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| __NOTOC__ | | __NOTOC__ |
| | {{Hemochromatosis}} |
| | {{CMG}}; {{AE}}{{SKA}} |
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| | {{SK}} Haemochromatosis, Hereditary Hemochromatosis |
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| '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
| | {{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}}
| | ==[[Hemochromatosis overview|Overview]]== |
| {{CMG}}
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| {{SK}} Haemochromatosis
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| == Diagnosis == | |
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| Haemochromatosis can be difficult to diagnose in the early stages.
| | ==[[Hemochromatosis historical perspective|Historical Perspective]]== |
| === Signs and symptoms === | |
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| Haemochromatosis is notoriously protean, ''i.e.'', it presents with symptoms that are often initially attributed to other diseases. It is also true that most people with hereditary hemochromatosis genetics never actually show signs or suffer symptoms of clinical iron overload(''i.e.,'' is clinically silent).<ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis-Diagnosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref>
| | ==[[Hemochromatosis classification|Classification]]== |
| Symptoms may include:<ref>[http://www.cdc.gov/ncbddd/hemochromatosis/ Iron Overload and Hemochromatosis] Centers for Disease Control and Prevention</ref><ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=2 Hemochromatosis-Signs and Symptoms] Mayo Foundation for Medical Education and Research (MFMER)</ref>
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| * [[Malaise]]
| | ==[[Hemochromatosis pathophysiology|Pathophysiology]]== |
| * [[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]].
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| * [[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]] |
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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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