HemoChromatosis

Question 1

What is the epidemiology of hemochromatosis?

Answer 1

Symptoms start to show when iron levels reach greater than 20g

Question 2

Define:

Primary hemochromatosis
Secondary hemochromatosis

Answer 2

Primary: Autosomal recessive with incomplete penetrance

Secondary: caused by iron overload; Transfusion related and ineffective erythropoiesis

Question 3

What are the general symptoms of hemochromatosis?

Answer 3

Fatigue, lethargy, and increased susceptibility to infection

Question 4

Hemochromatosis affect on liver causes what symptoms?

Answer 4

Abdominal pain, hepatomegaly, cirrhosis, and increased risk of hepatocellular carcinoma

Question 5

Pancreas related symptoms of hemochromatosis?

Answer 5

Signs of diabetes

Question 6

Skin related symptoms of hemochromatosis?

Answer 6

Hyperpigmentation, erectile dysfunction, testicular atrophy, loss of libido

Question 7

Joint related symptoms of hemochromatosis?

Answer 7

Arthralgia

Question 8

Heart related symptoms of hemochromatosis?

Answer 8

Cardiac siderosis, arrhythmias, and CHF

Question 9

What is cardiac siderosis?

Answer 9

Accumulation of iron in cardiac tissue

Question 10

What diagnostics are used to determine hemochromatosis?

Answer 10

Increased serum ferritin, genetic testing, increased hepatocellular enzymes, and liver biopsy

Question 11

What is ferritin?
What levels are signs of hemochromatosis in premenopausal patients and for normal patients? (In ng/mL)

Answer 11

Iron storage

Premenopausal: > or = to 200 ng/mL
Normal: > or = to 300 ng/mL

Question 12

What hepatocellular enzymes are measured?

Answer 12

AST and ALT

Question 13

Treatment for hemochromatosis?

(The three Defers)

Answer 13

Deferoxamine, Deferasirox, or Deferiprone