Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)

Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)

This video reviews the various liver metabolic disorders, such as Hereditary Hemachromatosis, Wilson's Disease, and Alpha-1 Anti-Trypsin for the USMLE Step 1.

HEREDITARY HEMOCHROMATOSIS
Secondary can be casued by patient constantly getting trasnfusion, parenteral, and blood disorders
In primary hereditary hemochromatosis you have a defect on the HFE Gene on chromsome 6. You can have a mutation C282Y or H63D. Either one of these mutation can lead to primary hereditary hemochromatosis. Also associated with HLA-A3. HFE gene regulates a protein which regulates iron absorption form the gut. There is increased iron absorption that can't be accomodated. Treatment is constant phlebotomy or iron chleators such as deforoxamine or defurosirox.

Iron toxicity will lead to increased free radicals and this can increase collagen formation and these is the pathology underying hereditary hemachromatosis. You can get micronodular cirrhosis and diabetes mellitus. You may also get bronzing of the skin as the Iron incorporates into melanin and leads to pigmentation. You may also get arrythmia and Heart failure. Joint pain (arthritis) due to pseudogout. There is also chance of bein infertile and hypogonadism

Labs - you will have high iron level, high ferritin level and decreased TIBC.

WILSON'S Disease
This is an accumulaiton of Copper.
The body normally deals with copper by absorbing from gut and in liver binds with ceruloplasmin which is then excreted into plasma and then goes into tissue. Then broken down into proteins and sent through the bile and excreted.

Gene defect on 13 leads to Wilson's Disease. Pathogenesis is that it can't incorporate copper into ceruloplasmin. Decrease biliary excretion of copper. This will cause copper to back up and then there is an increased in serum levels of copper.

It may accumulate to in liver to cause cirrhosis, cornea to cause keyser fleischer rings. It may lead to psychosis by accumulating in the brain. It may also leads to parkinson's type tremor

WILSON'S DISEASE LAB
Low ceruloplasmin, high hepatic concentration. Low copper excretion
Treated with D-Penicillamine.

ALPHA 1 ANTI-TRYPSIN
Alpha-1 Anti-trypsin is an important protein because it can deactivate protease, elastase, cathepsin and proteinase. This is important because all of these proteins are involved in breaking things down. Defect is in protein migration. When it goes from ER to Golgi Apparatus and this can lead to accumulation of anti-trypsin in the cell and it can't be used.

CLINICAL EFFECTS of Alpha-1 Anti-Trypsin.
Primary problems is that you will have emphysema and bronchiectasis. Eventually lead to liver damage. Cutaneous folliculitis. It may also lead to arterial aneurysms and also associated with Wegener's Granulomatosis.

Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)
Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)
Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)
Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)
Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)

Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)

Liver Metabolic Disorders (Hereditary Hemochromatosis, Wilson's Disease, Alpha 1 Anti-trypsin)

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