Clinical Significance

Question 1

Osteoporosis
. Elaborate

Answer 1

Reduction in bone density leading to easy fracturing
Results from excessive bone remodelling, or an imbalance with greater osteoclast than osteoblast activity
-Symptoms are common standing fractures, swooped posture from vertebral fractures,- bisphosphonates can reduce rate of bone remodelling and increase bone density

Question 2

Name 3 collagen disorders

Answer 2

. Osteogenesis imperfecta
. Marfan’s syndrome
. Ehlers-Danlos Syndrome

Question 3

Elaborate on osteogenesis imperfecta

Answer 3

Lack of functional type 1 collagen in the body

Causes formation of highly mineralised, brittle bones which break easily

Genetic condition so presents early in life

No cure so lifestyle adaptations are needed to reduce risk of fractures

Question 4

Elaborate on Marfan’s syndrome

Answer 4

Marfan’s syndrome:

Genetic condition where fibrillin is impacted

Causes increased joint and skin flexibility and elasticity

Reduction in spine strength which leads to scoliosis/ abnormal kyphosis/lordosis, can mean abnormal height/size

Can lead to valve flexibility- circulatory problems (reduced cardiac output/ impaired venous return)

Question 5

Elaborate Ehlers-Danlos syndrome:

Answer 5

Ehlers-Danlos syndrome:

Genetic abnormalities with collagen

Formation of abnormally stretchy skin and flexible joints

Can lead to easy joint dislocation and osteoarthritis