Disease or Syndrome
pernicious anemia
per·ni·cious a·ne·mi·a [ per-nih-shus uh-nee-mee-uh ]
Subclass of:
Vitamin B 12 Deficiency; Anemia, Megaloblastic
Definitions related to anemia, pernicious:
(pernicious anemia) A form of anemia in which red blood cells enlarge and decrease in size due to an inability to properly absorb vitamin B12.
Harvard Dictionary of Health Terms
Harvard Medical Publishing, 2011
(pernicious anemia) A type of anemia (low red blood cell count) caused by the body's inability to absorb vitamin B12.
NCI Dictionary of Cancer Terms
U.S. National Cancer Institute, 2021
(pernicious anemia) Anemia due to poor intestinal absorption of vitamin B12 caused by defective production of intrinsic factor (a carrier protein) by the gastric mucosa.
CRISP Thesaurus
National Institutes of Health, 2006
(pernicious anemia) Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.
NCI Thesaurus
U.S. National Cancer Institute, 2021
(pernicious anemia) Megaloblastic anemia caused by vitamin B12 deficiency due to insufficient production of intrinsic factor by gastric parietal cells, which is essential for adequate absorption of vitamin B12. It is classically characterized by weakness and fatigue, glossitis, and paresthesias.
NICHD Pediatric Terminology
U.S. National Cancer Institute, 2021
A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
NLM Medical Subject Headings
U.S. National Library of Medicine, 2021
Pernicious anemia is a chronic illness caused by impaired absorption of vitamin B-12 because of a lack of intrinsic factor (IF) in gastric secretions. It occurs as a relatively common adult form of anemia that is associated with gastric atrophy and a loss of IF production and as a rare congenital autosomal recessive form in which IF...
WebMD, 2019
Biermer's disease, also called acquired pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal...
National Center for Advancing Translational Sciences
Pernicious anemia, disease in which the production of red blood cells (erythrocytes) is impaired as a result of the body's inability to absorb vitamin B12, which is obtained in the diet and is necessary for red blood cells to mature properly in the bone marrow. Pernicious anemia is one of many...
Encyclopedia Britannica, Inc., 2020
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.
Pernicious anemia
Pernicious anemiaClassification & external resources
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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.
Additional recommended knowledge
Contents
- 1 Mechanisms & manifestations
- 1.1 Pathophysiology
- 1.2 Presentation
- 2 Causes
- 3 Diagnosis
- 4 Treatment
- 4.1 History
- 5 Famous sufferers
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
Main article: vitamin B12
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 all individuals in the general population with these antibodies have pernicious anaemia.
Treatment
Main article: Vitamin B12
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 desired, vitamin B12 can also be administered via injection, which is usually given once a month. Often the patient can learn to do this at home with the same syringes and needles used for insulin treatment of diabetes.
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 would make them healthy again, more rapidly. 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 liver (ironically, however, it was the iron, not the B-12 in liver which cured the anemia produced by bleeding in dogs). For the discovery of the cure of a previously fatal disease of unknown etiology the three men shared the 1934 Nobel Prize in Medicine. For a time, pernicious anemia was treated by drinking raw liver juice. Eventually as the vitamin was purified and other methods of producing it were developed, pernicious anemia was treated with either vitamin B12 injections, or else large oral doses of vitamin B12, typically between 1 and 4 mg (1000 to 4000 mcg) daily.
Pernicious anemia was once a fatal disease before the year 1926, when doctors gathered together and ran tests on patients. They concluded that continuous B12 injections help the patient's recovery. Previously, Pernicious Anemia victims ate or drank at least 1/2 a pound of raw liver every day for a treatment. Dr. Addison first discovered this disease as a problem and perscribed this, and this is where doctors aqcuire the name Addison's Anemia. Dr. Newcastle found that he could regurgitate his gastric juices and feed it to his patients. This took the place of daily liver, and these people improved. But he could not keep a steady supply, so they continued to eat liver.
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
- Betsie ten Boom, Sister to Corrie ten Boom, victim of the Holocaust, and in the book, The Hiding Place
| hematological malignancy
(lymphoma, leukemia, multiple myeloma),
myeloproliferative disease, myelodysplastic syndrome -cytosis (Agranulocytosis, Leukocytosis, Lymphocytosis, Monocytosis) • -penia (Lymphopenia, Neutropenia) |
| nutritional anemia:
Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious
anemia) hereditary hemolytic anemia: G6PD Deficiency, Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis acquired hemolytic anemia: Autoimmune (Warm), HUS, MAHA, PNH, PCH aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia • Hemochromatosis |
| coagulopathy: DIC • Hemophilia
(A/VII, B/IX, C/XI, XIII) • Von Willebrand disease Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP primary hypercoagulable state: Protein C deficiency - Protein S deficiency - Antithrombin III deficiency - Antiphospholipid syndrome - Factor V Leiden other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome |
| WHO-I Langerhans cell histiocytosis - non-Langerhans-cell histiocytosis/WHO-II (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) - malignant histiocytic disorders/WHO-III (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease) |
| Asplenia/hyposplenism - Methemoglobinemia |