October 29, 2015 - Heritable Connective Diseases

Question 1

Marfan Syndrome

Answer 1

A genetic disorder of connective tissue. The most serious manifestations involve defects of the heart valves and the aorta, which may lead to early death if not properly managed.

This is caused by a misfolding of fibrillin-1, which forms elastic fibers in connective tissue.

Question 2

Hypermobility Syndrome

Answer 2

Musculoskeletal complaints with generalised joint laxity in otherwise healthy people.

History: unusual flexibility and good at gymnastics or dancing in childhood. Early onset of flat feet as well as knee pain.

Physical Exam: soft handshake, blue patches in sclerae, rubbery or soft skin, bunions.

Question 3

Treatment for Marfan Syndrome

Answer 3

Life expectency is 40-45. Thoracic aorta surgery can provide life expectation close to normal. Other treatments may be scoliosis surgery, pectus excavatum surgery, and lens and retinal surgery.

Question 4

Ehlers-Danlos Syndrome

Answer 4

Different types. Type IV is vascular and can be very serious.

Signs and symptoms usually affects the joints, skin, and blood vessels.