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| '''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
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| {{Hemochromatosis}} | | {{Hemochromatosis}} |
| {{CMG}} | | {{CMG}}; {{AE}}{{SKA}} |
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| {{SK}} Haemochromatosis | | {{SK}} Haemochromatosis, Hereditary Hemochromatosis |
| == Diagnosis ==
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| Haemochromatosis can be difficult to diagnose in the early stages.
| | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
| === Signs and symptoms === | | {{Infobox_Disease | |
| | Name = {{PAGENAME}} | |
| | Image = | |
| | Caption = | |
| | DiseasesDB = 5490 | |
| | ICD10 = {{ICD10|E|83|1|e|70}}| |
| | ICD9 = {{ICD9|275.0}}| |
| | ICDO = | |
| | OMIM = 235200| |
| | MeshName = Hemochromatosis | |
| | MeshNumber = | |
| | }} |
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| | ==[[Hemochromatosis overview|Overview]]== |
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| Symptoms may include:
| | ==[[Hemochromatosis historical perspective|Historical Perspective]]== |
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| | ==[[Hemochromatosis classification|Classification]]== |
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| * [[Liver cirrhosis]] (with an increased risk of [[hepatocellular carcinoma]], affecting up to a third of all [[homozygote]]s) - this is often preceded by a period of a painfully [[hepatomegaly|enlarged liver]].
| | ==[[Hemochromatosis pathophysiology|Pathophysiology]]== |
| * [[Insulin resistance]] (often patients have already been diagnosed with [[diabetes mellitus]] type 2) due to [[pancreatic]] damage from [[iron]] precipitation
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| * [[Erectile dysfunction]] and [[hypogonadism]]
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| * Decreased [[libido]]
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| * Congestive [[heart failure]], [[arrhythmia]]s or [[pericarditis]]
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| * [[Arthritis]] of the hands (especially the [[MCP joint|MCP]] and [[PIP joint]]s), [[knee joint|knee]] and [[shoulder joint|shoulder]] [[joint]]s
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| * [[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>
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| *[[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>
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| * Dysfunction of certain [[endocrine organs]]:
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| ** [[Pancreas|Pancreatic gland]], as above, manifesting as [[diabetes]]
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| ** [[Adrenal gland]] (leading to [[adrenal insufficiency]])
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| ** [[Parathyroid gland]] (leading to [[hypocalcaemia]])
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| ** [[Pituitary gland]]
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| ** [[Testes]] or [[ovary]] (leading to [[hypogonadism]])
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| * A darkish color to the skin (see pigmentation, hence its name '''''Diabete bronze''''' when it was first described by [[Armand Trousseau]] in 1865)
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| * An increased susceptibility to certain [[infectious disease]]s caused by siderophilic microoganisms:
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| ** ''[[Vibrio vulnificus]]'' infections from eating seafood
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| ** ''[[Listeria monocytogenes]]''
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| ** ''[[Yersinia enterocolica]]''
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| ** ''[[Salmonella enteritidis]]'' (serotype Typhymurium)
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| ** ''[[Klebsiella pneumoniae]]''
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| ** ''[[E. coli|Escherichia coli]]''
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| ** ''[[Rhizopus arrhizus]]''
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| ** ''Mucor'' species
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| 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.
| | ==[[Hemochromatosis causes|Causes]]== |
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| === Imaging features === | | ==[[Hemochromatosis differential diagnosis|Differentiating Hemochromatosis from other Diseases]]== |
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| Clinically the disease may be silent, but characteristic radiological features may point to the diagnosis. The increased [[iron]] stores in the organs involved, especially in the liver and pancreas, result in characteristic findings on unenhanced [[Computed axial tomography|CT]] and a decreased signal intensity at [[Magnetic resonance imaging|MR imaging]]. Haemochromatosis [[arthropathy]] includes degenerative [[osteoarthritis]] and [[Pseudogout|chondrocalcinosis]]. The distribution of the [[arthropathy]] is distinctive, but not unique, frequently affecting the second and third metacarpophalangeal joints of the hand. The [[arthropathy]] can therefore be an early clue as to the diagnosis of hemochromatosis.
| | ==[[Hemochromatosis epidemiology and demographics|Epidemiology and Demographics]]== |
| [[MRI]] algorithms are available at research institutions to quantify the amount of iron present in the [[liver]], therefore reducing the necessity of a [[liver biopsy]] (see below) to measure the [[liver]] [[iron]] content. As of May, 2007, this technology was only available at a few sites in the USA, but documented reports of [[radiographic]] measurements of [[liver]] iron content were becoming more common. <ref name="pmid17018390">{{cite journal |author=Tanner MA, He T, Westwood MA, Firmin DN, Pennell DJ |title=Multi-center validation of the transferability of the magnetic resonance T2* technique for the quantification of tissue iron |journal=Haematologica |volume=91 |issue=10 |pages=1388-91 |year=2006 |pmid=17018390 |doi=}}</ref>
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| === Chemistry ===
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| '''Serum transferrin saturation'''- A first step is the measurement of [[transferrin]] saturation, the protein which chemically binds to iron and carries it through the blood to the [[liver]], [[spleen]] and [[bone marrow]].<ref>[http://sickle.bwh.harvard.edu/iron_transport.html Transferrin and Iron Transport Physiology]</ref> Measuring transferrin provides a measurement of iron in the blood. Saturation values of 45% are probably a good cutoff to determine whether a patient is a candidate for further testing. <ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=5 Screening and Diagnosis]</ref> The [[transferrin saturation]] is usually expressed as a percentage, and is calculated as the [[total serum iron]] level divided by the serum iron transferrin level times 100.
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| '''Serum Ferritin'''- [[Ferritin]], the protein which chemically binds to iron and stores it in the body. Measuring ferritin provides a measurement of iron in the whole body. Normal values for males are 12-300 ng/ml (nanograms per milliliter) and for female, 12-150 ng/ml. Low values indicate [[iron deficiency]], which may be attributed to a number of causes. Higher than normal also may indicate other causes including haemochromatosis.<ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=5 Screening and Diagnosis]</ref><ref>[http://www.nlm.nih.gov/medlineplus/ency/article/003490.htm Ferritin Test] Measuring iron in the body</ref>
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| Other blood tests routinely performed: [[blood count]], [[renal function]], [[liver enzyme]]s, [[electrolyte]]s, [[glucose]] (and/or an [[oral glucose tolerance test]] (OGTT)).
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| ===Functional testing=== | | ==[[Hemochromatosis risk factors|Risk Factors]]== |
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| Based on the history, the [[physician|doctor]] might consider specific tests to monitor organ dysfunction, such as an [[echocardiogram]] for [[heart failure]], or blood glucose monitoring for patients with hemochromatosis [[diabetes]].
| | ==[[Hemochromatosis screening|Screening]]== |
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| == Treatment == | | ==[[Hemochromatosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| Early diagnosis is important because the late effects of iron accumulation can be wholly prevented by periodic [[Venipuncture|phlebotomies]] (by venesection) comparable in volume to [[blood donation]]s.<ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=7 Hemochromatosis - Treatment]</ref> Treatment is initiated when [[ferritin]] levels reach 300 micrograms per litre (or 200 in nonpregnant [[premenopausal]] women).
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| Every bag of blood ml) contains 200-250 milligrams of iron. Phlebotomy (or [[bloodletting]]) is usually done at a weekly interval until [[ferritin]] levels are less than 20 nanograms per millilitre. After that, 1-4 donations per year are usually needed to maintain iron balance.
| | ==Diagnosis== |
| | [[Hemochromatosis diagnostic study of choice|Diagnostic Study of Choice]] | [[Hemochromatosis history and symptoms|History and Symptoms]] | [[Hemochromatosis physical examination|Physical Examination]] | [[Hemochromatosis laboratory findings|Laboratory Findings]] | [[Hemochromatosis electrocardiogram|Electrocardiogram]] | [[Hemochromatosis x ray|X Ray]] | [[Hemochromatosis CT|CT]] | [[Hemochromatosis MRI|MRI]] | [[Hemochromatosis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Hemochromatosis other imaging findings|Other Imaging Findings]] | [[Hemochromatosis other diagnostic studies|Other Diagnostic Studies]] |
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| Other parts of the treatment include:
| | ==Treatment== |
| | [[Hemochromatosis medical therapy|Medical Therapy]] | [[Hemochromatosis surgery|Surgery]] | [[Hemochromatosis primary prevention|Primary Prevention]] | [[Hemochromatosis secondary prevention|Secondary Prevention]] | [[Hemochromatosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Hemochromatosis future or investigational therapies|Future or Investigational Therapies]] |
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| * Treatment of organ damage ([[heart failure]] with [[diuretic]]s and [[ACE inhibitor]] therapy).
| | ==Case Studies== |
| * Limiting intake of alcoholic beverages, [[vitamin C]] (increases iron absorption in the gut), red meat (high in [[iron]]) and potential causes of food poisoning (shellfish, seafood).
| | [[Hemochromatosis case study one|Case #1]] |
| * Increasing intake of substances that inhibit iron absorption, such as high-[[tannin]] [[tea]], [[calcium]], and foods containing [[Oxalic acid|oxalic]] and [[phytic acid]]s (these must be consumed at the same time as the iron-containing foods in order to be effective.)
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| == See also == | | ==Related Chapters== |
| * [[Cirrhosis]] | | * [[Cirrhosis]] |
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| == External links == | | ==References== |
| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235200 Hemachromatosis page at the National Center for Biotechnology Information]
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| ==References==
| | {{Hematology}} |
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| {{Reflist|2}}
| | [[Category:Gastroenterology]] |
| | [[Category:Hematology]] |
| | [[Category:Hepatology]] |
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| {{Hematology}}
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| [[de:Hämochromatose]]
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| [[es:Hemocromatosis]]
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| [[fr:Hémochromatose génétique]]
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| [[it:Emocromatosi]]
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| [[he:המוכרומטוזיס]]
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| [[nl:Hemochromatose]]
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| [[no:Hemokromatose]]
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| [[pl:Hemochromatoza]]
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| [[pt:Hemocromatose]]
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| [[fi:Hemokromatoosi]]
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| [[sv:Hemakromotos]]
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