Marfan Syndrome
Marfan Syndrome
Marfan syndrome is a genetic disorder affecting connective tissue, caused primarily by mutations in the FBN1 gene, which encodes fibrillin-1, a protein essential for the formation of microfibrils that provide strength and elasticity to connective tissues126. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene is sufficient to cause the disorder123. About 25% of cases arise from new (de novo) mutations without a family history123.
Incidence and Inheritance
- Occurs in approximately 1 in 5,000 individuals worldwide17.
- Both males and females are equally affected37.
- Each child of an affected parent has a 50% chance of inheriting the mutation1237.
Pathophysiology
Mutations in FBN1 reduce functional fibrillin-1, impairing microfibril formation and disrupting tissue elasticity and strength18. This also affects regulation of growth factors like transforming growth factor-beta (TGF-β), leading to abnormal tissue growth and instability1268. The defective connective tissue impacts multiple systems, especially the skeleton, eyes, cardiovascular system, skin, and lungs27.
Clinical Features
- Skeletal: Tall stature, long limbs and fingers (arachnodactyly), scoliosis, chest wall deformities.
- Cardiovascular: Aortic root dilation, aneurysm, and risk of dissection; mitral valve prolapse.
- Ocular: Lens dislocation (ectopia lentis), myopia.
- Others: Skin stretch marks, lung complications (pneumothorax), and dural ectasia.
Diagnosis and Management
Diagnosis is based on clinical criteria, family history, and genetic testing for FBN1 mutations128. Management includes regular cardiovascular monitoring, medications to reduce aortic stress (e.g., beta-blockers), and surgical interventions when necessary237. Advances in treatment have improved life expectancy and quality of life for affected individuals2.
Summary Table
| Aspect | Details |
|---|---|
| Gene | FBN1 (fibrillin-1) |
| Inheritance | Autosomal dominant; 75% inherited, 25% de novo mutations |
| Incidence | ~1 in 5,000 globally |
| Main Systems Affected | Skeletal, cardiovascular, ocular, skin, lungs |
| Key Risks | Aortic aneurysm and dissection, lens dislocation |
| Management | Cardiovascular monitoring, medications, surgery, genetic counseling |
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References:1 MedlinePlus Genetics: Marfan syndrome2 NIAMS: Marfan Syndrome – Symptoms & Causes3 Mayo Clinic: Marfan Syndrome – Symptoms and Causes6 NORD: Marfan Syndrome7 The Marfan Foundation: Marfan Syndrome8 Medscape Reference: Genetics of Marfan Syndrome
