Connective Tissue Diseases

Question 1

Osteogenesis Imperfecta Type I

Answer 1

AD - Type I collagen

Clinical features: multiple fractures, limb deformities, blue sclerae, hearing loss, dental abnormalities

Question 2

Osteogenesis Imperfecta type II

Answer 2

AD

Death in utero or in neonatal period - perinatal lethal OI

Question 3

Classical Ehlers-Danlos Syndrome

Answer 3

Type V collagen and Type I

Hyper extensible skin and going hypermobility

Question 4

Hypermobility Ehlers-Danlos Syndrome

Answer 4

Joint hyper mobility w/o hyper extensible skin

Question 5

Vascular Ehlers-Danlos Syndrome

Answer 5

type III collagen

Arterial rupture, hemorrhages, easy bruising, intracranial aneurysms

Question 6

Alport Syndrome

Answer 6

Type IV collagen

Nephritis and kidney failure
Ears - hearing loss
Eye problems - cataracts, lenticonus (thin capsule around iris)

“Can’t see, can’t pee, can’t hear high C”

Question 7

Marfan syndrome

Answer 7

fibrillin

Hyper elastic joints
disorders of heart valves and aorta
Tall stature - long arms and legs, long fingers (arachnodactyly) = stein berg sign (thumb sticks out when held inside closed fist)
precuts carinatum

Question 8

alpha 1 antitrypsin deficiency

Answer 8

increased degradation of elastin (can’t inhibit elastase)

destruction of elastin in alveoli –> panacinar emphysema

Accumulation of a1-antitrypsin in hepatocytes –> hepatitis, cirrhosis, hepatocellular carcinoma