Pernicious anemia (vitamin deficiency blood disorder)

Description Anemia caused by a ...

Description

Anemia caused by a low vitamin B12 level secondary to a decreased absorption of B12 from the intestines. Normally, a protein called intrinsic factor binds to B12 in the gut. This enables B12 to be absorbed in the small intestine. Intrinsic factor is made in the lining of the stomach. Low levels of intrinsic factor can result from a disease of the stomach lining, from the body attacking the cells in the stomach that make intrinsic factor and from the body making antibodies against the intrinsic factor. There is also a congenital form that can affect children, but most cases develop gradually and occur after age 30. People with certain conditions are at greater risk of developing pernicious anemia including: Addison's disease, thyroid disease, low parathyroid hormone, pituitary problems, myasthenia gravis, Type 1 diabetes, and vitiligo. In addition to anemia low levels of B12 causes problems with the nerves in the spinal cord causing neurologic problems.

Symptoms

Fatigue, pale skin, fast heart rate, shortness of breath, tingling in the feet and hands, decreased reflexes in the arms and legs, weakness, uncoordinated movements, diarrhea, bleeding gums, loss of smell, poor appetite.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical will be done. A CBC (complete blood cell count) will identify the low red blood cells (anemia) and the abnormally large size of the red cells. Other tests include a B12 level, reticulocyte count, LDH, Schilling test, methylmalonic acid level, serum gastrin and possible a bone marrow biopsy.

Tests:
Bone marrow biopsy, Complete blood count (CBC), reticulocyte count

Specialists:
Internal Medicine, Pediatrics, Family Practice, Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology

Treatment

B12 is replaced by giving injections. Rarely a nasal form is used.