At AskDoctor.ai, we have created this content to provide you with valuable knowledge about Pernicious Anaemia – an autoimmune disorder. Our goal is to offer both information and inspiration—helping you understand the condition. You are not alone; through knowledge and community, we believe you can confidently navigate this journey.
Pernicious anaemia, a condition that affects millions of people around the world, is an autoimmune disorder that leads to vitamin B12 deficiency. While it may sound like a rare and complicated illness, it’s something many people struggle with every day. For instance, in the United States, one in 1000 people suffer from the condition.
In this blog, we’ll dive into what pernicious anaemia is, how it develops, its symptoms, and the available treatments. We’ll also highlight the importance of vitamin B12 in your body and why deficiencies can have such a significant impact on your health.
What is Pernicious Anaemia?
Pernicious anaemia is a type of anaemia caused by an autoimmune response that prevents the body from absorbing vitamin B12. Vitamin B12 is essential for producing healthy red blood cells, and without it, the body can’t make enough of these cells. The result? A reduction in the number of red blood cells can lead to symptoms like fatigue, dizziness, and weakness.
While pernicious anaemia is related to vitamin B12 deficiency, it’s not the same as simply having low levels of B12 due to dietary habits. The condition occurs because of an autoimmune reaction where the body’s immune system attacks the stomach cells that produce a protein called intrinsic factor (IF). This protein is essential for the absorption of vitamin B12 in the small intestine.
Why is Vitamin B12 Important?
Before we dive into how pernicious anaemia affects the body, it’s crucial to understand why vitamin B12 is so important. Vitamin B12 plays several key roles, including:
- Red Blood Cell Production: B12 is vital for the production of red blood cells. When B12 levels are low, the body can’t produce enough healthy red blood cells, leading to anaemia.
- Nervous System Function: B12 is essential for the maintenance of nerve cells. Deficiency can result in nerve damage, leading to symptoms like numbness, tingling, and difficulty with balance.
- DNA Synthesis: Vitamin B12 is involved in DNA production, which is crucial for the division and growth of cells.
In short, without vitamin B12, the body cannot produce the cells necessary for normal functioning. That’s why a deficiency in this vitamin can have such wide-ranging effects.
Causes of Pernicious Anaemia
The root cause of pernicious anaemia lies in the immune system. The immune system mistakenly attacks the cells of the stomach lining that produce intrinsic factor (IF), a protein needed for B12 absorption. B12 cannot be absorbed in the intestines without the intrinsic factor, leading to deficiency.
Several factors can increase the risk of developing pernicious anaemia:
- Genetics:
It’s believed that some people are genetically predisposed to pernicious anaemia, as it tends to run in families. Studies suggest that 15%–25% of individuals with pernicious anaemia have a first-degree relative (parent, sibling, or child) who also has the condition. This indicates a strong familial or genetic component.
- Age:
Older adults are more likely to develop this condition. As people age, their stomachs often produce less intrinsic factor, making absorption of B12 more difficult.
- Other Autoimmune Conditions:
People with other autoimmune disorders, such as type 1 diabetes, Hashimoto’s thyroiditis, or Graves’ disease, are at higher risk.
- Gastric Surgery:
Surgery that removes part of the stomach or alters the digestive tract can also lead to a lack of intrinsic factor and a higher risk of pernicious anaemia.
- Vitamin B12 Deficiency from Diet:
While pernicious anaemia itself is caused by an autoimmune issue, other forms of B12 deficiency are due to dietary factors, especially in people who follow a vegetarian or vegan diet, as B12 is primarily found in animal products.
Symptoms of Pernicious Anaemia
Pernicious anaemia can be tricky to diagnose because its symptoms are often vague and can be attributed to other conditions. Some of the most common symptoms include:
- Fatigue:
One of the most noticeable signs is feeling unusually tired, even after a good night’s rest. This happens because your body isn’t producing enough healthy red blood cells to carry oxygen to tissues. For instance, studies show that over 90% of people with pernicious anemia report persistent fatigue as a primary symptom. And because this tiredness can be subtle or mistaken for stress or aging, many people don’t realize they’re dealing with something more serious until the condition progresses.
- Paleness:
Low red blood cell count leads to paleness in the skin, especially noticeable in lighter-skinned individuals.
- Shortness of Breath and Dizziness:
A lack of red blood cells means the body isn’t getting enough oxygen, leading to symptoms like dizziness and shortness of breath. For instance, a study published in The American Journal of Medicine found that over 70% of patients with untreated pernicious anaemia experienced shortness of breath and light-headedness as primary complaints.
- Numbness and Tingling:
B12 deficiency can cause nerve damage, which manifests as tingling or numbness in the hands and feet.
- Cognitive Problems:
People with pernicious anaemia may experience memory problems, confusion, and difficulty concentrating. In severe cases, it can even mimic symptoms of dementia.
- Glossitis: This is a condition where the tongue becomes swollen, smooth, and inflamed, which is another common symptom of pernicious anaemia.
- Heart Palpitations: The heart may beat faster in an attempt to compensate for the lack of red blood cells.
The progression of these symptoms can be slow and subtle, making it difficult for patients to recognise that something is wrong until it becomes quite advanced.
Diagnosis of Pernicious Anaemia
To diagnose pernicious anaemia, doctors often perform a combination of blood tests and other diagnostic procedures. The key tests include:
- Complete Blood Count (CBC): This test checks for low levels of red blood cells, haemoglobin, and hematocrit, which are signs of anaemia.
- Vitamin B12 Levels: A B12 blood test measures the amount of B12 in the blood. However, this test alone is not always conclusive since other factors can cause low B12 levels.
- Intrinsic Factor Antibody Test: This test looks for antibodies that are attacking intrinsic factor, confirming the autoimmune nature of pernicious anaemia.
- Methylmalonic Acid (MMA) and Homocysteine Test: Elevated levels of MMA and homocysteine in the blood are another indicator of B12 deficiency.
- Schilling Test: This outdated test used to be a standard diagnostic tool for pernicious anaemia but is now rarely used.
A combination of these tests is often necessary for a definitive diagnosis of pernicious anaemia.
Treatment for Pernicious Anaemia
The primary treatment for pernicious anaemia is lifelong vitamin B12 replacement. There are several ways to administer B12, depending on the severity of the deficiency and the patient’s ability to absorb the vitamin:
- B12 Injections: Initially, many patients require B12 injections, often given once a week or once a month, to rapidly restore B12 levels. These injections bypass the digestive system, directly delivering the vitamin into the bloodstream.
- Oral B12 Supplements: Once levels are stabilised, patients may be switched to oral supplements. However, people with pernicious anaemia may have trouble absorbing B12 from oral supplements, so higher doses are often required.
- Nasal B12 Spray: A B12 nasal spray is another option for some individuals, especially if they prefer not to have injections. B12 nasal sprays can raise serum B12 levels in over 90% of users.
- Dietary Adjustments: In cases where pernicious anaemia is accompanied by a dietary deficiency, patients are advised to eat B12-rich foods, such as meat, eggs, and dairy products. However, this may not be sufficient for people with pernicious anaemia since their bodies cannot absorb B12 properly without intrinsic factor.
- Folate and Iron Supplements: Sometimes, patients with pernicious anaemia also need supplements for iron or folate, as these nutrients can be depleted due to anaemia.
The good news is that once diagnosed and treated, most people with pernicious anaemia can lead normal, healthy lives. However, untreated pernicious anaemia can lead to severe complications, including nerve damage and heart problems, so early diagnosis and treatment are critical.
Statistics and Prevalence
Pernicious anaemia is more common than many people realise. It’s estimated that around 1 in 1,000 people worldwide are affected by this condition, though many remain undiagnosed. The condition primarily affects older adults, with most cases occurring in people over the age of 60. Women are also more likely to develop pernicious anaemia than men, with the condition being diagnosed in women about three times more often than in men.
In terms of global prevalence, the UK has a relatively high incidence, with studies suggesting that approximately 0.1% to 0.3% of the population is living with pernicious anaemia. In the United States, the number is thought to be about 1 in 1,000 people, but many cases go undiagnosed, particularly among people who don’t have regular medical check-ups.
A Comprehensive Approach
Reddit User Amazing Butterfly was diagnosed with pernicious anaemia after experiencing a range of symptoms, including extreme fatigue, heavy and painful legs, shortness of breath, tinnitus, and bleeding gums. While they still occasionally wake up with some pain, their condition has improved significantly.
With regular B12 injections from a mobile clinic, a daily dose of 5000 mcg of B12, and all the necessary co-factors, they’ve made remarkable progress. Although some days are still challenging, they’re feeling much better overall and are incredibly thankful for how far they’ve come.
Diagnosis After A Long Ordeal
Reddit User ClamNaked began experiencing a range of troubling symptoms, including brain fog, extreme fatigue, digestive issues, and anxiety in their late 30s. Despite eating a diet rich in vitamin B12—consisting of liver, red meat, and seafood—the symptoms persisted. Blood tests revealed that their B12 levels were at the very low end of the normal range, while vitamin D levels were below normal.
Given their family history of pernicious anaemia, they informed their doctor, who promptly ordered tests for intrinsic factor and intrinsic factor antibodies. These tests confirmed the diagnosis of pernicious anaemia, explaining why their body couldn’t absorb B12 properly, despite adequate dietary intake.
Untreated B12 Deficiency: Jimmy’s Story
You can also check out this moving and inspiring story of Jimmy’s struggle with B12 deficiency and the ordeal of getting the right diagnosis.
Management of Pernicious Anaemia Begins With Knowledge
Pernicious anaemia is a serious but manageable condition that affects the body’s ability to absorb vitamin B12, leading to a deficiency that can cause a range of debilitating symptoms. It’s important to understand the role of vitamin B12 in the body and how its absence can impact your health. If you’re experiencing any of the symptoms associated with pernicious anaemia, it’s crucial to consult a doctor and get tested. The earlier the diagnosis, the better the outcome.
With appropriate treatment, such as B12 injections or supplements, people with pernicious anaemia can manage their condition effectively and live healthy, active lives. If you have a family history of autoimmune disorders or other risk factors, regular monitoring and blood tests can help catch the condition before it becomes more severe.
Stay informed, and take proactive steps toward managing your health – after all, a well-balanced body starts with the right nutrients!
References
National Library of Medicine
Research Gate
Bio Medical Central
Reddit B12_Deficiency Community
Youtube – Slater and Gordon Lawyers
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