Uncommon Gastrointestinal Issues

Rare GI Diseases You Should Know: From Achalasia to Whipple’s

What are Gastrointestinal Diseases?

Gastrointestinal (GI) disease is any disorder or condition that affects the digestive tract from the stomach, oesophagus, and intestines to the liver, pancreas, and gallbladder. These diseases can cause symptoms such as abdominal pain, bloating, vomiting, diarrhoea, nausea, and constipation, and can be structural or functional. Their general examples include irritable bowel syndrome (IBS), and gastroesophageal reflux disease (GERD). 

You may have heard of acid reflux, a common gastro-oesophageal disorder, or diarrhoea and constipation. These are extremely common, and many people suffer from these issues. Apart from these, there are some sporadic gastrointestinal disorders that you may not have heard of.   

Some Rare Gastrointestinal Diseases 

Here in the following section, we will discuss some of the rare GI disorders that may occur in some individuals who may be suffering from chronic disorders, like Crohn’s disease. 

Eosinophilic Enteropathy

Eosinophilic enteropathy occurs due to an excess production of eosinophils due to a an immune-mediated condition, strongly associated with food allergies, from different parts of the digestive tract. The exact cause of EE is still under investigation, but as per the latest studies, it is more prone to atopic individuals. 

Our immune system releases eosinophils as an immune response during any allergic reaction. Excess eosinophil release in the oesophagus can cause inflammation, polyps, ulcers, and tissue breakdown. Eosinophilic gastrointestinal disorders are chronic conditions that can be effectively managed with dietary elimination, medications such as proton pump inhibitors or corticosteroids, and regular monitoring.   

Hirschsprung’s Disease

This GI disorder affects your colon, which is also known as the large intestine. Hirschsprung’s disease occurs due to the absence of enteric ganglion cells in segments of the colon, leading to impaired local bowel motility and functional obstruction. 

Due to this, they face difficulties in passing stool, thereby suffering from constipation and bowel obstruction. It is a congenital, lifelong condition caused by the absence of ganglion cells in parts of the colon. Surgery removes the aganglionic segment but does not cure the underlying developmental defect; patients often have long-term bowel management issues and risk enterocolitis.  

Whipple Disease  

A rare bacterium, Tropheryma whipplei, infects the inner lining of the small intestine, which gives rise to Whipple disease. This bacterium influences the villi of the small intestine to form irregularly or abnormally, making these structures unable to absorb essential nutrients. 

It is still exactly unknown how this bacterium transmits into the small intestine. However, some studies suggest that it is widely present in soil or sewage/wastewater. Whipple disease can become life-threatening if left untreated for a prolonged period.   

Achalasia

It is also an extremely rare swallowing disorder that affects the oesophagus or digestive tract. Patients suffering from achalasia have food pipe muscles that do not contract properly, leading to difficulties in propelling food down to the stomach. 

Simultaneously, at the bottom of the oesophagus, ring muscles are present, which are known as the lower oesophageal sphincter muscle. Under this condition, these muscles become unable to relax and allow food to enter your stomach. This problem causes symptoms, such as heartburn, chest pain, regurgitation, and coughing.   

Cyclic Vomiting Syndrome (CVS)

This GI issue revolves around unexplained and repeated episodes of severe nausea and vomiting. The following episodes can last from a few hours to days, though the symptoms may not appear daily. 

Its exact origin or cause is still unknown and is under investigation. Symptoms can last for a lifetime, as there is no permanent cure; however, taking anti-nausea or anti-seizure medications can be helpful.   

Levator Syndrome

Levator ani syndrome is a rare pelvic floor muscle disorder characterised by chronic rectal or pelvic pain, which may affect bowel function. It exhibits recurrent or chronic pain or discomfort in the sacrum, rectum, and coccyx region.        

Mainly, it occurs due to intense spasms of the levator ani muscle, which supports the pelvic floor organs and controls bowel movement. 

These conditions are rare and may require immediate medical attention. If these are left untreated, then they can cause severe, life-threatening complications. Apart from these, GI issues can lead to extreme conditions, like cancer. 

Reader Information: This article is intended for general informational and educational purposes only. Gastrointestinal diseases vary widely in cause, severity, and presentation, and symptoms described here may not apply to every individual. Readers are advised to consult a qualified medical professional for accurate diagnosis, personalised treatment, or if they experience persistent or concerning symptoms.

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