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Marfan syndrome in Adult
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Marfan syndrome in Adult

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Contributors: Casey P. Schukow DO, Tracy Fuhrmann MD, Brian Poligone MD, Susan Burgin MD
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Synopsis

Marfan syndrome : Joint hypermobility, Pectus excavatum, Pneumothorax, Dislocated lens, Striae, Tall stature
Marfan syndrome is a connective tissue disorder that affects multiple organ systems. It is caused by a mutation in the fibrillin-1 (FBN1) gene, which encodes a protein that is a major component of extracellular matrix microfibrils. FBN1 is necessary for normal functioning of the structural framework of tissue. The mutation is typically heterozygous in nature and passed down in an autosomal dominant inheritance pattern. The majority of those affected have a family history of the disease. However, 25% of affected individuals appear to have acquired de novo mutations.

FBN1 is found throughout the body, explaining the numerous manifestations of the syndrome. The most commonly affected organ systems are the cardiovascular, skeletal, and ocular systems. These organ systems are particularly susceptible because they contain an abundant amount of FBN1. Common manifestations include hyperextensible joints, lens dislocation, skeletal abnormalities, and aortic aneurysms.

Cutaneous manifestations are less common, but striae distensae occur in two-thirds of patients. Inguinal or incisional hernias are also more commonly seen in affected individuals. Elastosis perforans serpiginosa is a rare cutaneous feature.

Marfan syndrome has an approximate incidence of 2-3 in 10 000 individuals worldwide without predilection for age, sex, or ethnicity. Clinical features become more apparent with increasing age.

Pediatric Patient Considerations:
This condition is difficult to diagnose in children as many features are age dependent.

Related topic: Cystic medial necrosis

Codes

ICD10CM:
Q87.40 – Marfan's syndrome, unspecified

SNOMEDCT:
19346006 – Marfan syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • MASS phenotype (mitral, aortic, skin, and skeletal) – Similar constellation of findings but does not fit diagnostic criteria for Marfan syndrome.
  • Homocystinuria – Plasma homocysteine elevated, lens displaced downward.
  • Loeys-Dietz aortic aneurysm syndrome – Similar systemic features but more severe aortic dissections, hypertelorism, broad or bifid uvula, and tortuous arteries.
  • Ehlers-Danlos syndrome – Also associated with EPS and hyperextensible skin and joints; may present with poor wound healing and bruises; cardiac abnormalities are less common.
  • Cutis laxa – Hyperextensible skin that remains loose when stretched; associated with pulmonary emphysema, bladder diverticula, and pulmonary artery stenosis.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:12/19/2021
Last Updated:06/20/2022
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Marfan syndrome in Adult
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A medical illustration showing key findings of Marfan syndrome : Joint hypermobility, Pectus excavatum, Pneumothorax, Dislocated lens, Striae, Tall stature
Clinical image of Marfan syndrome - imageId=721737. Click to open in gallery. caption: 'A hyperextensible thumb.'
A hyperextensible thumb.

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