Hemochromatosis Genetics
Hemochromatosis Pathology and labs
Hemochromatosis Symptoms
Lead Poisoning Patho and Treatment
Lead Poisoning Symptoms and Diagnosis
100
Hemochromatosis is this kind of inherited disease
What is autosomal recessive
100
HFE encodes for a transmembrane protein that does this
What is regulation of hepcidin (iron storage hormone)
100
What age group is commonly affected by hemochromatosis?
What is >50 years old
100
What is the safe blood lead level?
What is none
100
Describe an abrupt presentation of lead poisoning
What is vomiting, seizures, AMS
200
This is the mutated gene that most commonly causes hereditary hemochromatosis
What is HFE
200
Hepcidin regulates iron storage by doing what?
What is binding to ferroportin receptors and blocking iron export from macrophages and villous enterocytes
200
Describe the skin findings in someone with hemochromatosis
What is slate grey, increased bronze coloring
200
What population is most at risk for lead poisoning?
What is children
200
Describe a presentation chronic of lead poisoning
What is growth retardation, cognitive deficits, developmental delay
300
This is the function of the MC gene that causes hemochromatosis
What is production of hepcidin
300
What are 3 treatments for hemochromatosis?
What is phlebotomy, PPI, chelating agents like deferoxamine
300
List the MC early symptoms of hemochromatosis
What is fatigue, arthralgias
300
How does iron deficiency enhance the effects of lead toxicity?
What is gut increases absorption of iron to compensate for low iron and ends up increasing lead as well
300
What type of anemia is caused by lead poisoning
What is microcytic hypochromic
400
Who should be screened for hemochromatosis?
What is first degree family members of those with hemochromatosis
400
These labs will be increased in those with hemochromatosis
What is serum Fe, serum transferrin saturation, tIBC, ferritin
400
List the late symptoms of hemochromatosis
What is arthropathy, hepatomegaly, hepatic dysfunction, diabetes mellitus, ED, cardiac enlargement, "iron fist"
400
How do you treat lead poisoning?
What is chelation and removal of offending agents
400
What type of abnormality would be seen on a peripheral smear that would indicate lead poisoning?
What is basophilic stippling
500
Hereditary hemochromatosis is most common in this population
What is caucasians
500
In addition to iron tests, these tests should be performed in hemochromatosis patients
What is lfts, MRI/CT, liver biopsy
500
Which gender experiences hemochromatosis earlier and why?
What is men because women phlebotomize monthly and get rid of excess iron
500
At what age are children screened for lead poisoning?
9-12 months and 2 years
500
Name the two radiographical indications of lead poisoning
What is radioopaque substances in stomach and lead lines on bones
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