iron overload syndromes Flashcards
Key lab in iron profile for hemochromatosis and iron overload syndromes
high transferrin saturation
Gold standard for iron overload diagnosis
Liver biopsy with prussian blue stain (see photo online, may have to recognize)
Classic triad for hereditary hemochromatosis
hepatomegaly
hyperpigmentation
diabetes
inheritance pattern for hemochromatosis
autosomal recessive (think of all the heterozygotes referred to clinic)
Screening for patients diagnosed with hemochromatosis
- screen for HCC, diabetes, osteoporosis
Infections hemochromatosis patients are at risk for
- listeria
- yersinia
- vibrio (avoid uncooked seafood)
Other gene mutation that can lead to hemochromatosis
TRF2 (transferrin receptor gene mutation)
Juvenile hemochromatosis gene mutations
- hemojuvelin (HJV)
- hepcidin (HAMP)
Juvenile hemochromatosis clinical features + inheritance pattern
- severe clinical manifestations
- hemochromatosis before age 30
- autosomal recessive
ferroportin disease - 1) inheritance 2) presentation 3) labs
- autosomal dominant
- similar to more common hemochromatosis
- *low transferrin saturation + high hepcidin
African dietary iron overload (bantu syndrome)
Iron leached from containers leading to iron overload
hyperferritinemia cataract syndrome - 1) presentation 2) gene mutation
- bilateral cataracts at a young age without other symptoms of iron overload
- FTL gene (codes for light chain component of ferritin protein)
deferoxamine SE’s
- eye, ear, pulmonary toxicity
deferasirox - 1) SE’s 2) contraindication
- LFT elevation
- GI
- CrCl <40
deferiprone SE to know
- agranulocytosis
Drug and supplement to avoid while on iron chelators
- phenothiazines
- vitamin c supplement
Goal ferritin in hemochromatosis
Under t0
iron transport protein
ferroportin
Mutation responsible for IRIDA
TMPRSS6 (leads to unchecked hepcidin production)
Sideroblastic anemia peripheral smear buzzwords
- dimorphic population of RBCs
- basophilic granules
- pappenheimer bodies
sideroblastic anemia pathophys
- mitochondrial dysfunction
*pathologic iron accumulation in mitochondria of erythroid precurosrs - Iron laden macrophages encircle nucleus and form “ringed sideroblasts”
sideroblastic anemia 1) inheritance pattern 2) most common mutation 3) management
- x linked
- ALAS2
- pyridoxine supplementation
Deferiprone primary SE to remember
- agranulocytosis
- so never used firstline
Classic question for IRIDA
- iron deficiency anemia without response to oral iron
