What is Marfan syndrome?
Disease description:
I recently heard about a genetic disorder called Marfan syndrome and would like to learn more. I want to understand what this disease is, what symptoms it presents, and how it is inherited.
Doctor's answer (1)
Dr. Tian Hongbo
Marfan syndrome is a congenital, hereditary connective tissue disorder that primarily affects the skeleton, eyes, cardiovascular system, and lungs.
Characteristics include increased height, long and slender limbs, abnormally elongated fingers and toes, as well as scoliosis or chest wall deformities and a fatigued facial appearance. Ocular problems may include lens dislocation, leading to enophthalmos and increased risks of glaucoma and cataracts. Cardiovascular manifestations commonly involve aortic aneurysms and aortic dissections, which are the primary causes of mortality in affected individuals. Additionally, patients may experience pulmonary complications such as emphysema and pneumothorax.
Marfan syndrome is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant pattern, with an estimated prevalence of 0.04% to 0.1%. Diagnosis is primarily based on clinical features, the triad of skeletal, ocular, and cardiovascular manifestations, and family history, and is confirmed through genetic testing. Early detection and early treatment are crucial for management. If cardiovascular involvement occurs, surgical intervention may also be considered.
