Hemochromatosis
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Hemochromatosis
Pathology
Peritoneum and peritoneal cavity
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Gastrointestinal system pathology review
Congenital gastrointestinal disorders: Pathology review
Esophageal disorders: Pathology review
GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review
Inflammatory bowel disease: Pathology review
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Pancreatitis: Pathology review
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Assessments
Hemochromatosis
Flashcards
0 / 21 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
27 pages
Flashcards
Hemochromatosis
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
If untreated, this patient’s condition would most likely give rise to which of the following liver findings?
Memory Anchors and Partner Content
External References
First Aid
2022
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2016
Arthropathy
hemochromatosis p. 404
Autosomal recessive disorders
hemochromatosis p. 404
Chelation
hemochromatosis p. 404
Chromosome abnormalities
hemochromatosis p. 404
Cirrhosis p. 398
hemochromatosis p. 404
Deferasirox
hemochromatosis p. 404
Deferiprone
hemochromatosis p. 404
Deferoxamine
hemochromatosis p. 404
Diabetes mellitus p. 352-360
hemochromatosis p. 404
Dilated cardiomyopathy p. 317, 318, 481
hemochromatosis p. 404
Hemochromatosis p. 404
calcium pyrophosphate deposition disease p. 477
cardiomyopathy with p. 317
chromosome association p. 62
free radical injury p. 213
hepatocellular carcinoma and p. 401
HLA-A3 and p. 98
Hepatocellular carcinomas p. 401
hemochromatosis p. 404
HFE gene
hemochromatosis and p. 404
Hyperpigmentation
hemochromatosis p. 404
Hypogonadism
hemochromatosis p. 404
Iron
in hemochromatosis p. 404
Phlebotomy
for hemochromatosis p. 404
Restrictive cardiomyopath
hemochromatosis p. 404
External Links
Transcript
Content Reviewers
Rishi Desai, MD, MPHHemochromatosis is a metabolic disorder where the body absorbs too much iron from the food you eat.
This accumulation of iron leads to elevated iron in the blood and poisoning of tissues in the liver, pancreas, heart, pituitary gland, joints and skin.
The root -chromat- actually refers to color or the darkening of the skin that happens when iron is deposited into it.
If we take a close look at our red blood cells, we’ll notice that they’re loaded with millions of copies of the same exact protein called hemoglobin, which binds to oxygen and turns our blood cells into little oxygen transporters, and basically allow us to move oxygen to all the tissues in our body.
If we take an even closer look at those hemoglobin proteins, we’ll find that they’re made of four heme molecules, which have, right in the middle, iron.
This iron molecule is what binds to oxygen, so without iron, we probably wouldn’t fare too well, right? Right.
Normally, you actually lose a small amount of iron every day, about 1 mg, some in the sweat, some in shedded skin cells, and some in shedded cells in the gastrointestinal tract.
Most of us, through the diet, take in 10-20 mg of iron every day, and absorb about 10% of that, so 1-2 mg, which is perfect!
People with hemochromatosis, though, absorb an unusually high amount of iron, sometimes as much as 4 mg per day, even though you probably only need about 1 mg to even out your losses, right?
You’d think that absorbing more of something is good, but in this case, a net gain of about 3 mg a day comes out to about 1 g per year of excess iron in your body, leading to more than 20 g by age 40!
Most of this iron you hold on to is deposited in your organs, most notably the liver, but also in your pancreas, your heart, joints, skin, and pituitary gland.
This process of depositing iron into organs is called hemosiderosis. But hey, a little hemosiderosis over the course of a lifetime never hurt anyone, right? Wrong!
Unfortunately, all this extra iron does start doing some serious damage because iron in the body is actually pretty good at generating free radicals through the fenton reaction.
The fenton reaction is where molecules of iron 2+ are oxidized by hydrogen peroxide, producing iron 3+ and the hydroxyl radical and hydroxide ion as byproducts; now, iron 3+ can then be reduced back to iron 2+ via hydrogen peroxide again, creating a peroxide radical and a proton, and then the cycle repeats, creating this like endless loop of free radical generation.
Sources
- "The transferrin receptor: the cellular iron gate" Metallomics (2017)
- "Diagnosis and Treatment of Genetic <i>HFE</i>-Hemochromatosis: The Danish Aspect" Gastroenterology Research (2019)
- "Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin" Gastroenterology (2015)
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
- "Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases" Hepatology (2011)
- "Screening for Hereditary Hemochromatosis: Recommendations from the American College of Physicians" Annals of Internal Medicine (2005)
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