iron overload syndromes

Question 1

Key lab in iron profile for hemochromatosis and iron overload syndromes

Answer 1

high transferrin saturation

Question 2

Gold standard for iron overload diagnosis

Answer 2

Liver biopsy with prussian blue stain (see photo online, may have to recognize)

Question 3

Classic triad for hereditary hemochromatosis

Answer 3

hepatomegaly
hyperpigmentation
diabetes

Question 4

inheritance pattern for hemochromatosis

Answer 4

autosomal recessive (think of all the heterozygotes referred to clinic)

Question 5

Screening for patients diagnosed with hemochromatosis

Answer 5

• screen for HCC, diabetes, osteoporosis

Question 6

Infections hemochromatosis patients are at risk for

Answer 6

• listeria
• yersinia
• vibrio (avoid uncooked seafood)

Question 7

Other gene mutation that can lead to hemochromatosis

Answer 7

TRF2 (transferrin receptor gene mutation)

Question 8

Juvenile hemochromatosis gene mutations

Answer 8

• hemojuvelin (HJV)
• hepcidin (HAMP)

Question 9

Juvenile hemochromatosis clinical features + inheritance pattern

Answer 9

• severe clinical manifestations
• hemochromatosis before age 30
• autosomal recessive

Question 10

ferroportin disease - 1) inheritance 2) presentation 3) labs

Answer 10

• autosomal dominant
• similar to more common hemochromatosis
• *low transferrin saturation + high hepcidin

Question 11

African dietary iron overload (bantu syndrome)

Answer 11

Iron leached from containers leading to iron overload

Question 12

hyperferritinemia cataract syndrome - 1) presentation 2) gene mutation

Answer 12

• bilateral cataracts at a young age without other symptoms of iron overload
• FTL gene (codes for light chain component of ferritin protein)

Question 13

deferoxamine SE’s

Answer 13

• eye, ear, pulmonary toxicity

Question 14

deferasirox - 1) SE’s 2) contraindication

Answer 14

• LFT elevation
• GI
• CrCl <40

Question 15

deferiprone SE to know

Answer 15

• agranulocytosis

Question 16

Drug and supplement to avoid while on iron chelators

Answer 16

• phenothiazines
• vitamin c supplement

Question 17

Goal ferritin in hemochromatosis

Answer 17

Under t0

Question 18

iron transport protein

Answer 18

ferroportin

Question 19

Mutation responsible for IRIDA

Answer 19

TMPRSS6 (leads to unchecked hepcidin production)

Question 20

Sideroblastic anemia peripheral smear buzzwords

Answer 20

• dimorphic population of RBCs
• basophilic granules
• pappenheimer bodies

Question 21

sideroblastic anemia pathophys

Answer 21

• mitochondrial dysfunction
  *pathologic iron accumulation in mitochondria of erythroid precurosrs
• Iron laden macrophages encircle nucleus and form “ringed sideroblasts”

Question 22

sideroblastic anemia 1) inheritance pattern 2) most common mutation 3) management

Answer 22

• x linked
• ALAS2
• pyridoxine supplementation

Question 23

Deferiprone primary SE to remember

Answer 23

• agranulocytosis
• so never used firstline

Question 24

Classic question for IRIDA

Answer 24

• iron deficiency anemia without response to oral iron

Question 25

IRIDA inheritance

Answer 25

autosomal recessive

Question 26

IRIDA physiology

Answer 26

Unchecked hepcidin production

Question 27

IRIDA treatment

Answer 27

• high dose IV iron

Question 28

MCV in sideroblastic anemia

Answer 28

Microcytic