What are the characteristics of Marfan syndrome?

Jan 02, 2025 Source: Cainiu Health
Dr. Tian Hongbo
Introduction
In general, Marfan syndrome, also known as Marfan's syndrome, may present with characteristics such as skin manifestations, joint laxity, high myopia, spinal abnormalities, and cardiovascular system abnormalities. If symptoms of Marfan syndrome occur, it is recommended to seek medical attention promptly and undergo targeted treatment under the guidance of a physician. In daily life, getting plenty of rest is advised.

Generally, Marfan syndrome may present with characteristics such as skin manifestations, joint laxity, high myopia, spinal abnormalities, and cardiovascular system abnormalities. If symptoms of Marfan syndrome appear, timely medical consultation is recommended for targeted treatment under a physician's guidance. Detailed analysis is as follows:

1. Skin Manifestations

Due to alterations in structures such as elastic fibers in the skin caused by the disease, the skin of some patients with Marfan syndrome may be thin and prone to developing striae atrophicae (stretch marks), commonly seen on the chest, shoulders, abdomen, and other areas.

2. Joint Laxity

Patients with Marfan syndrome often have loose joints with a significantly larger range of motion compared to normal individuals. For example, fingers, wrists, and other joints can hyperextend or bend excessively, making joint dislocations more likely during daily activities and increasing the risk of injury.

3. High Myopia

Most patients with Marfan syndrome have high myopia, with refractive errors typically exceeding 600 degrees, causing various inconveniences in daily life such as blurred vision. Additionally, high myopia itself increases the risk of other ocular complications, such as retinal detachment.

4. Spinal Abnormalities

Patients with Marfan syndrome may develop spinal deformities such as scoliosis, which appears as abnormal lateral curvature when viewed from the side. Kyphotic deformity, or posterior protrusion of the spine, may also be present. Severe spinal deformities can affect normal body posture and impair the function of internal organs such as the heart and lungs.

5. Cardiovascular System Abnormalities

As the cardiovascular system is primarily affected in Marfan syndrome, patients may experience cardiovascular abnormalities such as aortic dilation and aortic valve insufficiency. Some patients may also develop various arrhythmias, such as conduction block, pre-excitation syndrome, and atrial fibrillation. If related symptoms occur, timely medical attention is recommended.

In daily life, it is advisable to rest adequately and avoid excessive physical activity to aid in the recovery of patients with Marfan syndrome.

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