Pernicious Anemia: Symptoms, Causes and Treatment Essentials

Pernicious Anemia: Symptoms, Causes and Treatment Essentials

Pernicious anemia should not be considered as just another deficiency but rather it’s an autoimmune disorder that can disrupt how your body absorbs vitamin B12. This condition affects the body’s ability to produce red blood cells, which in turn affects oxygen transportation and overall health. 

Symptoms for pernicious anemia range from general fatigue to severe neurological issues. This blog offers a comprehensive overview of its symptoms, causes, and treatment options, so you can understand how to manage and mitigate the impacts of this complex disorder.

What is Pernicious Anemia?

Pernicious anemia is a unique type of vitamin B12 deficiency anemia. In this condition, the body cannot properly absorb vitamin B12, leading to decreased production of red blood cells. As red blood cells transport oxygen from the lungs to various tissues in the body, their deficiency leads to anemia. 

In this condition, the body often produces red blood cells that are larger than normal and underdeveloped, a condition known as megaloblastic anemia. These malformed cells can't properly carry oxygen.


Pernicious anemia is relatively rare as it affects about 0.1% of the general population. However, its occurrence can increase with age and affect around 2% of people over 60.

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The impact of pernicious anemia can be mild or severe. Check out these symptoms to understand their impact on your health.

Common Pernicious Anemia Symptoms

There are many symptoms, some of which are more obvious while others are subtle. Here's what you need to look out for:

Digestive Issues

People with this condition often experience digestive problems, such as diarrhea, constipation, nausea, and vomiting. The deficiency affects the stomach lining and impairs how it absorbs nutrients. 

General Fatigue and Lightheadedness 

One of the most common and tiring symptoms is feeling tired all the time. You may feel dizzy or lightheaded while doing simple activities as your body isn’t getting enough oxygen.

Loss of Appetite and Weight Loss 

A loss of appetite can occur which leads to subsequent weight loss. This is because the body's metabolic functions are impaired due to the lack of vitamin B12.

Pale or Jaundiced Skin 

The skin may appear pale or even jaundiced. Jaundice can make the skin, eyes, and mucous membranes take on a yellow hue. It’s one of the visible indicators that there are underlying issues with red blood cells.

Shortness of Breath 

Another significant symptom can be shortness of breath, particularly during exercise. This happens because the blood can’t carry oxygen so it’s harder for the body to meet the demands of physical activity.

Heartburn and Gastrointestinal Discomfort 

Gastrointestinal issues like heartburn and discomfort are also common. Your stomach and digestive system struggle due to a lack of vitamin B12, which can result in atrophic gastritis. This can further contribute to digestive issues like abdominal pain, gas, bloating, belching, and constipation.

Swollen, Red Tongue, and Bleeding Gums 

A swollen, smooth, red tongue (known as glossitis) and bleeding gums are frequent symptoms. Vitamin B12 is crucial for maintaining healthy mucous membranes, and its deficiency can also lead to mouth ulcers and an unpleasant metallic taste in the mouth.

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Although these symptoms may seem general at first, they may be linked to pernicious anemia. If they’re not treated on time, long-term vitamin B12 deficiency can lead to advanced symptoms.

Advanced Symptoms

A prolonged vitamin B12 deficiency can lead to a range of neurological symptoms that impact daily life. Let's delve deeper into these advanced symptoms and understand how they occur:

Confusion and Short-Term Memory Loss 

Long-term B12 deficiency may lead to cognitive impairment. In this, you might find yourself becoming forgetful or confused more easily as the brain is not getting the required oxygen. It can make simple tasks more challenging and impact the quality of life.

Depression and Irritability 

Long-term vitamin B12 deficiency can also take a toll on your emotional health. You may experience depression and irritability, alongside mood swings and anxiety. This is because vitamin B12 plays a role in the synthesis of neurotransmitters such as serotonin and dopamine, which are crucial for mood regulation.

Balance Issues and Frequent Falls 

The deficiency can affect your nervous system and may damage it. Nerve damage often leads to balance issues and coordination problems (ataxia). This symptom is particularly dangerous as it increases the risk of injury.

Numbness and Tingling in Hands and Feet 

Peripheral neuropathy refers to when you feel numbness and tingling sensations in the hands and feet. It is a common and early sign of vitamin B12 deficiency. If untreated, these symptoms can progress and lead to a broader loss of sensation and motor function.

Difficulty Concentrating 

Many people with advanced pernicious anemia find it hard to concentrate. It can affect daily activities like work, reading, or even holding a conversation.

Hallucinations and Delusions 

In more extreme cases, individuals might experience hallucinations or delusions. This happens when the brain is significantly impacted by a lack of oxygen. These symptoms may be rare, but they highlight how important it is to address pernicious anemia early. 

Optic Nerve Degeneration 

Long-term deficiency can also damage the optic nerve, which connects your eyes to your brain. This occurs because vitamin B12 is vital for the maintenance of the myelin sheath around nerves, including those in the eyes. You may start noticing vision problems, such as blurry vision or even loss of sight.

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For a better understanding, check out this video that provides an overview of Pernicious Anemia, including causes, symptoms, and treatments.

https://www.youtube.com/watch?v=yKjhpyxgYbE

The next step to take after finding out the symptoms is understanding what causes pernicious anemia. 

Causes of Pernicious Anemia

There are many underlying causes, most of which are linked to the body not absorbing enough vitamin B12. 

Autoimmune Response

Pernicious anemia mainly occurs due to an autoimmune response. The body's immune system mistakenly targets the parietal cells in the stomach lining, which are its own healthy cells. These cells help produce intrinsic factor, which is a protein crucial for vitamin B12 absorption in the small intestine. 

The immune system doesn't stop there; it also creates antibodies that attack the intrinsic factor itself. This further blocks the absorption of vitamin B12.

Weak Stomach Lining (Atrophic Gastritis) 

Another contributing factor is atrophic gastritis. This occurs when the lining of your stomach becomes thinner over time. As a result, the stomach lining becomes less effective at producing both stomach acid and intrinsic factors. Less intrinsic factor leads to poor absorption of vitamin B12. 

Atrophic gastritis is more common among older adults and people of Northern European or Scandinavian descent. It often develops silently over many years.

Genetic Predispositions

Genetics can also play a role. Congenital pernicious anemia is a rare inherited disorder where children are born unable to produce intrinsic factors or absorb vitamin B12 efficiently. If there is a family history of pernicious anemia or other autoimmune conditions, it can increase the risk of developing this condition.

Surgical Removal

Surgical removal of parts of the stomach or small intestine can often lead to pernicious anemia. This is because the areas of your digestive system that are responsible for absorbing vitamin B12 may be compromised or removed entirely. 

Surgeries like gastrectomy reduce the number of parietal cells and limit the production of intrinsic factors. These surgeries require you to constantly monitor vitamin B12 deficiency and may require lifelong supplementation.

Small Intestine Bacterial Overgrowth (SIBO)

This condition occurs when bacteria that normally live in the large intestine start growing in the small intestine and consuming the available vitamin B12. This leaves little to be absorbed by the body. SIBO often causes symptoms like bloating, diarrhea, and abdominal pain, in addition to signs of vitamin B12 deficiency. 

SIBO is usually diagnosed using breath tests or endoscopy. The treatment includes antibiotics to manage bacterial growth and address malabsorption issues.

If you suspect that you or someone you know may have pernicious anemia symptoms, it’s important to get a proper diagnosis. 

Recommended Diagnostic Tests

Patients can undergo a range of diagnostic tests to understand and correctly diagnose the symptoms. Each test provides insights to confirm its presence and differentiate it from other types of anemia. Let's break down the recommended diagnostic tests for this condition.

Complete Blood Count (CBC) and Serum Cobalamin Levels

A Complete Blood Count (CBC) is typically the first step in diagnosing this condition. This test measures various components of the blood: 

  • Hemoglobin and hematocrit are usually low in pernicious anemia.
  • The red blood cell count tends to be low, and the red blood cells themselves are often larger than normal (macrocytic anemia).
  • Low levels of vitamin B12 in the blood indicate this condition, though sometimes the levels can appear normal or high if antibodies interfere with the test.

Reticulocyte Count and Lactate Dehydrogenase (LDH) Level

A reticulocyte count measures the number of young red blood cells in the bloodstream. A low count suggests the bone marrow isn't producing enough red blood cells. 

LDH is an enzyme that may be elevated due to increased cell turnover or damage, which is common in pernicious anemia. However, elevated LDH is not specific to this condition alone.

Serum Bilirubin and Methylmalonic Acid (MMA) Level

High bilirubin levels can indicate hemolysis (the breakdown of red blood cells). However, this test is more about ruling out other causes of anemia rather than confirming pernicious anemia.

Elevated MMA levels are a sensitive indicator of vitamin B12 deficiency. MMA levels rise when your body lacks enough vitamin B12.

Homocysteine Level

Homocysteine is an amino acid that your body usually breaks down with the help of vitamins B12, B6, and folate. High levels of homocysteine in the blood, coupled with high MMA levels, are another marker of vitamin B12 deficiency. 

Testing for Antibodies Against Intrinsic Factor or Cells Producing Intrinsic Factor

Doctors may test for antibodies against intrinsic factors or the cells that produce them. A positive result strongly indicates this condition, but a negative result doesn't rule it out.

Once diagnosed with pernicious anemia, it’s important to get proper treatment and prevent long-term issues. The good news is that treatment is straightforward and effective, but it often requires you to pay lifelong attention.

Treatment Options

Treating this condition revolves around lifelong vitamin B12 supplementation. Because the body can’t produce intrinsic factors to absorb vitamin B12 naturally, consistent supplementation is helpful.

Monthly Vitamin B12 Injections or High-Dose Oral Supplements 

The most common treatment approach involves monthly vitamin B12 injections. These are intramuscular shots that deliver the vitamin directly into your bloodstream. They are given daily or weekly to quickly restore B12 levels. Once levels are in a healthy range, patients typically shift to a monthly injection schedule to maintain them.

High-dose oral supplementation is an alternative to injections. Although only about 10% of orally administered vitamin B12 is absorbed, the pills can still be sufficient for many patients as they contain much higher amounts of B12. However, those with severe deficiencies or neurological symptoms may require injections initially.

Intranasal Vitamin B12 Application 

Another option is intranasal vitamin B12, available as gels and sprays. This method can be particularly beneficial for older adults or anyone who struggles with swallowing pills. However, its efficacy depends on individual absorption rates, so it should be administered under a healthcare provider's supervision.

Early Treatment

Early treatment is critical to prevent irreversible nerve damage. If left untreated, vitamin B12 deficiency can lead to severe neurological issues like unsteady gait, peripheral neuropathy, muscle weakness, depression, memory loss, and even dementia.

Regular follow-ups with healthcare providers can help you monitor B12 levels and adjust the treatment regimen as needed. However, serious issues can arise if conditions are left unsupervised. It’s important to be aware of these risks.

Potential Complications

If left untreated, it can lead to several serious health issues such as:

Increased Risk for Gastric Polyps and Cancers 

One major concern is the high risk of gastric polyps and gastric cancer. This stems from the damage to the stomach lining caused by the autoimmune response. Research shows that patients with this condition have a significantly higher chance of developing gastric adenocarcinoma compared to the general population. 

Potential Bone Fractures 

Another complication is the increased risk of bone fractures. Vitamin B12 deficiency can lead to osteoporosis (weak bones) and make fractures more likely. You can prevent this issue by maintaining adequate levels of vitamin B12 through treatment.

Neurological Issues 

Prolonged B12 deficiency can cause continuous or even permanent issues like memory loss, difficulty walking, or problems with balance and coordination. Consistent and timely treatment is essential to avoid complications.

Conclusion

Pernicious anemia is a serious condition, but with early detection and consistent treatment, you can manage it effectively and prevent long-term complications. To avoid irreversible damage, you must recognize the signs and symptoms early on. 

Collaboration between different healthcare professionals can help in the proper management of this serious condition. Working with a team, from your primary care doctor to specialists, can help you closely monitor and treat the issues. 

It’s essential to be aware of the potential risks associated with untreated pernicious anemia, like nerve damage or an increased risk of gastric cancer. Regular blood tests and symptom tracking can help you keep these risks in check. 

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