Pernicious anemia

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Pernicious anemia Classification and external resources
ICD-10	D51.0
ICD-9	281.0
DiseasesDB	9870
MedlinePlus	000569
eMedicine	med/1799
MeSH	D000752

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Pernicious anemia (also known as Biermer's anaemia or Addison's anaemia or Addison-Biermer anaemia) is a form of megaloblastic anaemia due to vitamin B₁₂ deficiency dependent on impaired absorption of vitamin B₁₂ in the setting of atrophic gastritis, and more specifically of loss of gastric parietal cells. While the term "pernicious anaemia" is sometimes also incorrectly used to indicate megaloblastic anaemia due to any cause of vitamin B₁₂ deficiency, its proper usage refers to that caused by atrophic gastritis and parietal cell loss only.

Mechanisms & manifestations

Pathophysiology

Vitamin B₁₂ cannot be produced by the human body, and must therefore be obtained from diet. Normally, dietary vitamin B₁₂ can only be absorbed by the ileum when it is bound by the intrinsic factor produced by parietal cells of the gastric mucosa. In pernicious anaemia, this process is impaired because of loss of parietal cells, resulting in insufficient absorption of the vitamin, which over a prolonged period of time ultimately leads to vitamin B₁₂ deficiency and thus megaloblastic anaemia.

Presentation

The presentation of pernicious anaemia resembles that of any other form of anaemia, but is often accompanied by the manifestations of vitamin B₁₂ deficiency (notably neurological abnormalities such as peripheral neuropathy), as well as by other manifestations of autoimmune atrophic gastritis.

Causes

Most commonly, the cause for impaired binding of vitamin B₁₂ by intrinsic factor is autoimmune atrophic gastritis, in which autoantibodies are directed against parietal cells (resulting in their loss) as well as against the intrinsic factor itself (rendering it unable to bind vitamin B₁₂). Less frequently, loss of parietal cells may simply be part of a widespread atrophic gastritis of non-autoimmune origin, such as that frequently occurring in elderly people affected with long-standing chronic gastritis of any cause (including Helicobacter pylori infection). Note that forms of vitamin B₁₂ deficiency other than pernicious anaemia must be considered in the differential diagnosis of megaloblastic anaemia.

Diagnosis

A diagnosis of pernicious anaemia first requires demonstration of megaloblastic anaemia (through a full blood count) and of its direct cause, vitamin B₁₂ deficiency (by measuring B₁₂ levels in serum). A Schillings test can then be used to distinguish pernicious anemia from other causes of vitamin B₁₂ deficiency (notably malabsorption. A diagnosis of atrophic gastritis should be confirmed by gastroscopy with biopsies. Approximately 90% of individuals with pernicious anemia have antibodies for parietal cells, however only 50% of individuals with these antibodies have pernicious anaemia.

Pathology

Treatment

Being a manifestation of vitamin B₁₂ deficiency, pernicious anaemia is treated by administering vitamin B₁₂ supplements. Note that if oral tablets are chosen for this purposes, much higher doses are given than normally required in order to overcome the impaired absorption that characterises pernicious anaemia. If oral tablets are not sufficient, vitamin B₁₂ can also be administered via injection. Often the patient can learn to do this at home.

History

The treatment for pernicious anemia was first devised by George Whipple who bled dogs to make them anemic and then fed them various substances to see what (if anything) would make them healthy again. He discovered that ingesting large amounts of liver seemed to cure the disease. George Minot and William Murphy then set about to chemically isolate the curative substance and ultimately were able to isolate the vitamin B₁₂ from the liver. For this, all three shared the 1934 Nobel Prize in Medicine. As a result, pernicious anemia is now treated with either vitamin B₁₂ injections, or large oral doses of vitamin B₁₂, typically between 2 and 4 mg daily.

Famous sufferers

• Inez Milholland, American Suffragette.
• Alexander Graham Bell, Scottish scientist and inventor.
• Annie Oakley.
• Norman Warne, Editor/Publisher & fiance of Beatrix Potter.
• Yoon Eun Hye, A South Korean actress

External links

• The Pernicious Anaemia Society, a UK-based charitable organisation which operates a forum where you can discuss Pernicious Anaemia with other sufferers around the world.
• Parietal cell antibody
• Antibody to GPC

v • d • e Pathology: hematology, myeloid hematologic disease (primarily D50-D77, 280-289)
RBCs/ hemoglobinopathy	+ Polycythemia - Macrocytosis - Anemia Nutritional Iron deficiency anemia (Plummer-Vinson syndrome), Megaloblastic anemia (Pernicious anemia) Hemolytic Hereditary enzyme: G6PD Deficiency - Pyruvate kinase deficiency - Triosephosphate isomerase deficiency hemoglobin: Thalassemia - Sickle-cell disease/trait membrane: Hereditary spherocytosis - Hereditary elliptocytosis - Hereditary stomatocytosis Acquired Autoimmune (Warm, Cold), HUS, MAHA, PNH, PCH, Myelophthisic Aplastic Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia, Sideroblastic anemia Blood tests Normocytic - Microcytic - Macrocytic - Normochromic - Hypochromic Other Methemoglobinemia
Coagulation/platelets/ coagulopathy/ bleeding diathesis	+ Hypercoagulability primary: Antithrombin III deficiency - Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden - Hyperprothrombinemia acquired: DIC (Congenital afibrinogenemia, Purpura fulminans) - autoimmune (Antiphospholipid) Other Essential thrombocytosis - clotting factor: Hemophilia (A/VIII, B/IX, C/XI) • Von Willebrand disease • Hypoprothrombinemia/II - XIII platelet function: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Gray platelet syndrome - May Hegglin anomaly - Pelger-Huet anomaly Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP Thrombocytopenia (Heparin-induced thrombocytopenia)
Monocytes/ macrophages	+ Histiocytosis WHO-I (Langerhans cell histiocytosis) WHO-II/non-Langerhans-cell (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) WHO-III/malignant (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease) Other Chronic granulomatous disease -cytosis: Monocytosis - -penia: Monocytopenia
Granulocytes	+ -cytosis: granulocytosis (Neutrophilia, Eosinophilia, Basophilia) - -penia: Granulocytopenia/agranulocytosis (Neutropenia/Kostmann syndrome, Eosinopenia, Basopenia)
See also hematological malignancy and immune disorders

v • d • e WikiDoc Research Resources for Pernicious anemia
Articles on Pernicious anemia	Most recent articles on Pernicious anemia • Most cited articles on Pernicious anemia • Review articles on Pernicious anemia • Articles on Pernicious anemia in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Pernicious anemia	Powerpoint slides on Pernicious anemia • Images of Pernicious anemia • Photos of Pernicious anemia • Podcasts & MP3s on Pernicious anemia • Videos on Pernicious anemia
Evidence Based Medicine Regarding Pernicious anemia	Cochrane Collaboration on Pernicious anemia • Bandolier on Pernicious anemia • TRIP on Pernicious anemia
Cost Effectiveness of Pernicious anemia	Cost Effectiveness of Pernicious anemia
Clinical Trials Involving Pernicious anemia	Ongoing Trials on Pernicious anemia at Clinical Trials.gov • Trial results on Pernicious anemia • Clinical Trials on Pernicious anemia at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Pernicious anemia	US National Guidelines Clearinghouse on Pernicious anemia • NICE Guidance on Pernicious anemia • NHS PRODIGY Guidance • FDA on Pernicious anemia • CDC on Pernicious anemia
Textbook Information on Pernicious anemia	Books and Textbook Information on Pernicious anemia
Pharmacology Resources on Pernicious anemia	Dosing of Pernicious anemia • Drug interactions with Pernicious anemia • Side effects of Pernicious anemia • Allergic reactions to Pernicious anemia • Overdose information on Pernicious anemia • Carcinogenicity information on Pernicious anemia • Pernicious anemia in pregnancy • Pharmacokinetics of Pernicious anemia •
Genetics, Pharmacogenomics, and Proteinomics of Pernicious anemia	Genetics of Pernicious anemia • Pharmacogenomics of Pernicious anemia • Proteomics of Pernicious anemia
Newstories on Pernicious anemia	Pernicious anemia in the news • Be alerted to news on Pernicious anemia • News trends on Pernicious anemia
Commentary on Pernicious anemia	Blogs on Pernicious anemia
Patient Resources on Pernicious anemia	Patient resources on Pernicious anemia • Discussion groups on Pernicious anemia • Patient Handouts on Pernicious anemia • Directions to Hospitals Treating Pernicious anemia • Risk calculators and risk factors for Pernicious anemia
Healthcare Provider Resources on Pernicious anemia	Symptoms of Pernicious anemia • Causes & Risk Factors for Pernicious anemia • Diagnostic studies for Pernicious anemia • Treatment of Pernicious anemia
Continuing Medical Education (CME) Programs on Pernicious anemia	CME Programs on Pernicious anemia
International Resources on Pernicious anemia	Pernicious anemia en Espanol • Pernicious anemia en Francais
Business Resources on Pernicious anemia	Pernicious anemia in the Marketplace • Patents on Pernicious anemia
Informatics Resources on Pernicious anemia	List of terms related to Pernicious anemia

de:Perniziöse Anämieit:Anemia perniciosa

nl:Pernicieuze anemiefi:Pernisiöösi anemia

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .