Hemochromatosis: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(21 intermediate revisions by 7 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Hemochromatosis}}
{{CMG}}; {{AE}}{{SKA}}
{{SK}} Haemochromatosis, Hereditary Hemochromatosis
'''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    = |
}}


{{Hemochromatosis}}
==[[Hemochromatosis overview|Overview]]==
{{CMG}}


{{SK}} Haemochromatosis
==[[Hemochromatosis historical perspective|Historical Perspective]]==
== Diagnosis ==


==[[Hemochromatosis classification|Classification]]==


=== Chemistry ===
==[[Hemochromatosis pathophysiology|Pathophysiology]]==
'''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 causes|Causes]]==


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 differential diagnosis|Differentiating Hemochromatosis from other Diseases]]==


== Treatment ==
==[[Hemochromatosis epidemiology and demographics|Epidemiology and Demographics]]==
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).


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.
==[[Hemochromatosis risk factors|Risk Factors]]==


Other parts of the treatment include:
==[[Hemochromatosis screening|Screening]]==


* Treatment of organ damage ([[heart failure]] with [[diuretic]]s and [[ACE inhibitor]] therapy).
==[[Hemochromatosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
* 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 ==
==Diagnosis==
* [[Cirrhosis]]
[[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]]


== External links ==
==Treatment==
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235200 Hemachromatosis page at the National Center for Biotechnology Information]
[[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]]


==References==
==Case Studies==
[[Hemochromatosis case study one|Case #1]]


{{Reflist|2}}
==Related Chapters==
* [[Cirrhosis]]


==References==
{{reflist|2}}


{{Hematology}}
{{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 Sources}}
[[Category:Disease]]
[[Category:Cardiology]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Genetic Disease]]
[[Category:Hematology]]
[[Category:Hematology]]
[[Category:Mature chapter]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Orthopedics]]
 
[[Category:Endocrinology]]
 
 
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 19:08, 2 August 2018

Hemochromatosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hemochromatosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemochromatosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemochromatosis

CDC on Hemochromatosis

Hemochromatosis in the news

Blogs on Hemochromatosis

Directions to Hospitals Treating Hemochromatosis

Risk calculators and risk factors for Hemochromatosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Synonyms and keywords: Haemochromatosis, Hereditary Hemochromatosis

For patient information click here

Hemochromatosis
ICD-10 E83.1
ICD-9 275.0
OMIM 235200
DiseasesDB 5490
MeSH [3]

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Related Chapters

References

Template:Hematology



Template:WikiDoc Sources