Why do many geniuses with long limbs and amazing bones die young? The culprit is this rare disease

"Young man, I see that you have amazing bones and are a rare martial arts genius. It is up to you to maintain world peace." This is a line from the movie "Kung Fu." Friends who are familiar with martial arts must be familiar with similar descriptions. In reality, there is indeed such a group of people who have "amazing bones and long limbs." This is a rare genetic disease called Marfan syndrome. Although they are not "martial arts geniuses," many of them have shown their talents in sports, so they are also called "genius disease."

What is Marfan syndrome? Marfan syndrome, also known as spider finger (toe) syndrome, is a congenital hereditary connective tissue disease, which is inherited as an autosomal dominant trait. People with this disease often have slender limbs, fingers, and toes, and are significantly taller than ordinary people. They show amazing talent in sports, so it is also called "genius disease."

Marfan syndrome is often accompanied by lesions of the heart and large blood vessels, so many patients are prone to sudden death. For example, the famous American female volleyball player Fran Heyman, my country's outstanding men's volleyball deputy attacker Zhu Gang, and former Chinese women's volleyball national player Huo Xuan all died of Marfan syndrome.

What symptoms should alert you to Marfan syndrome? Marfan syndrome often affects multiple systems, most commonly the skeletal, cardiovascular, eye, and neuromuscular systems.

Musculoskeletal system

The musculoskeletal system of patients with Marfan syndrome is characterized by "strange bones and long limbs". They are often tall, with unusually long arms and hands hanging down to their knees. However, their muscles are not well developed, and they often suffer from patellar dislocation and hip dislocation.

Heart and great vessels

The main cause of sudden death in patients with Marfan syndrome is that their cardiovascular system is often affected, including congenital vascular malformations, aortic dilatation and heart valve insufficiency.

Not long after I started working, I encountered a patient with a ruptured ascending aortic aneurysm. Her scream is still fresh in my memory. This type of ruptured ascending aortic aneurysm is often a critical condition, and sometimes it is too late to treat it even in the hospital.

Eyes and face

Some patients with Marfan syndrome will experience eye discomfort, ranging from photophobia and flashes of light in mild cases to lens dislocation, ectopia, high myopia, and even retinal detachment in severe cases.

How to prevent and treat Marfan syndrome? As a genetic disease, early diagnosis and treatment of Marfan syndrome becomes particularly important.

For patients with Marfan syndrome, what they care about most is whether they can give birth to a healthy baby. At this time, we can use genetic testing to learn the gene type in the patient's body, so as to make a clear genetic diagnosis. A clear genetic diagnosis provides strong evidence for the diagnosis of diseases in future generations, which can minimize the incidence and mortality rate. Therefore, premarital genetic counseling and prenatal examinations are crucial for patients with Marfan syndrome.

Many patients with Marfan syndrome are unaware of their condition before the disease occurs. Once the disease occurs and the aortic aneurysm ruptures, it is often too late to treat it. Therefore, people who suspect they have symptoms of heart, great blood vessels, bones, muscles, eyes, etc. must go to the hospital for relevant examinations in time. Electrocardiogram, cardiac color ultrasound, and thoracic and abdominal aorta CTA are important for the early detection of Marfan syndrome.

Once Marfan syndrome is diagnosed, timely examination of the thoracic and abdominal aorta should be performed to determine the location and extent of the lesion. For patients with aortic root aneurysm and aortic dissection, surgical intervention can be performed to promptly remove the "time bomb" in the body.