Rheumatology

Question 1

What type of collagen defect causes vascular Ehlers-Danlos syndrome?

Answer 1

Type III collagen defect

Vascular Ehlers-Danlos syndrome leads to weakened skin and blood vessels.

Question 2

What defect causes kyphoscoliotic Ehlers-Danlos syndrome (kEDS)?

Answer 2

Defect in lysyl hydroxylase

kEDS leads to connective tissue fragility, scoliosis, and muscle weakness.

Question 3

What genetic mutation causes Marfan syndrome?

Answer 3

Mutation in the fibrillin-1 gene

Marfan syndrome is associated with tall stature and cardiovascular issues.

Question 4

What type of collagen defects are most commonly associated with Osteogenesis Imperfecta (OI)?

Answer 4

Type I collagen defects

OI primarily affects bones, leading to brittle bones and frequent fractures.

Question 5

What type of collagen defects lead to Alport syndrome?

Answer 5

Type IV collagen defects

Alport syndrome primarily causes progressive renal failure and sensorineural hearing loss.

Question 6

Which HLA is strongly associated with Behcet’s syndrome?

Answer 6

HLA B51

Behcet’s syndrome has a triad of aphthous oral ulcers, genital lesions, and recurrent eye inflammation.