11. Haemochromatosis: Difference between revisions
(Created page with "'''Organ''': Liver, small intestine, kidney '''Description''': We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue. '''Diagnosis''': Haemochromatosis '''Causes''': * For primary haemochromatosis: ** HFE-gene missense mutation * For secondary haemochromatosis: ** Haemolysis (autoimmune hemolytic anaemia) ** Repeated blood transfusions ** Massively incre...") |
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'''Organ''': Liver, small intestine, kidney | [[File:Haemochromatosis preparation.png|thumb|Haemochromatosis preparation]]'''Organ''': Liver, small intestine, kidney | ||
'''Description''': | '''Description''': We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue. | ||
We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue. | |||
'''Diagnosis''': Haemochromatosis | '''Diagnosis''': Haemochromatosis | ||
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'''Theory''': | '''Theory''': | ||
In hemosiderosis the hemosiderin pigment is accumulating in cells but there is no tissue damage. In haemochromatosis however, the pigment is accumulating ''and'' there is tissue damage. | In hemosiderosis the hemosiderin pigment is accumulating in cells but there is no tissue damage. In haemochromatosis however, the pigment is accumulating ''and'' there is tissue damage. These preparations are not stored in formalin but in Prussian blue, a stain that stains iron blue. The liver, being a metabolic organ, is logically the bluest. However, since hemochromatosis is a systemic process, all organs are filled with iron to some extent, which is why the kidney and small intestine are also stained blue. | ||
These preparations are not stored in formalin but in Prussian blue, a stain that stains iron blue. The liver, being a metabolic organ, is logically the bluest. However, since hemochromatosis is a systemic process, all organs are filled with iron to some extent, which is why the kidney and small intestine are also stained blue | |||
Secondary haemochromatosis can be caused by multiple factors, none of which have anything to do with the HFE gene. The causes are listed above. | We distinguish primary and secondary haemochromatosis. The primary (or hereditary) type is the most severe and is caused by a missense mutation in the HFE-gene. The HFE protein usually stops the absorption of iron when the transferrin receptor is saturated. However, in this type of mutation the HFE gene won’t stop the absorption of iron in this case, which causes iron overload in the body. Secondary haemochromatosis can be caused by multiple factors, none of which have anything to do with the HFE gene. The causes are listed above. | ||
Both types of haemochromatosis have the same clinical consequences. The disease is also called “bronze diabetes” because of its symptoms. | Both types of haemochromatosis have the same clinical consequences. The disease is also called “bronze diabetes” because of its symptoms. | ||
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Diabetes occurs because of the damage of the pancreatic islets due to the hemosiderin and the skin is discoloured because of hemosiderin in the skin. | Diabetes occurs because of the damage of the pancreatic islets due to the hemosiderin and the skin is discoloured because of hemosiderin in the skin. | ||
[[Category:Pathology 1 - Macropreparations]] | [[Category:Pathology 1 - Macropreparations]] | ||
Latest revision as of 10:47, 5 July 2024
Organ: Liver, small intestine, kidney
Description: We can see a slice of liver in the front, a piece of small intestine behind it, and a kidney in the bottom. The organs are blue or bluish. The liver is especially blue.
Diagnosis: Haemochromatosis
Causes:
- For primary haemochromatosis:
- HFE-gene missense mutation
- For secondary haemochromatosis:
- Haemolysis (autoimmune hemolytic anaemia)
- Repeated blood transfusions
- Massively increased iron reabsorption
- Decreased iron utilization
Theory:
In hemosiderosis the hemosiderin pigment is accumulating in cells but there is no tissue damage. In haemochromatosis however, the pigment is accumulating and there is tissue damage. These preparations are not stored in formalin but in Prussian blue, a stain that stains iron blue. The liver, being a metabolic organ, is logically the bluest. However, since hemochromatosis is a systemic process, all organs are filled with iron to some extent, which is why the kidney and small intestine are also stained blue.
We distinguish primary and secondary haemochromatosis. The primary (or hereditary) type is the most severe and is caused by a missense mutation in the HFE-gene. The HFE protein usually stops the absorption of iron when the transferrin receptor is saturated. However, in this type of mutation the HFE gene won’t stop the absorption of iron in this case, which causes iron overload in the body. Secondary haemochromatosis can be caused by multiple factors, none of which have anything to do with the HFE gene. The causes are listed above.
Both types of haemochromatosis have the same clinical consequences. The disease is also called “bronze diabetes” because of its symptoms.
- Diabetes
- Skin discoloration
- Endocrine organ dysfunction (hypophysis, adrenal gland)
- Liver cirrhosis
Diabetes occurs because of the damage of the pancreatic islets due to the hemosiderin and the skin is discoloured because of hemosiderin in the skin.