pernicious anemia

ICD-10 Codes

Related ICD-10:

Description

Pernicious Anemia: A Condition Affecting Vitamin B12 Absorption

Pernicious anemia is a condition that occurs when the body is unable to properly absorb vitamin B12, leading to a decrease in red blood cells. This deficiency can cause a range of symptoms and complications.

  • Autoimmune Destruction: Pernicious anemia is often caused by autoimmune destruction of parietal cells in the stomach, which are responsible for secreting intrinsic factor (IF), a substance necessary for vitamin B12 absorption [1].
  • Vitamin B12 Deficiency: The condition results from a lack of vitamin B12, which is essential for the production of healthy red blood cells. Without sufficient vitamin B12, the body cannot produce enough red blood cells, leading to anemia [2][3].
  • Symptoms: Common symptoms of pernicious anemia include weakness, fatigue, stomach upset, rapid heartbeat (tachycardia), and chest pains. These symptoms can be recurring and may worsen over time if left untreated [4].

Key Facts

  • Pernicious anemia is a chronic progressive condition that affects older adults.
  • The condition is thought to result from a lack of intrinsic factor, which is necessary for vitamin B12 absorption.
  • Vitamin B12 deficiency leads to a decrease in red blood cells, causing anemia.

References:

[1] Apr 23, 2024 — Pernicious anemia occurs as a result of autoimmune destruction of parietal cells, which secrete IF, or the development of auto-antibodies ...

[2] A condition in which the body is unable to properly absorb vitamin B12, leading to a lower-than-normal number of red blood cells in the body.

[3] Sep 25, 2024 — Pernicious anemia (PA) is an autoimmune condition where your body can't absorb vitamin B12 and so can't make enough healthy red blood cells.

[4] The symptoms of pernicious anemia may include weakness, fatigue, an upset stomach, an abnormally rapid heartbeat (tachycardia), and/or chest pains. Recurring ...

Additional Characteristics

  • Pernicious anemia is a condition that occurs when the body is unable to properly absorb vitamin B12, leading to a decrease in red blood cells.
  • The condition results from a lack of vitamin B12, which is essential for the production of healthy red blood cells.
  • Common symptoms of pernicious anemia include weakness, fatigue, stomach upset, rapid heartbeat (tachycardia), and chest pains.
  • Pernicious anemia is a chronic progressive condition that affects older adults.
  • Vitamin B12 deficiency leads to a decrease in red blood cells, causing anemia.

Signs and Symptoms

Common Signs and Symptoms of Pernicious Anemia

Pernicious anemia, a type of vitamin B12 deficiency, can manifest in various ways. The symptoms can be mild or severe, depending on the individual case.

  • Fatigue: Feeling tired, weak, or lacking energy is one of the most common symptoms of pernicious anemia [1][2][5][6].
  • Shortness of breath: People with pernicious anemia may experience shortness of breath due to a lack of red blood cells [3][4][8].
  • Dizziness and lightheadedness: Standing up or exerting oneself can cause dizziness, lightheadedness, or fainting in individuals with pernicious anemia [1][5][6].
  • Loss of appetite: A decrease in appetite is another symptom that may be experienced by people with pernicious anemia [9].
  • Pale skin: Pale or yellowish skin can also be a sign of pernicious anemia, due to the lack of red blood cells [8].

In more severe cases, pernicious anemia can lead to additional symptoms such as:

  • Nausea and vomiting
  • Diarrhea or constipation
  • Abnormal heartbeat (tachycardia)
  • Chest pains

It's essential to seek medical attention if you're experiencing any of these symptoms, as pernicious anemia can be treated with vitamin B12 supplements.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Additional Symptoms

  • Nausea and vomiting
  • Shortness of breath
  • Diarrhea or constipation
  • Pale skin
  • Dizziness and lightheadedness
  • Abnormal heartbeat (tachycardia)
  • Chest pains
  • loss of appetite
  • fatigue

Diagnostic Tests

Pernicious anemia, a condition that leads to vitamin B12 deficiency, can be diagnosed through various tests. Here are some diagnostic tests used to identify pernicious anemia:

  • Serum B12 Test: This test measures the level of vitamin B12 in your blood. A low level may indicate a deficiency.
  • Full Blood Count (FBC): Also known as a complete blood count, this test measures various components of your blood, including red and white blood cells, platelets, and hemoglobin.
  • Serum Holotranscobalamin (HoloTC) – The 'Active' B12 Test: This test specifically measures the active form of vitamin B12 in your blood, which is essential for diagnosing pernicious anemia.
  • Intrinsic Factor Antibody Test: This test can help determine if you have pernicious anemia by detecting antibodies against intrinsic factor, a protein necessary for vitamin B12 absorption.
  • Complete Blood Cell Count (CBC): A CBC measures various components of your blood, including red and white blood cells, platelets, and hemoglobin. It's often the first test used to diagnose many types of anemia, including pernicious anemia.

These tests can help identify pernicious anemia as a cause of vitamin B12 deficiency. However, it's essential to note that a diagnosis is typically made based on a combination of symptoms, physical examination findings, and laboratory results.

Sources:

  • [1] Tests to determine patient's B12 status · Serum B12 Test · The Full Blood Count (or FBC) · Serum Holotranscobalamin (HoloTC) – The 'Active' B12 Test · Plasma ...
  • [3] Often, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small ...
  • [5] An intrinsic factor antibody test can help determine the cause of a vitamin B12 deficiency and confirm a pernicious anemia diagnosis.
  • [8] To help diagnose vitamin deficiency anemias, you might have blood tests that check for: The number and appearance of red blood cells; The amount of vitamin ...

Additional Diagnostic Tests

  • Complete Blood Cell Count (CBC)
  • Full Blood Count (FBC)
  • Serum B12 Test
  • Serum Holotranscobalamin (HoloTC) – The 'Active' B12 Test
  • Intrinsic Factor Antibody Test

Treatment

Treatment Options for Pernicious Anemia

Pernicious anemia, a condition characterized by a deficiency in vitamin B12, can be effectively treated with various medications. The primary goal of treatment is to restore optimal levels of vitamin B12 in the body.

  • Vitamin B12 Injections: Parenteral administration of cyanocobalamin (vitamin B12) is a well-established and reliable treatment for pernicious anemia [7]. Large daily doses are often administered at the initiation of therapy, followed by continued injections or oral medications to maintain optimal levels [1].
  • Oral Medications: In addition to vitamin B12 injections, other routes of administration such as oral supplements are currently under study and may be used in conjunction with injections [8].
  • Specific Treatment Types: Pernicious anemia is usually easy to treat with vitamin B12 shots or pills. Severe cases may require more intensive treatment, including multiple injections per week [9].

Common Medications Used

Some common medications used to treat pernicious anemia include:

  • Cyanocobalamin (vitamin B12)
  • Hydroxocobalamin
  • Nascobal
  • Dodex

These medications are available in various forms, including injectable solutions and oral supplements.

References:

[1] Apr 23, 2024 — Cyanocobalamin may be administered either intramuscularly (IM) or subcutaneously (SC). At the initiation of therapy, large daily doses are ...

[7] by PA McINTYRE · 1960 · Cited by 49 — Introduction Parenteral injection of cyanocobalamin (Vitamin B12) is well established as an effective and reliable treatment for pernicious anemia.

[8] by E Andres · 2012 · Cited by 156 — Treatment is based on the administration of parenteral vitamin B12, although other routes of administration (eg, oral) are currently under study. In the present ...

[9] Specific Types of Treatment. Pernicious anemia usually is easy to treat with vitamin B12 shots or pills. If you have severe pernicious anemia, your doctor may ...

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Pernicious anemia, also known as vitamin B12 deficiency anemia, is a condition where the body cannot properly absorb vitamin B12 from food. This can lead to a range of symptoms and complications if left untreated.

Causes and Contributing Factors

  • Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and Hashimoto's thyroiditis can cause the immune system to attack healthy cells in the stomach, leading to pernicious anemia.
  • Gastric surgery: Removal of all or part of the stomach (gastrectomy) can lead to malabsorption of vitamin B12.
  • Infections: Certain infections such as Crohn's disease and ulcerative colitis can damage the lining of the small intestine, leading to malabsorption of nutrients including vitamin B12.
  • Medications: Long-term use of certain medications such as proton pump inhibitors (PPIs) and histamine-2 (H2) blockers can reduce stomach acid production, making it harder for the body to absorb vitamin B12.

Other Conditions with Similar Symptoms

  • Iron deficiency anemia: This condition is caused by a lack of iron in the blood and can present with similar symptoms to pernicious anemia.
  • Folate deficiency anemia: A deficiency in folate (vitamin B9) can also cause anemia, although it tends to be more common in pregnant women and individuals with certain genetic disorders.
  • Thyroid disorders: Certain thyroid conditions such as hypothyroidism can lead to fatigue, weakness, and other symptoms similar to pernicious anemia.

Key Diagnostic Features

  • Low vitamin B12 levels: A blood test will show low levels of vitamin B12 in the blood.
  • High homocysteine levels: Elevated levels of homocysteine (an amino acid) can indicate a deficiency in vitamin B12 or folate.
  • Megaloblastic anemia: The presence of large, immature red blood cells (megaloblasts) in the bone marrow and peripheral blood is characteristic of pernicious anemia.

Differential Diagnosis

Based on the symptoms and laboratory findings, the differential diagnosis for pernicious anemia includes:

  • Iron deficiency anemia
  • Folate deficiency anemia
  • Thyroid disorders (e.g., hypothyroidism)
  • Autoimmune disorders (e.g., rheumatoid arthritis, lupus)
  • Infections (e.g., Crohn's disease, ulcerative colitis)

Conclusion

Pernicious anemia is a condition characterized by a deficiency in vitamin B12 due to impaired absorption. A thorough medical history, physical examination, and laboratory tests are essential for diagnosing pernicious anemia and distinguishing it from other conditions with similar symptoms.

References

  • "Pernicious Anemia" (2022). MedlinePlus.
  • "Vitamin B12 Deficiency" (2020). Mayo Clinic.
  • "Differential Diagnosis of Pernicious Anemia" (2019). Journal of Clinical Gastroenterology.

Additional Differential Diagnoses

Additional Information

RO_0004029
http://purl.obolibrary.org/obo/DOID_2355
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_8472
owl#someValuesFrom
t388576
owl#annotatedSource
t403731
oboInOwl#hasOBONamespace
disease_ontology
rdf-schema#comment
OMIM mapping confirmed by DO. [SN].
oboInOwl#id
DOID:13381
core#notation
DOID:13381
oboInOwl#hasDbXref
UMLS_CUI:C0002892
oboInOwl#hasExactSynonym
pernicious anaemia
rdf-schema#label
pernicious anemia
IAO_0000115
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#NCIthesaurus
rdf-schema#subClassOf
t403891
RO_0002452
http://purl.obolibrary.org/obo/SYMP_0019177
IDO_0000664
http://purl.obolibrary.org/obo/CL_0000232
relatedICD
http://example.org/icd10/D51.0
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.