Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Sketchy Path: GI/Liver > Sketchy Path: Hereditary Hemochromatosis and Wilson's Disease > Flashcards

Sketchy Path: Hereditary Hemochromatosis and Wilson's Disease Flashcards

1
Q

Why is it the hereditary hemochromatosis is seen much later in women than men? (women around 60/Men around 40)

A

Women lose excess iron in the form of menses, pregnancy, breastfeeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How is hereditary hemochromatosis inherited? What gene?

A

AR
HFE Chromosome 6
HLA-A3
(six pack on the lady)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What happen to the iron absorbed from the intestine?

A

Sits in the erythrocyte until iron is needed by the body then it is released in the blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What does the mutation in hereditary hemochromatosis do to the body?

A

Increases the intestinal absorption of Fe AND increase transferrin to transport iron in blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the major iron carrier in the blood?

A

Tranferrin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

In normal physiology, the liver releases what molecule to tell the body to stop absorbing iron?

A

Hepcidin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Besides stopping the absorption of iron Hepcidin also has what effect on reducing iron levels?

A

Stops macrophages from releasing iron into the circulation

Hepcidin locks Fe INSIDE cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Hepcidin levels in hemochromatosis would be what?

A

LOW

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

In the setting of iron overload, Fe deposits in the tissues in what form?

A

Hemosiderin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Patients with hereditary hemochromatosis are at an increase risk for what?

A

Hepatocellular Carcinoma

from cirrhosis and increase free radicals produced by iron

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are some of the symptoms of Hereditary Hemochromatosis?

A

Hyperpigmentation of the skin
(increase melanin production)
Insulin resistance
(BRONZE DIABETES)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what causes the insulin resistance in Hereditary Hemochromatosis?

A

Fe deposits in the pancreas destroying the beta cells and eventually decreasing its exocrine function as well

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Hereditary Hemochromatosis can lead to what heart conditions?

A

Dilated/restrictive Cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hereditary Hemocromatosis causes what type of hypogonadism? Why?

A

Secondary

Fe deposits in the pituitary leading to decrease sex hormone production

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What causes joint disease in HHC?

A

Calcium Pyrophosphate deposition leading to chondrocalcinosis
(mainly in the MCP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the best initial test for screening patients with HHC?

A

Transferrin Saturation

17
Q

What value is decreased in HHC?

A

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

18
Q

What stain is used in HHC on liver biopsy in the liver?

A

Prussian Blue

19
Q

Organs in HHC will show what kind of deposits?

A

Golden Granules

20
Q

What is used for the treatment of HHC?

A

Phelobotomy

Deferoxamine (chelator)

21
Q

Patient who recieve frequent transfusions are at risk for what?

A

Hemosiderosis

secondary

22
Q

What conditions can cause seconday hemosiderosis?

A

Thalassemia major
Ineffective Erythropoiesis
Alcoholics
(increases Fe overload but still have to eat which doesnt happen)

23
Q

Wilson’s disease is caused by what mutation? What is the inheritance?

A

AR
ATP7B
(hepatocyte ATPase that transports copper)

24
Q

What is low in the serum in Wilson’s Disease?

A

Ceruloplasmin

copper transport -> free copper in blood

25
Q

What is the classic sign of Wilsons Disease?

A

Kayser-Fleischer Rings in the eye

26
Q

Wilson’s Disease can cause what blood disease?

A 
Hemolytic Anemia
(floating copper lyses RBC)
27
Q

What is the most common neurological symptom of Wilson’s Disease?

A

Dysarthria

28
Q

What other neuro symptoms besides dysarthria can Wilson’s cause?

A 
Parkinsonian Features
Tremor
Choreoathetosis
(Hemibalismus)
Dementia
Basal Ganglia Degenration
29
Q

Total Serum Copper is High/Low in the serum?

A

Low since low ceruloplasmin

TOTAL is low

30
Q

What test will you find elevated copper in Wilson’s Disease

A

Urine Copper

FREE Copper

31
Q

How is wilsons disease treated?

A

Penicillamine

chelator

Sketchy Path: GI/Liver (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions