Definition: Marfan syndrome (MFS) is a multi-systemic genetic disorder affecting connective tissue.
Characteristics: Individuals are typically tall, thin, with long limbs, fingers, and toes. They often have flexible joints and may experience complications in the heart, aorta, eyes, bones, and lungs.
Severity: Symptoms vary in severity among individuals.
Causes
Genetic Mutation: Caused by mutations in the FBN1 gene, which affects fibrillin, a component of connective tissue.
Inheritance: Autosomal dominant pattern; 75% inherited from a parent, 25% from new mutations.
Symptoms and Complications
Physical Characteristics: Tall stature, long limbs, flexible joints, scoliosis, and abnormal sternum shape.
Ocular: Lens dislocation, myopia, risk of early glaucoma and cataracts.
Cardiovascular: High risk of mitral valve prolapse, aortic aneurysm, and aortic dissection.
Lung Issues: Pneumothorax, sleep apnea, and other lung diseases.
Other: Dural ectasia affecting the spinal cord, pain in joints, bones, muscles, and skin stretch marks.
Diagnosis
Ghent Criteria: Diagnosis is based on a combination of clinical evaluation and genetic testing.
Family History: Important for diagnosis.
Treatment and Management
Medications: Beta blockers, calcium channel blockers, and ACE inhibitors to manage cardiovascular symptoms.
Surgical Interventions: May be needed for aortic repair or valve replacement.
Lifestyle Recommendations: Avoid strenuous activities that stress the heart and aorta.
Prognosis
Life Expectancy: Generally normal with proper management.
Monitoring: Regular check-ups for heart and aorta health.
Epidemiology
Prevalence: Affects 1 in 5,000 to 10,000 individuals worldwide.
Historical Context
Discovery: Named after Antoine Marfan, who first described it in 1896.
Notable Cases
Public figures and historical figures have been suspected or confirmed to have Marfan syndrome, though some cases are speculative or refuted.
Differential Diagnosis
Must be distinguished from similar conditions like Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and others through genetic testing and clinical evaluation.
Revised Ghent Nosology (2010)
Updated diagnostic criteria emphasizing genetic testing and systemic score evaluation to confirm diagnosis.