Pernicious anemia is a chronic rare blood disease that is defined by the body’s inability in properly utilizing vitamin B12, a very important component in the formation of red blood cells, neurological functions, and DNA synthesis. It is caused by a deficiency of vitamin B12 due to a number of factors such as the lack of intrinsic factor, a gastric protein needed by the body in order to absorb vitamin B12, a problem in the process that the digestive tract needs to go through, genetic mutations, cellular intake mutations, intrinsic factor mutations, autoimmune endocrine disorders, and transcobalamin mutations.
Pernicious anemia does not usually appear before an individual turns 30. The onset of this disease is slow and steady and it may take decades. In many cases of pernicious anemia, there are no early signs or symptoms of the disease. As it progresses, an individual who possibly has the disease may feel shortness of breath and less or low endurance during a workout. The heartbeat may also be noticeably rapid. Individuals affected by the disease frequently have very low hemoglobin and also low levels of platelets and white blood cells but are not physically evident. Bleeding complications and infections may still occur but they only occur on rare occasions. Other symptoms and signs of pernicious anemia include the following:
- Sore tongue
- Pale skin
- Difficulty in balancing or disturbed walking gait
- Poor appetite
- Bleeding gums
- Loss of weight
- Yellow-blue color blindness
- Numbness and tingling sensation in the feet and hands
- Damaged sense of smell
- Memory loss, mild depression, irritability, and dementia
Congenital Pernicious Anemia
Although pernicious anemia does not usually appear before 30 years of age, there is a juvenile and congenital form of the disease. The lack of intrinsic factor can also be congenital which means that the intrinsic factor is already lacking at birth. This type of pernicious anemia is called congenital anemia as it is seen at birth. Congenital anemia is inherited as an autosomal recessive trait that can be brought about by a recessive gene wherein even if only one parent carries the abnormal gene for this disease, it can be passed along to a child.
The symptoms of congenital pernicious anemia are similar to that of the juvenile form of the disorder. These symptoms of progress comparatively slow. The symptoms are too slow that the signs and symptoms of neurological problems may appear first before the signs of a decline or decrease in blood capacity. The symptoms of the congenital form may include:
- Dyspnea or difficulty breathing
- Generalized fatigue and weakness
- Abdominal pain
- Tachycardia or unusually rapid heartbeat
- Angina or chest pains
- Gastrointestinal problems
- Anorexia or serious lack of appetite
- Weight loss
There are certain individuals who may have an abnormal and unusually enlarged spleen or liver. Other problems that have something to do with the urinary function may develop.
Juvenile Pernicious Anemia
The symptoms and signs of juvenile pernicious anemia on the other hand usually show when an infant or child is between 28 months up to 4 years old. Juvenile pernicious anemia, just like congenital pernicious anemia, is also inherited as an autosomal recessive trait. Most of the infants affected by the disease develop a different type of anemia called megaloblastic anemia wherein large and premature red blood cells are located in the blood or megaloblasts which impair the ability of blood to carry oxygen to the different body tissues. There can also be a lack of white blood cells and platelets. The symptoms of the disease may include:
- A headache
- Insomnia or difficulty in sleeping
- Lack of appetite
- Jaundice or yellowing of the skin
- Failure to thrive
- Pale complexion
Another common symptom in infants affected by the juvenile form is mental retardation. They may also experience periodic incidents of extreme jaundice and anemia. Blood protein is present in the urine for some children affected by the juvenile form of pernicious anemia. Some of them may also have urinary tract problems or malformations.
Pernicious anemia may often be considered as a disease that mostly affects the elderly but while a lot of older people suffer from the disease, the disease is also diagnosed in all ages. Pernicious anemia has been diagnosed in individuals as young as 11 months old up to as old as 99 years old. This disease is more frequently diagnosed in individuals who are 41 to 50 years of age. The problem is that it is difficult to diagnose this disease in young people because the symptoms seen in them are often linked with other diseases. Most individuals are diagnosed with pernicious anemia in their forties.
Most elderly individuals with pernicious anemia have developed the condition because of the gastric atrophy or decline in some of their gastric functions that comes naturally with aging. For younger individuals, the development of the disease is caused by the lack of intrinsic factor or the body’s production of antibodies that attack and/or destroy the produced intrinsic factor.