Hemochromatosis physical examination: Difference between revisions
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==Overview== | ==Overview== | ||
==Physical Examination== | ==Physical Examination== | ||
* [[Erectile dysfunction]] and [[hypogonadism]] | |||
* Congestive [[heart failure]], [[arrhythmia]]s or [[pericarditis]] | |||
* [[Deafness]]<ref name=Jones_1983>{{cite journal |author=Jones H, Hedley-Whyte E |title=Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs |journal=Neurology |volume=33 |issue=11 |pages=1479-83 |year=1983 |pmid=6685241}}</ref> | |||
*[[Dyskinesia]]s, including [[Parkinsonian]] symptoms<ref name=Costello_2004>{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name=Jones_1983 /><ref name=Nielsen_1995>{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref> | |||
* Dysfunction of certain [[endocrine organs]]: | |||
** [[Pancreas|Pancreatic gland]], as above, manifesting as [[diabetes]] | |||
** [[Adrenal gland]] (leading to [[adrenal insufficiency]]) | |||
** [[Parathyroid gland]] (leading to [[hypocalcaemia]]) | |||
** [[Pituitary gland]] | |||
** [[Testes]] or [[ovary]] (leading to [[hypogonadism]]) | |||
* A darkish color to the skin (see pigmentation, hence its name '''''Diabete bronze''''' when it was first described by [[Armand Trousseau]] in 1865) | |||
* An increased susceptibility to certain [[infectious disease]]s caused by siderophilic microoganisms: | |||
** ''[[Vibrio vulnificus]]'' infections from eating seafood | |||
** ''[[Listeria monocytogenes]]'' | |||
** ''[[Yersinia enterocolica]]'' | |||
** ''[[Salmonella enteritidis]]'' (serotype Typhymurium) | |||
** ''[[Klebsiella pneumoniae]]'' | |||
** ''[[E. coli|Escherichia coli]]'' | |||
** ''[[Rhizopus arrhizus]]'' | |||
** ''Mucor'' species | |||
Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by [[menstruation]] (which ceases in [[menopause]]). Cases of [[iron]] overload have been found in young children as well. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 13:48, 29 August 2012
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Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Physical Examination
- Erectile dysfunction and hypogonadism
- Congestive heart failure, arrhythmias or pericarditis
- Deafness[1]
- Dyskinesias, including Parkinsonian symptoms[2][1][3]
- Dysfunction of certain endocrine organs:
- Pancreatic gland, as above, manifesting as diabetes
- Adrenal gland (leading to adrenal insufficiency)
- Parathyroid gland (leading to hypocalcaemia)
- Pituitary gland
- Testes or ovary (leading to hypogonadism)
- A darkish color to the skin (see pigmentation, hence its name Diabete bronze when it was first described by Armand Trousseau in 1865)
- An increased susceptibility to certain infectious diseases caused by siderophilic microoganisms:
- Vibrio vulnificus infections from eating seafood
- Listeria monocytogenes
- Yersinia enterocolica
- Salmonella enteritidis (serotype Typhymurium)
- Klebsiella pneumoniae
- Escherichia coli
- Rhizopus arrhizus
- Mucor species
Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by menstruation (which ceases in menopause). Cases of iron overload have been found in young children as well.
References
- ↑ 1.0 1.1 Jones H, Hedley-Whyte E (1983). "Idiopathic hemochromatosis (IHC): dementia and ataxia as presenting signs". Neurology. 33 (11): 1479–83. PMID 6685241.
- ↑ Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
- ↑ Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.