Sketchy Path: Hereditary Hemochromatosis and Wilson's Disease Flashcards
Why is it the hereditary hemochromatosis is seen much later in women than men? (women around 60/Men around 40)
Women lose excess iron in the form of menses, pregnancy, breastfeeding
How is hereditary hemochromatosis inherited? What gene?
AR
HFE Chromosome 6
HLA-A3
(six pack on the lady)
What happen to the iron absorbed from the intestine?
Sits in the erythrocyte until iron is needed by the body then it is released in the blood
What does the mutation in hereditary hemochromatosis do to the body?
Increases the intestinal absorption of Fe AND increase transferrin to transport iron in blood
What is the major iron carrier in the blood?
Tranferrin
In normal physiology, the liver releases what molecule to tell the body to stop absorbing iron?
Hepcidin
Besides stopping the absorption of iron Hepcidin also has what effect on reducing iron levels?
Stops macrophages from releasing iron into the circulation
Hepcidin locks Fe INSIDE cells
Hepcidin levels in hemochromatosis would be what?
LOW
In the setting of iron overload, Fe deposits in the tissues in what form?
Hemosiderin
Patients with hereditary hemochromatosis are at an increase risk for what?
Hepatocellular Carcinoma
from cirrhosis and increase free radicals produced by iron
What are some of the symptoms of Hereditary Hemochromatosis?
Hyperpigmentation of the skin
(increase melanin production)
Insulin resistance
(BRONZE DIABETES)
what causes the insulin resistance in Hereditary Hemochromatosis?
Fe deposits in the pancreas destroying the beta cells and eventually decreasing its exocrine function as well
Hereditary Hemochromatosis can lead to what heart conditions?
Dilated/restrictive Cardiomyopathy
Hereditary Hemocromatosis causes what type of hypogonadism? Why?
Secondary
Fe deposits in the pituitary leading to decrease sex hormone production
What causes joint disease in HHC?
Calcium Pyrophosphate deposition leading to chondrocalcinosis
(mainly in the MCP)
What is the best initial test for screening patients with HHC?
Transferrin Saturation
What value is decreased in HHC?
TIBC
(Total Iron binding capacity)
Decreases because as the body sense there is too much iron starts to decrease transferrin on top of the fact that alot of transferrin is being used
What stain is used in HHC on liver biopsy in the liver?
Prussian Blue
Organs in HHC will show what kind of deposits?
Golden Granules
What is used for the treatment of HHC?
Phelobotomy
Deferoxamine (chelator)
Patient who recieve frequent transfusions are at risk for what?
Hemosiderosis
secondary
What conditions can cause seconday hemosiderosis?
Thalassemia major
Ineffective Erythropoiesis
Alcoholics
(increases Fe overload but still have to eat which doesnt happen)
Wilson’s disease is caused by what mutation? What is the inheritance?
AR
ATP7B
(hepatocyte ATPase that transports copper)
What is low in the serum in Wilson’s Disease?
Ceruloplasmin
copper transport -> free copper in blood
What is the classic sign of Wilsons Disease?
Kayser-Fleischer Rings in the eye
Wilson’s Disease can cause what blood disease?
Hemolytic Anemia (floating copper lyses RBC)
What is the most common neurological symptom of Wilson’s Disease?
Dysarthria
What other neuro symptoms besides dysarthria can Wilson’s cause?
Parkinsonian Features Tremor Choreoathetosis (Hemibalismus) Dementia Basal Ganglia Degenration
Total Serum Copper is High/Low in the serum?
Low since low ceruloplasmin
TOTAL is low
What test will you find elevated copper in Wilson’s Disease
Urine Copper
FREE Copper
How is wilsons disease treated?
Penicillamine
chelator
