Hemochromatosis

Question 1

MSK manifestations of hemochromatosis

Answer 1

arthalgia, arthropathy and chondrocalcinosis

Question 2

skin manifestations of hemochromatosis

Answer 2

hyperpigmentation

Question 3

GI manifestations of hemochromatosis

Answer 3

elevated hepatic enzymes with hepatomegaly (early) and cirrhosis (later) and increased risk for HCC

Question 4

endocrine manifestations of hemochromatosis

Answer 4

DM2 and secondary hypogonadism and hypothyroidism

Question 5

cardiac manifestations of hemochromatosis

Answer 5

restrictive or dilated cardiomyopathy and conduction abnormalities

Question 6

infectious manifestations of hemochromatosis

Answer 6

increased susceptibility to listeria, vibro vulnificus, and yersinia enterocolitis

Question 7

how does hemochromatosis cause secondary hypogonadism

Answer 7

via iron accumulation in pituitary gondatrophs will see lower testosterone on labs.

Pts who undergo phlebotomy prior to age 40 will have less side effects of this

Question 8

HFE mutation is ordered because

Answer 8

it helps differentiate the difference between hereditary hemochromatosis and other forms of hepatic iron overload.

Question 9

clinical presentation of joint dx related to hereditary hemochromatosis

Answer 9

see pain in small joints (2nd and 3rd MCP), can involve the wrists, hips, knees and shoulders mild nocturnal arthralgias can resemble osteoarthritis or RA

Question 10

what do we see in hereditary hemochromatosis radiological findings?

Answer 10

narrowed joint space subchondral sclerosis chondrocalcinosis hook like osteophytes on metacarpal heads.

Question 11

DM2, atypical degenerative joint disease and hx of liver function abnormalities

Answer 11

hemochromatosis likely

Question 12

Secondary causes of osteoarthritis include:

Answer 12

trauma, underlying inflammatory arthritis, infection, calcium pyrophosphate deposition disease, metabolic disorders (hemochromatosis)

Question 13

screening test for hemochromatosis is:

Answer 13

serum transferrin saturation

Question 14

What happens in primary hereditary hemochromatosis?

Answer 14

HFE mutations result in hepcidin deficiency and increase ferroportin expression duodenal enterocytes which causes increased Fe absorption and eventual organ injury because there’s no physiological mechanism to allow for excreting excess Fe.

Question 15

hemochromatosis related arthropathy

Answer 15

affects 2nd or third metacarpophlangeal joints and may see “hooked” osteophytes

Question 16

Diagnosis of hematochromatosis

Answer 16

transferrin saturation > than 45% can see a n elevated serum ferritin level.

Question 17

bronze diabetes is a result of

Answer 17

pituitary infiltration of iron and see secretion of melanin

Question 18

Is liver biopsy necessary for diagnosis of hemachromatosis?

Answer 18

no only done if the pt also has HCV or ETOH drinker to rule out other causes for liver abnormality

Question 19

what should be done for 1st degree relatives with hereditary hemachromatosis?

Answer 19

they should get counseled on risks and advised to get medical evaluation and screening. Asymptomatic family members with hemochromatosis and serum ferritin level <500 can be safely observed.

Question 20

goal phlebotomy target for treatment of hemachromatosis?

Answer 20

twice weekly phlebotomy with goal ferritin level of 50-100 Once goal is reached can have maintenance phlebotomy of 2-6 per year check ferritin level every 3 months.

Question 21

prognosis for hereditary hemachromatosis

Answer 21

normal life span if gets phlebotomy and caught early one prior to development of cirrhosis and cardiac dx

Question 22

Causes of secondary hemaochromatosis (acquired iron overload)

Answer 22

chronic blood transfusions (thalassemia minor pts, certain sickle cell pts) myelodysplastic syndrome porphyria cutanea tardea

Question 23

what to do for people who have secondary hemachromatosis from thalassemia, sickle cell or meylodysplastic syndrome?

Answer 23

don’t do phlebotomy as they are already anemic use iron chelator therapy like: deroxamine (IV) or oral deferasirox or deferiprone Monitor serum ferritin levels

Question 24

how to treat secondary hemachromatosis in porphyria cutanea tarda

Answer 24

phlebotomy works well. Seen with liver dx, HCV, and there are cutaneous blisters on hands and hypertrichosis.