52: Hemochromatosis - Frush

Question 1

hemochromatosis causes systemic iron overload due to decrease in ______ production

Answer 1

hepcidin

• inherited homozygous mutation C282Y mutation in HFE gene on chromosome 6

Question 2

what tests would you consider if you suspect hemochromatosis?

Answer 2

• serum iron
• total iron binding capacity
• transferrin saturation (serum iron/ TIBC X100)
• serum ferritin
• genetic testing

Question 3

pathology of hemochromatosis

Answer 3

due to chronic iron overload

diabetes - pancreas, endocrine glands
cirrhosis- liver
heart failure
arthropathy

Question 4

_____ of patients will be affected by arthropathy

Answer 4

2/3

it will be the presenting symptom for 1/3 (presents similar to osteoarthritis, RA, calcium pyrophosphate deposition disease)

Question 5

unique characteristics for hemochromatosis compared to other arthropathies

Answer 5

• patients younger
• pain linked to motion and limitation of range of motion
• arthritis characteristically at 2nd and 3rd metacarpophalangeal joint

Question 6

Radiographic findings for hemochromatosis

Answer 6

• subchondral schlerosis (white area of bone under cartilage)
• hook like osteophytes
• subchondral cysts and geodes (dark spots)
• Chondrocalcinosis
• osteoporosis

Question 7

what is chondrocalcinosis?

Answer 7

** not seen in osteoarthritis

cartilage starts to calcify - see what spots in the joint space

Question 8

most common affected joints ***

Answer 8

2nd and 3rd metacarpal phalangeal joints

Question 9

iron deposits often found in …

Answer 9

cartilage

synovia and synovial lining cells

Question 10

treatment hemochromatosis (4)

Answer 10

phlebotomy (helps organ damage but not arthropathy)
NSAIDS
Steroid injections
Joint replacement

Question 11

T1 ___- is white

T2 _____- is white

Answer 11

bone

fluid