|
|
| (28 intermediate revisions by 7 users not shown) |
| Line 1: |
Line 1: |
| __NOTOC__ | | __NOTOC__ |
| '''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
| |
|
| |
| {{Hemochromatosis}} | | {{Hemochromatosis}} |
| {{CMG}} | | {{CMG}}; {{AE}}{{SKA}} |
|
| |
|
| {{SK}} Haemochromatosis | | {{SK}} Haemochromatosis, Hereditary Hemochromatosis |
| ==End-organ damage==
| |
| Iron is stored in the liver, the pancreas and the heart. Long term effects of haemochromatosis on these organs can be very serious, even fatal when untreated.<ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=6 Haemochromatosis Complications]</ref>
| |
| '''[[Cirrhosis]]''': Permanent scarring of the [[liver]]. Along with other maladies like long-term alcoholism, haemochromatosis may have an adverse effect on the liver. The liver is a primary storage area for iron and will naturally accumulate excess iron. Over time the liver is likely to be damaged by iron overload. Cirrhosis itself may lead to additional and more serious complications, including bleeding from dilated veins in the [[esophagus]] and [[stomach]] ([[varices]]) and severe fluid retention in the [[abdomen]] ([[ascites]]). Toxins may accumulate in the blood and eventually affect mental functioning. This can lead to confusion or even [[coma]] (hepatic [[encephalopathy]]).
| |
|
| |
|
| '''[[Liver]] [[cancer]]''': Cirrhosis and haemochromatosis together will increase the risk of liver cancer. (Nearly one-third of people with haemochromatosis and cirrhosis eventually develop liver cancer.) | | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
| | | {{Infobox_Disease | |
| '''[[Diabetes]]''': The [[pancreas]] which also stores iron is very important in the body’s mechanisms for sugar [[metabolism]]. Diabetes affects the way the body uses blood sugar ([[glucose]]). Diabetes is in turn the leading cause of new blindness in adults and may be involved in [[kidney failure]] and [[cardiovascular disease]].
| | Name = {{PAGENAME}} | |
| | | Image = | |
| '''[[Congestive heart failure]]''': If excess iron in the heart interferes with the its ability to circulate enough blood, a number of problems can occur including death. The condition may be reversible when haemochromatosis is treated and excess iron stores reduced.
| | Caption = | |
| | | DiseasesDB = 5490 | |
| '''[[Heart]] [[arrhythmias]]''': Arrhythmia or abnormal heart rhythms can cause heart palpitations, [[chest pain]] and light-headedness and are occasionally life threatening. This condition can often be reversed with treatment for haemochromatosis.
| | ICD10 = {{ICD10|E|83|1|e|70}}| |
| | | ICD9 = {{ICD9|275.0}}| |
| '''Pigment changes''': Deposits of iron in skin cells can turn skin a bronze or gray color.
| | ICDO = | |
| | | OMIM = 235200| |
| == Diagnosis == | | MeshName = Hemochromatosis | |
| | | MeshNumber = | |
| Haemochromatosis can be difficult to diagnose in the early stages. Early signs may mimic other diseases. Stiff joints, diabetes, and fatigue, for example, are common in haemochromatosis and other maladies.<ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=5 Screening and Diagnosis]</ref>
| | }} |
| | |
| === Signs and symptoms ===
| |
|
| |
|
| 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 overview|Overview]]== |
| 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>
| |
|
| |
|
| * [[Malaise]]
| | ==[[Hemochromatosis historical perspective|Historical Perspective]]== |
| * [[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]].
| |
| * [[Insulin resistance]] (often patients have already been diagnosed with [[diabetes mellitus]] type 2) due to [[pancreatic]] damage from [[iron]] precipitation
| |
| * [[Erectile dysfunction]] and [[hypogonadism]]
| |
| * Decreased [[libido]]
| |
| * Congestive [[heart failure]], [[arrhythmia]]s or [[pericarditis]]
| |
| * [[Arthritis]] of the hands (especially the [[MCP joint|MCP]] and [[PIP joint]]s), [[knee joint|knee]] and [[shoulder joint|shoulder]] [[joint]]s
| |
| * [[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.
| | ==[[Hemochromatosis classification|Classification]]== |
|
| |
|
| === Imaging features === | | ==[[Hemochromatosis pathophysiology|Pathophysiology]]== |
|
| |
|
| 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 causes|Causes]]== |
| [[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>
| |
| === Chemistry === | |
| '''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.
| |
| '''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>
| |
| Other blood tests routinely performed: [[blood count]], [[renal function]], [[liver enzyme]]s, [[electrolyte]]s, [[glucose]] (and/or an [[oral glucose tolerance test]] (OGTT)).
| |
|
| |
|
| ===Functional testing=== | | ==[[Hemochromatosis differential diagnosis|Differentiating Hemochromatosis from other Diseases]]== |
|
| |
|
| 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 epidemiology and demographics|Epidemiology and Demographics]]== |
|
| |
|
| === Screening === | | ==[[Hemochromatosis risk factors|Risk Factors]]== |
|
| |
|
| [[Screening]] specifically means looking for a [[disease]] in people who have no [[symptoms]]. [[Diagnosis]], on the other hand refers to testing people who have [[symptoms]] of a [[disease]]. Standard diagnostic measures for haemochromatosis, [[serum]] [[transferrin saturation]] and [[serum]] [[ferritin]] tests, are not a part of routine medical testing. [[Screening]] for hemochromatosis is recommended if the patient has a parent, child or sibling with the disease, or have any of the following signs and symptoms:<ref>[http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=5 Screening and Diagnosis] Mayo Foundation for Medical Education and Research (MFMER). Retrieved 18 March, 2007</ref><ref>[http://www.annals.org/cgi/content/full/143/7/I-46 Screening for Hereditary Hemochromatosis: Recommendations from the American College of Physicians Annals of Internal Medicine (2005) 4 October, Volume 143 Issue 7. (Page I-46). American College of Physicians. Retrieved 18 March, 2007</ref> | | ==[[Hemochromatosis screening|Screening]]== |
| *Joint disease
| |
| *Severe fatigue
| |
| *Heart disease
| |
| *Elevated liver enzymes
| |
| *Impotence
| |
| *Diabetes
| |
| Routine [[screening]] of the general population for hereditary hemochromatosis, that is, by genetic testing, has been evaluated by the US Preventive Services Task Force (USPSTF), among other groups. The USPSTF recommended against doing genetic testing to screen the general population for hereditary hemochromatosis because the likelihood of diagnosing clinically relevant, iron accumulating hereditary hemochromatosis in a treatable patient population approaches less than 1 in 1000 unselected patients. Also, there is no evidence that doing [[phlebotomy]] to treat asymptomatic, non-iron overloaded carriers of [[HFE]] mutations has any clinical benefit. Also, genetic carriers of the disease may never manifest the symptoms of the disease, so that the potential harm of the attendant surveillance, privacy issues, unnecessary invasive work-up, and anxiety outweigh the potential benefits. <ref name="pmid16880462">{{cite journal |author= |title=Screening for hemochromatosis: recommendation statement |journal=Ann. Intern. Med. |volume=145 |issue=3 |pages=204-8 |year=2006 |pmid=16880462 |doi=}}</ref> <ref>[http://www.ahrq.gov/clinic/uspstf/uspshemoch.htm Screening for Hemochromatosis] U.S. Preventive Services Task Force (2006). Summary of Screening Recommendations and Supporting Documents. Retrieved 18 March, 2007</ref>
| |
|
| |
|
| == Differential Diagnosis == | | ==[[Hemochromatosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
|
| |
|
| There exist other causes of excess iron accumulation, which have to be considered before Haemochromatosis is diagnosed.
| | ==Diagnosis== |
| * '''[[African iron overload]]''', formerly known as Bantu siderosis, was first observed among people of African descent in Southern Africa. Originally, this was blamed on ungalvanised barrels used to store home-made beer, which led to increased oxidation and increased iron levels in the beer. Further investigation has shown that only some people drinking this sort of beer get an iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer (''e.g.,'' African Americans). This led investigators to the discovery of a gene [[polymorphism (biology)|polymorphism]] in the gene for [[ferroportin]] which predisposes some people of African descent to iron overload.<ref name=Gordeuk_2003>{{cite journal |author=Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A |title=Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene |journal=Blood Cells Mol Dis |volume=31 |issue=3 |pages=299-304 |year=2003 |pmid=14636642}}</ref>
| | [[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]] |
| * '''[[Transfusion hemosiderosis]]''' is the accumulation of iron, mainly in the [[liver]], in patients who receive frequent [[blood transfusion]]s (such as those with [[thalassemia]]).
| |
| * '''Dyserythropoeisis''', also known as [[myelodysplastic syndrome]] is a disorder in the production of red blood cells. This leads to increased iron recycling from the [[bone marrow]] and accumulation in the liver.
| |
|
| |
|
| == Treatment == | | ==Treatment== |
| 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).
| | [[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]] |
|
| |
|
| 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.
| | ==Case Studies== |
| | [[Hemochromatosis case study one|Case #1]] |
|
| |
|
| Other parts of the treatment include:
| | ==Related Chapters== |
| | |
| * Treatment of organ damage ([[heart failure]] with [[diuretic]]s and [[ACE inhibitor]] therapy).
| |
| * 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).
| |
| * 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.)
| |
| | |
| == See also == | |
| * [[Cirrhosis]] | | * [[Cirrhosis]] |
|
| |
|
| == External links == | | ==References== |
| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235200 Hemachromatosis page at the National Center for Biotechnology Information]
| | {{reflist|2}} |
|
| |
|
| ==References==
| | {{Hematology}} |
|
| |
|
| {{Reflist|2}}
| | [[Category:Gastroenterology]] |
| | [[Category:Hematology]] |
| | [[Category:Hepatology]] |
|
| |
|
|
| |
|
| {{Hematology}}
| |
|
| |
|
| [[de:Hämochromatose]]
| |
| [[es:Hemocromatosis]]
| |
| [[fr:Hémochromatose génétique]]
| |
| [[it:Emocromatosi]]
| |
| [[he:המוכרומטוזיס]]
| |
| [[nl:Hemochromatose]]
| |
| [[no:Hemokromatose]]
| |
| [[pl:Hemochromatoza]]
| |
| [[pt:Hemocromatose]]
| |
| [[fi:Hemokromatoosi]]
| |
| [[sv:Hemakromotos]]
| |
| {{WikiDoc Help Menu}} | | {{WikiDoc Help Menu}} |
| {{WikiDoc Sources}} | | {{WikiDoc Sources}} |
|
| |
| [[Category:Disease]]
| |
| [[Category:Cardiology]]
| |
| [[Category:Gastroenterology]]
| |
| [[Category:Genetic Disease]]
| |
| [[Category:Hematology]]
| |
| [[Category:Mature chapter]]
| |
| [[Category:Hepatology]]
| |
| [[Category:Orthopedics]]
| |
| [[Category:Endocrinology]]
| |