Addison-Biermer anemia

Addison-Biermer Anemia Addison-Biermer Anemia, also known as pernicious anemia, is a rare autoimmune disorder characterized by the body's inability to absorb vitamin B12, leading to a deficiency. This condition is named after Thomas Addison and Anton Biermer, who were instrumental in its discovery and understanding.

Pathophysiology

Addison-Biermer Anemia is primarily caused by the lack of intrinsic factor, a protein secreted by the stomach's parietal cells. Intrinsic factor is essential for the absorption of vitamin B12 in the ileum. Without it, vitamin B12 cannot be absorbed, leading to a deficiency.

Vitamin B12

Vitamin B12, also known as cobalamin, is crucial for DNA synthesis and the proper formation of red blood cells. It is also important for neurological function. A deficiency in vitamin B12 can lead to megaloblastic anemia, where red blood cells are larger than normal and not fully developed.

Autoimmune Component

In Addison-Biermer Anemia, the body's immune system mistakenly attacks the stomach's parietal cells or intrinsic factor itself, leading to a decrease in intrinsic factor production. This autoimmune response is a key feature of the disease.

Symptoms

The symptoms of Addison-Biermer Anemia can be varied and may include:

• Fatigue and weakness
• Pale or jaundiced skin
• Shortness of breath
• Heart palpitations
• Neurological symptoms such as numbness or tingling in the hands and feet
• Difficulty walking
• Cognitive changes such as memory loss or confusion

Diagnosis

Diagnosis of Addison-Biermer Anemia typically involves:

• Blood tests to measure vitamin B12 levels
• Complete blood count (CBC) to check for anemia
• Tests for intrinsic factor antibodies
• Schilling test (historically used but now less common)

Treatment

The primary treatment for Addison-Biermer Anemia is vitamin B12 supplementation. This can be administered through:

• Intramuscular injections of vitamin B12
• High-dose oral vitamin B12 supplements

Prognosis

With appropriate treatment, individuals with Addison-Biermer Anemia can lead normal, healthy lives. However, if left untreated, the condition can lead to severe neurological complications and other health issues.

See Also

• Megaloblastic anemia
• Vitamin B12 deficiency
• Autoimmune disorders

External Links

• National Organization for Rare Disorders
• [Mayo Clinic - Pernicious Anemia](https://www.mayoclinic.org)

NIH genetic and rare disease info

• NIH info on Addison-Biermer anemia

Addison-Biermer anemia is a rare disease.