What is Plummer-Vinson Syndrome?
Plummer-Vinson syndrome (PVS), or Paterson-Brown-Kelly syndrome in the United Kingdom, is a rare medical condition. It is recognized by a combination of three symptoms: difficulty swallowing due to a narrow area in the esophagus, anemia resulting from an iron deficiency, and webs or growths in the upper part of the esophagus. This condition generally affects middle-aged women and could increase the risk of developing a type of throat or esophageal cancer known as squamous cell carcinoma. This condition was named Plummer-Vinson syndrome after two doctors, Henry Stanley Plummer and Porter Paisley Vinson, who observed cases of iron deficiency and difficulty in swallowing, which they suspected were due to a certain spasmodic action or an abnormal bend in the esophagus.
What Causes Plummer-Vinson Syndrome?
Plummer-Vinson syndrome is a medical issue that even after 100 years, doctors aren’t quite sure what causes it. They have a few ideas – nutritional and iron deficiencies, genetic factors, and immune system abnormalities. Yet, the only strong link appears to be with iron deficiency. What leads them to believe this is that the symptoms of the syndrome, particularly difficulty swallowing, seem to improve when patients take iron supplements. Also, it is suspected that a lack of iron may cause a condition called mucositis, which can lead to the formation of webs in the throat.
People with Plummer-Vinson syndrome may also be malnourished, so a lack of vitamin B could be a cause, but the evidence for this is not very solid or overwhelming. The syndrome has been found in individuals with other illnesses, like celiac disease, Crohn’s disease, rheumatoid arthritis and thyroid diseases, hinting that the immune system might have a role in causing it, but there’s no solid proof of this yet. Regardless of the cause, if someone has Plummer-Vinson syndrome, it’s important to investigate these causes, particular iron deficiency. It could be due to issues like blood loss in the stomach and intestines or celiac disease.
Risk Factors and Frequency for Plummer-Vinson Syndrome
Plummer-Vinson syndrome is quite rare, so there’s not a lot of information available about how often it occurs. It used to be more common in northern countries with cooler climates, but has become less common due to better nutrition and the ability to fix iron deficiencies. The presence of ‘webs’ in the esophagus is a feature of this syndrome, but they don’t always cause symptoms and aren’t enough on their own to diagnose the condition. Some studies in the 1960s have found that such webs occur in between 0.3% and 1.1% of women, and between 8.4% to 22.4% of women with difficulty swallowing, interestingly no such webs were found in men.
During the first half of the 20th century, this condition was more frequently found in middle-aged women from Scandinavia. However, the instance of the syndrome decreased in the latter half of the century due to improved nutrition and iron fortifying processes. Despite being primarily reported in the white population, Plummer-Vinson syndrome is more commonly seen in women. In fact, previous Scandinavian studies report up to 90% of Plummer-Vinson syndrome cases were in women. The usual age of diagnosis ranges from 40 to 70 years, yet there are occasional cases seen in children.
Signs and Symptoms of Plummer-Vinson Syndrome
Plummer-Vinson syndrome is a medical condition that may not initially show any symptoms. It typically features a combination of iron-deficiency anemia, trouble swallowing due to a web-like formation in the upper esophagus, and dysphagia (difficulty swallowing) in the area behind the voice box.
When someone has a long-term iron deficiency, they may experience symptoms like breathlessness, rapid heartbeat, weakness, pale skin, and abnormal spoon-shaped nails. Difficulty swallowing tends to develop slowly and starts with issues swallowing solid foods, eventually moving onto liquids after a few years. These swallowing difficulties only tend to become noticeable when the diameter of the esophagus near the web-like formation narrows to less than 12 mm.
In Plummer-Vinson syndrome, there are generally two grades of swallowing difficulty. In grade I, a person may occasionally have trouble swallowing solids, while in grade II, they may only be able to swallow semi-solid foods. Additional signs may include a painful and inflamed tongue and development of a condition called angular cheilitis, which causes redness and cracking at the corners of the mouth.
Some patients with Plummer-Vinson syndrome have also shown symptoms like an enlarged spleen, an increased size of the thyroid gland with noticeable lumps, and tooth loss.
Testing for Plummer-Vinson Syndrome
Even though Plummer-Vinson syndrome is uncommon, it’s essential to be aware of it if you have iron-deficiency anemia, esophageal webs, and difficulty swallowing from the voice box. To determine the source of your iron deficiency and the seriousness of your anemia, your doctor might perform specific blood tests. While complete blood count checks the number of different cells in your blood, peripheral smear gives a clear picture of the types of cells. Tests to measure iron levels in your blood, like serum iron, ferritin, total iron-binding capacity, and transferrin saturation, can help confirm that anemia is due to iron deficiency. Other tests may be employed to identify the root cause of your iron deficiency.
If esophageal web is suspected, your doctor might use an imaging test called barium swallow. Barium swallow is quite accessible, even in distant areas, and the images can be saved for future references. Another technique called videofluoroscopy is usually more successful at showing esophageal webs. It uses X-rays to visualize the swallowing process when you gulp a barium drink, thus helping discover smaller webs or differentiate between true and incorrect webs.
The safest and most reliable tool for examining the gastrointestinal tract is endoscopy that uses a long, flexible tube with a tiny camera on the end. Esophagoscopy, a type of endoscopy focusing on the esophagus allows your healthcare provider to both diagnose and treat you at the same time: esophageal webs look like smooth, thin, gray patches with normal-looking surrounding tissue and a center or side opening, commonly located on the front wall of the esophagus.
Treatment Options for Plummer-Vinson Syndrome
Plummer-Vinson syndrome is managed medically with iron supplements. This is because the condition usually comes with iron deficiency, which can lead to anemia – a state where your blood has fewer red blood cells than normal. Doctors will also rule out any hidden or visible blood loss, any diseases that might be causing the problem, or conditions that make it hard for your body to absorb iron.
Iron supplements are crucial for correcting anemia and fixing most of the symptoms related to iron deficiency. But, once the anemia is dealt with, the continued use of iron supplements is often unnecessary. You usually need between 150 and 200 mg of elemental iron to fix iron deficiency anemia.
Many patients find that their difficulty swallowing (known as dysphagia) gets better with just iron supplements. However, for those with advanced disease, iron alone may not be sufficient. These cases typically need to be managed with an endoscopic dilation procedure, which is a treatment that involves widening a narrow part of your esophagus (the pipe that connects your mouth to your stomach).
It’s important to find out what’s causing the iron deficiency, as it might need special treatment. An example is celiac disease, which is a condition where your immune system reacts to gluten, a type of protein found in certain foods, and damages your intestines. Apart from using iron supplements, a change in diet might be enough for patients with mild symptoms.
However, people with severe and long-standing dysphagia usually require mechanical dilation, a procedure to widen the esophagus. This is often performed using endoscopic balloon dilatation or Savary-Gilliard dilators. These methods involve rupturing the webbing in the esophagus, which can often be achieved simply by inserting the endoscope. In some cases, a tapered dilating tool known as a bougie may be required, which can be quite effective. A study showed that this condition can be prevented with just one session of endoscopic dilation. Needle-knife electro-incision is another method that has been suggested as an alternative to dilation.
Patients should be advised to eat slowly and chew thoroughly. Solid food should be prepared in small pieces, especially meats. Surgery is rarely needed and is only recommended for those whose webs are not manageable with dilation or who have a Zenker diverticulum – a small pouch that develops at the back of your throat, which can cause difficulty swallowing.
What else can Plummer-Vinson Syndrome be?
Plummer-Vinson syndrome can cause difficulty swallowing, but there are other more common conditions that can display the same symptom. These include:
- Tracheoesophageal fistula in newborns
- Injuries to the esophagus from blunt or penetrating trauma
- Acid reflux disease, also known as GERD
- Vascular rings and diverticula
- Mobility conditions such as scleroderma, achalasia, and spams in the esophagus
- Benign and malignant tumors in the esophagus
Even if there are symptoms such as iron deficiency anemia or esophageal webs, they should not directly lead to a diagnosis of Plummer-Vinson syndrome. Other conditions with similar symptoms should also be considered:
- Heterotopic gastric mucosa with stricture
- Stricture caused by pills
- Hypopharyngeal bar
- Inflammatory conditions that create webs, such as chronic graft versus host disease, and blistering skin diseases
What to expect with Plummer-Vinson Syndrome
People with Plummer-Vinson syndrome generally have good outcomes. Most people with symptoms only need a procedure called esophagogastroduodenoscopy, where a small tube is inserted into the esophagus to examine it, along with a process called dilation, where the esophagus is gently expanded. This, coupled with iron replacement therapy, usually provides complete relief of symptoms.
However, patients with this syndrome have a higher risk of developing a certain type of cancer known as squamous cell carcinoma. This usually develops in the part of the throat (hypopharynx) or the upper esophagus. It’s believed that this increased risk could be due to long-term iron deficiency, which may cause permanent changes to the lining of the esophagus and lead to cancer.
Possible Complications When Diagnosed with Plummer-Vinson Syndrome
If esophageal webs (threads or layers of tissue that can block the food pipe) are not treated, they may cause difficulty in swallowing solid food, complete inability to swallow, and a type of lung infection called aspiration pneumonia.
If patients lacking iron are not given iron supplements, they may suffer from symptoms of anemia such as feeling very tired, having a general feeling of discomfort or unease, having shortness of breath, or severe chest pain.
There’s also a chance that patients could develop squamous cell cancer in the section of the food pipe closest to the mouth, although we’re not certain how big this risk is.
Finally, treating the esophageal web with Savary dilatations or balloon dilatations, procedures which use special tools to widen the food pipe, could involve a small risk of tearing the food pipe.
Potential Risks:
- Difficulty in swallowing solid food
- Absolute inability to swallow
- Aspiration pneumonia(a type of lung infection)
- Symptoms of anemia without iron supplements
- Possibility of squamous cell cancer in the esophagus
- Risk of tearing the food pipe during treatment
Preventing Plummer-Vinson Syndrome
Since this health issue is uncommon and doctors are unsure why it happens, it’s not possible to prevent it completely. However, it’s important for patients to make changes to their diet and eating habits as part of their treatment. Additionally, patients should be made aware that there may be a link between this condition and cancers of the esophagus and the area just below the throat, known as the hypopharynx. This is why follow-up care is crucial.
