions of the patient. The following is a brief list of treatment methods for various organ lesions:

  1. Eye disease:
    Correction of lens dislocation through glasses or surgery.
  2. Skeletal disease:
    Correction of progressive scoliosis with braces or surgery.
  3. Cardiovascular problems:
    Beta-blockers or angiotensin receptor blockers are mainly used to reduce the pressure on the aorta, thereby slowing down the rate of aortic disease. If these two drugs are not tolerated well, calcium blockers or angiotensin converting coenzyme inhibitors may be used instead. If the aorta grows too fast, exceeds 1 centimeter per year, or reaches 5 centimeters in diameter, it is recommended to undergo preventive aortic surgery to avoid aortic aneurysm or aortic dissection in the future.

In terms of life, patients with Marfan syndrome need to reduce strenuous activities such as weight lifting and dumbbells to reduce the chance of aortic dissection. They should still engage in moderate aerobic activities such as brisk walking, jogging or swimming on daily basis to maintain bone and cardiovascular health. healthy.

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