I'm kicking off our "Rare Disease of the Month" series for 2014, where Steph and I bring awareness to 12 chronic illnesses that don't get much press but still can deeply affect those who live with them each day. I thought I'd start with a rare digestive illness, since that's my schtick, called Achalasia.
Snapshot: Achalasia is a rare condition that impacts about 300,000 Americans. It makes eating quite challenging as the muscles in the esophagus stop working properly due to a breakdown in the nerves responsible for moving food to the stomach. People with Achalasia are at risk for developing esophageal cancer and should be monitored by a gastroenterologist. There is no cure and treatments are limited but can be effective in keeping symptoms under control. Thus, there are significant impacts on the person's social and emotional life.
What is it?
Achalasia is a condition where the nerves in the esophagus break down for an unknown reason. The result is difficulty swallowing foods and liquids because the normal movement of the muscles of the esophagus (aka peristalsis) is disrupted. The muscles higher up the esophagus may not contract properly to push food down to the stomach or the gatekeeper to the stomach, something called the lower esophageal sphincter, fails to relax and stops food from entering the stomach. Over time, this backup of food and liquids can stretch out the bottom of the esophagus creating a space for them to accumulate. Not a good thing. People with Achalasia are at increased risk for esophageal cancer, so they require regular follow-up and monitoring.
How common is it?
Current estimates are that Achalasia affects about 1 in 100,000 people, or about 300,000 people in the United States. People are usually diagnosed as adults and it becomes more common with increased age. Men and women are affected equally. It's very rare to see Achalasia in children and adolescents, but it does happen.
What are the symptoms?
Most often people with Achalasia report that they have a hard time swallowing both solid food and liquids, and they feel like whatever they've eaten gets stuck in their throat or esophagus. Other symptoms include heartburn, chest pain, hiccups, and regurgitating swallowed food or liquids. People with Achalasia often lose weight because the food they eat never really makes it into their bodies for digestion, or they begin avoiding food because eating becomes unpleasant or painful. Symptoms start out slowly and gradually get worse as the nerves break down which means many people don't go to the doctor until their symptoms are pretty severe.
What about diagnosis and treatment?
Four tests are used to diagnose Achalasia: Upper endoscopy, barium swallow, chest x-ray, and esophageal manometry. An endoscopy is when a doctor passes a tube with a camera on the end to view structural changes in the esophagus, so if the bottom of the esophagus has stretched out he/she will be able to see this via the camera. In a barium swallow, the patient drinks a chalky substance and then x-rays are taken. The barium concoction shows outlines of the esophagus more clearly and any changes can be seen on the films. Esophageal manometry is a specialized test that measures the pressure in the esophagus and how this pressure changes as the muscles contract. Manometry can measure if the muscles are pushing as hard as they should be and if they're relaxing as much as they normally would.
There is no cure for Achalasia, but there are a few medications and procedures that can help manage symptoms. Some patients undergo surgery to correct damage to the esophagus. One procedure uses a balloon to stretch the lower esophageal sphincter so it allows food to once again pass into the stomach. Another strategy is to use botox injections to temporarily paralyze the nerve that tells the lower esophageal sphincter to relax.
What is the social and emotional impact?
Unfortunately there are only a few studies that look at this in Achalasia patients. My colleagues and I at Northwestern are working to change this. But here is what we know:
What is it?
Achalasia is a condition where the nerves in the esophagus break down for an unknown reason. The result is difficulty swallowing foods and liquids because the normal movement of the muscles of the esophagus (aka peristalsis) is disrupted. The muscles higher up the esophagus may not contract properly to push food down to the stomach or the gatekeeper to the stomach, something called the lower esophageal sphincter, fails to relax and stops food from entering the stomach. Over time, this backup of food and liquids can stretch out the bottom of the esophagus creating a space for them to accumulate. Not a good thing. People with Achalasia are at increased risk for esophageal cancer, so they require regular follow-up and monitoring.
How common is it?
Current estimates are that Achalasia affects about 1 in 100,000 people, or about 300,000 people in the United States. People are usually diagnosed as adults and it becomes more common with increased age. Men and women are affected equally. It's very rare to see Achalasia in children and adolescents, but it does happen.
What are the symptoms?
Most often people with Achalasia report that they have a hard time swallowing both solid food and liquids, and they feel like whatever they've eaten gets stuck in their throat or esophagus. Other symptoms include heartburn, chest pain, hiccups, and regurgitating swallowed food or liquids. People with Achalasia often lose weight because the food they eat never really makes it into their bodies for digestion, or they begin avoiding food because eating becomes unpleasant or painful. Symptoms start out slowly and gradually get worse as the nerves break down which means many people don't go to the doctor until their symptoms are pretty severe.
What about diagnosis and treatment?
Four tests are used to diagnose Achalasia: Upper endoscopy, barium swallow, chest x-ray, and esophageal manometry. An endoscopy is when a doctor passes a tube with a camera on the end to view structural changes in the esophagus, so if the bottom of the esophagus has stretched out he/she will be able to see this via the camera. In a barium swallow, the patient drinks a chalky substance and then x-rays are taken. The barium concoction shows outlines of the esophagus more clearly and any changes can be seen on the films. Esophageal manometry is a specialized test that measures the pressure in the esophagus and how this pressure changes as the muscles contract. Manometry can measure if the muscles are pushing as hard as they should be and if they're relaxing as much as they normally would.
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| Houston, we have a problem. |
What is the social and emotional impact?
Unfortunately there are only a few studies that look at this in Achalasia patients. My colleagues and I at Northwestern are working to change this. But here is what we know:
- Children and adolescents with Achalasia have considerably poorer quality of life when compared to kids with inflammatory bowel disease (Crohn's Disease, Ulcerative Colitis) and their healthy peers.
- Adults with Achalasia report significantly poorer mental well-being, reduced socialization, and greater impact on their physical functioning than people with Gastroesophageal Reflux Disease (GERD) and their healthy peers.
- 74% of adults report their disease limits their lifestyle including 37% reporting that Achalasia interferes with work, missing an average of 10.2 days in the last 6 months.
- Patients with Achalasia report significant concerns about the chronic nature of their disease, especially combined with limited treatment options and the risk of getting esophageal cancer.
Hope this was informative! Stay tuned for a new rare disease post each month.
Best,
Dr. T