Hemochromatosis: Difference between revisions
No edit summary |
Jakubkvasnak (talk | contribs) No edit summary |
||
| (4 intermediate revisions by 4 users not shown) | |||
| Line 2: | Line 2: | ||
'''Hereditary''' hemochromatosis (also '''genetic hemochromatosis''', abbreviated '''HH''' or '''GH''') is the most common monogenically transmitted disease, which manifests itself after a long period of time diseases (40 years and over). | '''Hereditary''' hemochromatosis (also '''genetic hemochromatosis''', abbreviated '''HH''' or '''GH''') is the most common monogenically transmitted disease, which manifests itself after a long period of time diseases (40 years and over). | ||
It occurs with an incidence of 2-5/1,000 inhabitants, when the incidence of [[heterozygotes]] for this disease is 1:10. | It occurs with an incidence of 2-5/1,000 inhabitants, when the incidence of [[heterozygotes]] for this disease is 1:10. | ||
<big>'''Hemochromatosis:'''</big> {{Video | url=https://youtu.be/sMR1YZTmIYI}} | |||
The essence of hemochromatosis is a '''disruption of the HFE gene''' on the 6th chromosome, which leads to '''excessive storage of iron''' in hepatocytes. Iron is excessively reabsorbed in the duodenum. The disease is autosomal recessive with incomplete penetrance. An excess of iron is of course '''toxic''', because on the basis of [[Fenton's reaction|Fenton's reaction]], there is a higher production of the '''hydroxyl radical''', which destroys cells and cellular structures. Typically, iron is deposited first in hepatocytes, then bile ducts, [[Kupffer cells|Kupffer cells]] and [[macrophages|macrophages]], where the main and most serious manifestation of the disease is the development of [[Liver cirrhosis|liver cirrhosis]] with the possible emergence and the development of [[Hepatocellular carcinoma|hepatocellular carcinoma.]] | The essence of hemochromatosis is a '''disruption of the HFE gene''' on the 6th chromosome, which leads to '''excessive storage of iron''' in hepatocytes. Iron is excessively reabsorbed in the duodenum. The disease is autosomal recessive with incomplete penetrance. An excess of iron is of course '''toxic''', because on the basis of [[Fenton's reaction|Fenton's reaction]], there is a higher production of the '''hydroxyl radical''', which destroys cells and cellular structures. Typically, iron is deposited first in hepatocytes, then bile ducts, [[Kupffer cells|Kupffer cells]] and [[macrophages|macrophages]], where the main and most serious manifestation of the disease is the development of [[Liver cirrhosis|liver cirrhosis]] with the possible emergence and the development of [[Hepatocellular carcinoma|hepatocellular carcinoma.]] | ||
| Line 26: | Line 29: | ||
<br/> | <br/> | ||
[[File:Hemochromatosis.webm|thumb|center|upright=1.6|Video in English, definition, pathogenesis, symptoms, complications, treatment.]] | [[File:Hemochromatosis.webm|thumb|center|upright=1.6|Video in English, definition, pathogenesis, symptoms, complications, treatment.]] | ||
{{Video | url = https://www.youtube.com/watch?v=sMR1YZTmIYI}} | |||
== Treatment == | == Treatment == | ||
The best and so far the only treatment is '''[[venipuncture]]''' (injection through a vein), which at least slows down the progression of the disease. Women with this disease are slightly protected by menstrual blood loss, however, they do not have a better prognosis in the long term. | The best and so far the only treatment is '''[[venipuncture]]''' (injection through a vein), which at least slows down the progression of the disease. Women with this disease are slightly protected by menstrual blood loss, however, they do not have a better prognosis in the long term. | ||
== Links == | == Links == | ||
| Line 48: | Line 53: | ||
| type = book | | type = book | ||
| isbn = 9788024621289 | | isbn = 9788024621289 | ||
| | | surname1 = Sobotka | ||
| name1 = Paul | | name1 = Paul | ||
| | | others = yes | ||
| title = Pathological physiology | | title = Pathological physiology | ||
| subtitle = practicum | | subtitle = practicum | ||
| | | edition = 4 | ||
| | | location = Prague | ||
| publisher = Karolinum | | publisher = Karolinum | ||
| year = 2012 | | year = 2012 | ||
| Line 60: | Line 65: | ||
* {{Cite | * {{Cite | ||
| type = article | | type = article | ||
| surname1 = Powell | |||
| name1 = Lawrie W | |||
| surname2 = Seckington | |||
| name2 = Rebecca C | |||
| surname3 = Deugnier | |||
| name3 = Yves | |||
| article = Haemochromatosis | | article = Haemochromatosis | ||
| journal = The Lancet | | journal = The Lancet | ||
| year = 2016 | | year = 2016 | ||
| | | the_year = 10045 | ||
| volume = 388 | | volume = 388 | ||
| pages = 706-716 | | pages = 706-716 | ||
| Line 80: | Line 85: | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pathology]] | [[Category:Pathology]] | ||
[[Category: | [[Category:Articles with video]] | ||
Latest revision as of 22:26, 8 November 2023
Hereditary hemochromatosis (also genetic hemochromatosis, abbreviated HH or GH) is the most common monogenically transmitted disease, which manifests itself after a long period of time diseases (40 years and over). It occurs with an incidence of 2-5/1,000 inhabitants, when the incidence of heterozygotes for this disease is 1:10.
Hemochromatosis:
The essence of hemochromatosis is a disruption of the HFE gene on the 6th chromosome, which leads to excessive storage of iron in hepatocytes. Iron is excessively reabsorbed in the duodenum. The disease is autosomal recessive with incomplete penetrance. An excess of iron is of course toxic, because on the basis of Fenton's reaction, there is a higher production of the hydroxyl radical, which destroys cells and cellular structures. Typically, iron is deposited first in hepatocytes, then bile ducts, Kupffer cells and macrophages, where the main and most serious manifestation of the disease is the development of liver cirrhosis with the possible emergence and the development of hepatocellular carcinoma. Other organs damaged in hemochromatosis are the myocardium, pancreas, joints and testicles. Known by definition is the so-called bronze diabetes, which arises from the destruction of the pancreas, or the islets of Langerhans, and the inability to produce insulin.
Diagnostics[edit | edit source]
- The patient will typically have elevated iron, serum ferritin, and increased transferrin saturation (80-90%).
- Increased values of ALT, AST.
- Prolongation of prothrombin time.
Investigation[edit | edit source]
- USG liver;
- liver biopsy;
- genetic examination.
Clinical features[edit | edit source]
- Hepatomegaly (due to a large amount of stored ferritin);
- manifestations of liver cirrhosis;
- joint pain;
- cardiomegaly;
- insulin resistance (DM);
- hepatocellular carcinoma.
Treatment[edit | edit source]
The best and so far the only treatment is venipuncture (injection through a vein), which at least slows down the progression of the disease. Women with this disease are slightly protected by menstrual blood loss, however, they do not have a better prognosis in the long term.
Links[edit | edit source]
Related Articles[edit | edit source]
External links[edit | edit source]
- Recommended CHS procedure for diagnosis and treatment of genetic (hereditary) hemochromatosis
- Hemochromatosis genetic on medicabaze.cz
- Hemochromatosis - youtube.com video
Source[edit | edit source]
Recommended reading[edit | edit source]
- SOBOTKA, Paul, et al. Pathological physiology : practicum. 4. edition. Prague : Karolinum, 2012. ISBN 9788024621289.
- POWELL, Lawrie W – SECKINGTON, Rebecca C – DEUGNIER, Yves. Haemochromatosis. The Lancet. 2016, y. 10045, vol. 388, p. 706-716, ISSN 0140-6736. DOI: 10.1016/s0140-6736(15)01315-x.
