(Vitamin B12 Deficiency · Addison's Anemia · Congenital Pernicious Anemia · Combined Systems Disease)
In this condition factsheet:
The Facts on Pernicious Anemia
The blood that circulates throughout the body performs a number of critical functions. It delivers oxygen, removes carbon dioxide, and carries life-sustaining nutrients. By transporting long-distance messengers such as hormones, blood helps the various parts of the body communicate with each other. These important functions are performed by blood cells working in partnership with the liquid part of the blood (plasma). Most of the cells in it are red blood cells (erythrocytes). White blood cells (leukocytes) are also present in smaller numbers. Their role is to defend your body against foreign material, including infections, viruses, and fungi.
Anemia is a state that occurs when hemoglobin (an iron-protein compound in red blood cells that transports oxygen) is decreased and your body has too few red blood cells. When there are too few red blood cells due to a lack of vitamin B12, the condition is described as pernicious anemia. The term pernicious was adopted many years ago when there was no effective treatment and this condition was inevitably fatal. Today, excellent therapies are available and most people can lead a normal life with very little adverse effects.
Pernicious anemia can affect all racial groups, but the incidence is higher among fair-haired people, especially those whose ancestors came from Scandinavia or Northern Europe. It usually doesn't appear before the age of 30, although a juvenile form of the disease can occur in children. About one in every 1,000 people is affected.
Alternative names for pernicious anemia are vitamin B12 deficiency (malabsorption), Addison's anemia, congenital pernicious anemia, and combined systems disease.
Causes of Pernicious Anemia
Pernicious anemia is caused by a deficiency of vitamin B12, which is needed for normal production of red blood cells. It is often hereditary. Risk factors include a history of autoimmune endocrine disorders, a family history of pernicious anemia, and Scandinavian or Northern European descent.
The meat and dairy products we eat are our primary sources of vitamin B12. However, except in strict vegetarians, pernicious anemia isn't simply caused by not eating enough of these foods. Usually, it is because of a failure in the complex process the digestive tract must go through to absorb vitamin B12.
In order for vitamin B12 to be absorbed by the small intestine, the cells that line a part of the stomach must produce a substance called intrinsic factor (IF). This substance attaches itself to vitamin B12, and both are absorbed in combination into the lowest portion of the small bowel (ileum), just before the small bowel enters the colon. If the ileum is damaged or removed in the course of surgery, the intrinsic factor/vitamin B12 combination will not be absorbed. People with conditions like Crohn's disease, who often have surgery to remove part of their ileum (the part of the small intestine where vitamin B12 is absorbed), should be screened for vitamin B12 deficiency and treated if needed.
Lack of intrinsic factor may also be congenital (present at birth). This form of pernicious anemia (called juvenile or congenital) is usually seen before a child is three years old. It is believed that only one parent needs to carry the gene for this disorder to pass it along to a child.
Less common causes of decreased B12 absorption include chronic pancreatitis, malabsorption syndromes, certain medications, and, very rarely, increased metabolism of B12 through longstanding hyperthyroidism. A very common cause of B12 deficiency in the elderly is inadequate absorption of dietary B12.
Pernicious anemia is often is also seen in combination with some autoimmune endocrine (gland) diseases such as type 1 diabetes, hypoparathyroidism, Addison's disease, and testicular dysfunction.
Symptoms and Complications of Pernicious Anemia
In most cases, there are no early signs of pernicious anemia. As the disorder progresses, there may be shortness of breath and less endurance during exercise. A noticeable rapid heartbeat may also be evident. People with pernicious anemia often have very low hemoglobin but few symptoms of low hemoglobin, such as fatigue. They may also develop low levels of white blood cells (important in fighting infections) and platelets (needed to help clot blood and stop bleeding). However, infections and bleeding complications rarely occur in people with pernicious anemia. Other symptoms that may develop include:
- pale skin
- a sore tongue
- poor appetite and loss of weight
- tingling and numbness of hands and feet
- disturbed walking gait and balance (especially in the dark)
- mental changes, including memory loss, irritability, mild depression, and dementia
- yellow-blue colour blindness
If left untreated, the lack of vitamin B12 may gradually affect the sensory and motor nerves and cause neurological effects. The anemia can also affect the gastrointestinal system and cardiovascular systems, result in tongue problems, impair the sense of smell, and cause bleeding gums and the loss of deep tendon reflexes. In very advanced cases, paranoia, delirium, and confusion may also occur.
Pernicious anemia is a chronic disease that progresses slowly and steadily. In the past, before much was known about the disease and there was no treatment, it would eventually cause death after many years of suffering. Today, the prognosis is excellent. Replacement therapy with adequate amounts of vitamin B12 will correct the deficiency and allow a person to lead a normal life.
If the condition progresses for a long time before it's detected, it may damage certain parts of the body, primarily the nervous and digestive systems. Gastric polyps may develop, which leads to a greater chance of developing gastric cancer. Vitamin B12 deficiency will affect the appearance of epithelial cells on the cervix, and an untreated woman may get a false positive result on a Pap test.