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Achalasia is a rare disease that affects only a small percentage of the population. This condition affects the function of the lower esophageal sphincter, making it difficult for food and liquid to pass through the digestive tract successfully.
What's in this Guide?
- What Is Achalasia?
- How Is Esophageal Function Abnormal in Achalasia?
- What Causes Achalasia?
- Who Does Achalasia Typically Affect?
- Diagnosis of Achalasia
- Achalasia and Genetics
- Long-Term Risks of Achalasia
- Achalasia Treatment Options
- The Prognosis for Achalasia
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.
Genetics is a quickly changing topic. Read More...
This can lead to regurgitation because food gets stuck. There is no specific cure to make it go away completely, but there are numerous treatment options to help manage the symptoms.
At YourDNA.com, we have some answers for questions our readers might have, including is achalasia deadly?
What Is Achalasia?
Achalasia is a serious condition that impacts how the esophagus functions. It is considered to be a progressive disease, meaning it gets worse over time.
This condition prevents the lower esophageal sphincter (LES) from opening up and relaxing. When the LES does not open up properly, food can get backed up within the esophagus, causing malnutrition and regurgitation.
There are three subtypes of achalasia 1:
- Classic or minimal contractility
- Simultaneous contractions
- High-pressure and simultaneous spasms
The different achalasia types are classified by what occurs with the esophagus when food and/or liquid is swallowed.
• Regurgitation of food
• Difficulty swallowing liquids and foods
• Chest pain, which is increased after eating
• Weight loss
• Lump in the throat
• Feeling of fullness
The most common symptom experienced among patients is the feeling of food getting stuck in their chest while they're eating. This condition is easiest to treat when it's diagnosed early on.
It's important to talk with your primary health provider if you have any of the above symptoms so they can start testing you for it. There are other conditions that have the same or similar symptoms as achalasia, which is why it's helpful to seek the diagnosis of a specialist for the most accurate diagnosis.
Difficulty swallowing and having the feeling that food is stuck are two big red flags and something you don't want to ignore.
How Is Esophageal Function Abnormal in Achalasia?
Achalasia affects the lower esophageal sphincter by preventing it from relaxing. The LES is a small ring muscle at the lowest end of the esophagus right before the stomach.
When it's able to relax, it opens up and allows food to pass into the stomach. With achalasia, the food gets stuck and ends up building up in the esophagus. This can lead to regurgitation because the food does not successfully make it through the digestive tract.
What Causes Achalasia?
Most cases of achalasia are sporadic, which means there's no family history of this disorder. Familial achalasia is when there are several members of one family 2 that have this disorder, but it represents less than one percent of all cases.
It is believed that familial esophageal achalasia is passed down in an autosomal recessive fashion. To be affected, an individual must have a mutation on both copies of the genes from each parent. You can be a carrier of achalasia without ever having symptoms of it.
So, is achalasia hereditary? It can be in some situations. When there are two carriers of achalasia, each child they have together has about a 25% chance of having it.
There is no conclusive evidence as to whether or not idiopathic achalasia is related to genetic markers. Familial achalasia is typically a rare occurrence and there are conflicting theories regarding how significant the etiologic factor is.
There have been studies performed to determine if an achalasia virus was real. It was determined that there was nothing to suggest achalasia was viral. Some also believe achalasia is a neurological disorder, but there is no concrete evidence to support this either.
Achalasia and lupus could both fall into the same autoimmune disease category but there is not enough evidence to support this theory either.
Who Does Achalasia Typically Affect?
This condition generally only affects adults who are between the ages of 25 and 60 3, but it's something that can affect individuals at any age. Achalasia affects males and females equally, except when the disease is inherited.
When it's passed down, it seems to affect males twice as often as females.
Diagnosis of Achalasia
There are several diagnostic tools that physicians use to diagnose achalasia. Typically the first thing they'll do is obtain a patient's medical history and perform a physical examination.
Other diagnostic methods are used too for a more concrete diagnosis. Achalasia can be diagnosed at any age, but it's rare to see it before adolescence. In most cases, the condition gets diagnosed between ages 25 and 60. Achalasia types of radiology include:
A chest x-ray uses electromagnetic radiation and produces images of the inside of the body. X-rays are helpful with diagnosing achalasia because they're able to detect any abnormal dilation of the esophagus.
Chest x-rays cannot diagnose achalasia alone, they must be used in combination of other diagnostic tools.
High-Resolution Esophageal Manometry
This type of diagnostic tool is used commonly in individuals who exhibit symptoms of achalasia. This method is effective because it's able to tell how well the esophagus functions by detecting any changes in pressure in the esophagus when the individual swallows.
During a high-resolution esophageal manometry, a doctor inserts a catheter through the nose or mouth and down to the esophagus. With the catheter inserted, you'll have to take small sips of water every 30 seconds and the sensors in the catheter will detect changes in pressure.
Upper endoscopies allow doctors to get a better view of the esophagus, stomach, the beginning of the small intestine, and the lower esophageal sphincter. During this procedure, doctors will be able to tell if there's any dilation, irritation, swelling, or if there's any kind of growth that would cause problems when swallowing foods and liquids.
During a barium esophagram, individuals are required to swallow liquid while an x-ray is taking place. Different positions, such as laying down, will be used to obtain the best results.
When someone drinks liquid barium, the esophagus becomes highlighted, making it easier to tell if there's any kind of muscle or nerve problem. If the test determines that the esophagus looks dilated, there's a strong chance the patient has achalasia.
Achalasia and Genetics
At this time, there are no genetic tests available to determine if you're a carrier of achalasia.
It's rare that achalasia is passed through family members. Even though familial achalasia is possible, there is currently no way to determine if your future children will develop it.
Long-Term Risks of Achalasia
Achalasia and cancer risk is something to keep in mind because those with this condition do have an increased risk of esophageal cancer.
There are two types of esophageal cancers: squamous cell and adenocarcinoma 5. There is no indication that achalasia patients have more of a risk of one type of cancer over the other.
Even though there is an increased risk of esophageal cancer among patients with achalasia, at this time there are no guidelines for screening for cancer.
Achalasia Treatment Options
There are numerous treatment options available for achalasia, but most of the options are centered around forcing the lower esophageal sphincter to open up so food and liquid can pass through it, making its way through the digestive tract.
With achalasia, diet is something to pay attention to. Individuals with the condition are not limited to what they can eat, but it can be helpful to choose foods that move through the esophagus without much effort and drinking water with each meal. There are some methods that individuals can use to help the food go down easier with achalasia.
• Chopping up the food
• Thickening fluids
Dietary approaches will be unique to each individual. Some methods might work for some, but not others. If you have questions about what you should and should not be eating, it's best to speak with your doctor.
Sometimes surgery is not necessary to reduce the symptoms of achalasia. Some non-surgical treatment methods include:
- Medications such as muscle relaxers
- Botox injected into the esophageal sphincter
- Pneumatic dilation - a balloon inserted into the esophageal sphincter to enlarge the opening
The surgical options for achalasia are typically for younger people that have this condition because other nonsurgical treatment options don't work as well for this age group. Achalasia surgery costs will differ, depending on the type performed.
On average though, the surgeries can cost upwards of $45,000, but should be covered under most health insurance plans. Achalasia surgery recovery time depends on the surgery but usually takes around two to three weeks.
Heller achalasia myotomy can be performed laparoscopically, making it minimally invasive, with only five small incisions in the abdomen 6. The purpose of this surgery is to cut the problematic tissue with tiny surgical instruments.
The surgeon will pass an endoscope down the esophagus to make sure the lower esophageal sphincter is now loose.
This type of surgery is beneficial because surgeons are able to perform an anti-reflux procedure to prevent any post-procedural reflux. Sometimes patients are required to stay overnight in the hospital after getting this.
Peroral Endoscopic Myotomy (POEM)
This type of achalasia surgery is performed using endoscopic technology, and it takes one to three hours to complete. A small camera is placed on the end of a long tube which gets inserted down the esophagus.
A tiny knife will be attached to the end of the tube and it's used to cut and loosen the muscles that cause the swallowing problems. The purpose of this procedure is to relieve tightness in the esophagus.
The fundoplication surgery can be performed laparoscopically, like the other surgical methods. During this procedure, a surgeon will wrap the top part of the stomach around the lower part of the stomach and sew it in place.
Fundoplication tightens the esophagus, preventing acid from the stomach from coming back up into it.
If achalasia is left untreated, the esophagus will eventually stop functioning properly because it will become enlarged. Individuals who do not treat their achalasia will have a higher chance of developing esophageal cancer.
The Prognosis for Achalasia
Achalasia life expectancy does not differ from those who do not have the condition 7. Individuals with achalasia generally have more health complications, but this does not shorten their lifespan.
The achalasia prognosis for patients is that they'll likely have to undergo different treatments and therapies to manage their symptoms.
Tips for Living With Achalasia
• Chew food well
• Stop smoking
• Drink plenty of fluids while eating
• Avoid eating foods that cause heartburn
• Eat smaller and more frequent meals
• Avoid overeating at night
• Prop your head up at night when sleeping
If left untreated, this condition can worsen over time. Some complications that can arise include acid reflux. Untreated achalasia can take away the ability to drink and eat normally, leading to malnutrition and weight loss.
For severe cases of achalasia, the doctor may suggest going on a liquid diet for a certain timeframe. If you're on a liquid diet already, you'll want to make sure you're getting enough nutrients, which is something that can be discussed with your doctor.
If you're losing a significant amount of weight, you should let your doctor know because you could be malnourished.
Diets should be closely monitored by the physician. If the doctor believes the patient is not getting enough nutrients and is becoming malnourished, they may suggest tube feeding, usually through the nose.
Right now, there are no cures available for achalasia. There are numerous treatment options available, however, to make living with this condition easier.
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Reflux Medical. 2014.
- Idiopathic achalasia
- Achalasia- Rare Disease Database.
NORD gratefully acknowledges the Martin Mueller IV Achalasia Awareness Foundation and Eric S. Hungness, MD, Associate Professor of Surgery, S.David Stulberg Research Professor, Northwestern Medicine and Feinberg School of Medicine, for assistance in the preparation of this report.
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C. Andrew Kistler, MD, PharmD. 13 October 2016.
- FAQs about Achalasia, Heller Myotomy, and POEM.
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Joel E Richter, MD, FACP, MACG. Department of Medicine, Temple University School of Medicine.