Progressive GI Symptoms: Could it be Scleroderma?
Functional gastrointestinal (GI) disorders are extremely common. However, on rare occasions, people thought to have a functional GI disorder can develop progressive GI symptoms from another underlying condition. This is truly rare, but when symptoms do not respond as expected, or if symptoms get worse and worse despite a clinician's best efforts, it may be worth considering other things.
Scleroderma is one of many different conditions that can affect the GI tract. Most people with progressive GI symptoms do not have scleroderma, but some individuals with early scleroderma may have typical symptoms of irritable bowel syndrome (IBS), like bloating, constipation, or diarrhea, and other GI conditions.
Note that other symptoms are common in scleroderma, which are not typical in GI conditions. These include painful and swollen joints, skin tightening, and reduced blood flow to fingers, toes, and rarely to the nose, ears, and lips.
The sections that follow discuss things we know about scleroderma, and how scleroderma can affect the digestive tract. As you read it, keep in mind that scleroderma is very rare, so chances are that you or a loved one does not have this condition.
Causes of Scleroderma
Scleroderma literally means "thick skin." Individuals with scleroderma can develop thickening of their skin, on the outside of their body, but also in the tissues within their body. The condition is uncommon, affecting approximately 300,000 people in the population.
The cause of scleroderma remains unclear, but it is thought to be a problem with the immune system, in which collagen (a protein found in connective tissue) is deposited in unusually high amounts throughout the body. This process can affect the blood vessels, in particular, but can also disrupt the GI tract.
Although scleroderma is usually managed by a rheumatologist, it sometimes comes to the attention of gastroenterologists due to its strong impact on the bowels. Treatment of scleroderma can be complex and difficult, and typically involves potent therapies to depress the immune system, such as steroids, methotrexate, and other drugs.
Types of Scleroderma
Scleroderma is a progressive condition that presents in many different ways; it is not a "one size fits all" disorder. Rheumatologists divide scleroderma into different types, including localized disease (affecting certain areas of the body only) and systematic sclerosis (SSc).
SSc is a form of scleroderma that has skin and internal organ involvement, including the GI tract. Localized scleroderma does not affect internal organs.
However, GI involvement occurs in approximately 90-95% of patients with SSc and is the leading cause of morbidity and the third most common cause of mortality in SSc.
From here on in this article, scleroderma refers to SSc.
How Scleroderma (SSc) Affects the GI Tract
After the skin, the digestive system is the most commonly affected organ system in people with scleroderma. Most people with gut involvement experience symptoms that interfere with their day-to-day activities and quality of life.
The function of the gut is to push food and liquid down from the mouth to the large intestine (or colon), extract and absorb nutrients, and excrete the waste in the form of stool. It does this by well-orchestrated and rhythmic motions of the gut muscles (also known as peristalsis).
The primary events that cause trouble in the scleroderma gut are due to a decrease in the blood supply to the nerves, which are needed to stimulate the bowel. With decreased stimulation, there is progressive weakening of muscle strength and tone, resulting in slowed and discoordinated motion of the gut. Virtually every gut symptom in scleroderma is the result of weakening of the gut muscle.
The weakening starts in the esophagus (food tube) and stomach, and works its way down to the small and large intestine.
Approximately 20% of people with scleroderma develop secondary Sjögren's syndrome, a condition associated with very dry eyes and dry mouth. If you have progressive GI symptoms and find yourself with increasingly dry eyes and lacking saliva, then you should ask your doctor about Sjögren's syndrome and the possibility of underlying scleroderma.
When dry mouth occurs, it can cause difficulty swallowing, gum disease, or cavities. For people with symptoms of dry mouth, they should see a dentist at least every six months. In addition, sugar-free lozenges to keep the mouth moist and over-the-counter dry mouth products such as Biotene mouthwash and oral gel can also help for people with symptoms. Prescription medications such as Evoxac® and Salagen® may be advised.
Esophagus (Food Tube)
The esophagus transports food to the stomach by coordinated contractions of its muscular lining. This process is automatic and people are usually not aware of it, except when they swallow something too large, try to eat too quickly, or drink very hot or very cold liquids. They often feel the movement of the food or drink down the esophagus and into the stomach, which may be an uncomfortable sensation.
The esophagus is the area where most people with SSc sclerodrema have problems, and fortunately, it has been the area where the most advances have been made in therapy. The most common symptom is heartburn (the sensation of burning behind the breast bone), which is due to irritation of the esophagus by acid regurgitating (backing up or refluxing up the esophagus) from the stomach.
Repeated or persistent heartburn is a symptom of gastroesophageal reflux disease, or GERD. Other symptoms may include dry cough at night, recurrent chest pain behind the breast bone, persistent hoarse voice, asthma (wheezing and shortness of breath), difficulty swallowing, mouth ulcers, and acid taste in the mouth.
GERD symptoms are remarkably common, but scleroderma is not. If you have GERD symptoms, it is very unlikely that you also have scleroderma.
However, if you have GERD symptoms, progressive difficulty with swallowing, and other GI symptoms, then you may have something more than a typical functional GI disorder or typical GERD. Be sure to talk to your doctor if these things happen.
Stomach symptoms in scleroderma are due to slow emptying of food into the small intestine. The retention of food in the stomach leads to the sensation of nausea, vomiting, fullness, or bloating (also known as gastroparesis).
In some people with scleroderma, the stomach can also have dilated blood vessels (telangiectasia) lining the walls of the stomach. This is known as "watermelon stomach" due to its appearance on endoscopy.
Slow and intermittent or rapid bleeding from these dilated blood vessels can cause low red blood cell count (anemia), which can cause the feeling of fatigue.
If your doctor finds that you have anemia, then the diagnosis of a functional GI disorder should always be questioned until the anemia is otherwise explained, especially if you are found to have something called "iron deficiency anemia."
Scleroderma is one of many different conditions that can cause iron deficiency anemia. Other, more common, conditions include erosions from GERD, peptic ulcer disease of the stomach, and celiac sprue, among many others.
Small Intestine (Bowel)
The small intestine is the place where we gain most of the nutrition from our food. The food is pushed from the stomach into the small intestine by the rhythmic motions of the gut. Once in the small intestine, the nutrients and vitamins are extracted from the food and the waste is propelled into the large intestine and excreted as stool.
The symptoms, because of bowel involvement, are due to lack of muscle tone, leading to stagnation of food in the small and large intestines.
When scleroderma affects the small intestine, the symptoms are similar to gastroparesis (bloating, nausea, and vomiting), but abdominal pain may also occur.
In addition, due to the stagnation of food, the bacteria, which normally reside in small quantities in the small intestine, can multiply in the food, causing small intestinal bacterial overgrowth, also called "SIBO."
These bacteria compete with nutrients and vitamins causing vitamin deficiencies, weight loss, and the inability to gain weight.
There may also be symptoms of diarrhea with foul smelling stools, which may be oily or hard to flush. Some people describe their stools like "oil and water," in which beads of oil float on the surface of the water; this is not typical of functional GI disorders.
Another small intestinal symptom that occurs in scleroderma is pseudo- (false) obstruction. In this condition, the bowel is not physically blocked as in true bowel obstruction but has just "had enough" and stops working. This is caused by weakening of the gut muscle. The individual experiences belly pain, distension, vomiting, and the inability to "pass gas."
Large Intestine (Bowel/Colon)
The main function of the large intestine is to reabsorb water and salts that have been secreted by the rest of the gut. This helps the formation of stools and helps to move waste along.
In scleroderma, there is a weakening of the gut muscles and impaired motility. This can lead to constipation.
Constipation means different things to different people. For many people, it simply means infrequent stools. Medically speaking, constipation is usually defined as fewer than three bowel movements per week.
Severe constipation is defined as less than one bowel movement per week. This is usually associated with pain and the feeling of incomplete emptying of the bowel. People may also describe severe straining with defecation and a sense of fullness even after trying to move their bowels.
In scleroderma, some people develop so-called "wide mouth diverticula," or large pouches, along the lining of their colon. These do not ordinarily cause any symptoms. However, on rare occasions, the stool can get impacted in these pouches, which can lead to inflammation of the diverticula, called diverticulitis. This is similar to, but not exactly the same as, the common diverticulosis that you often hear about.
Diverticulitis usually presents with belly pain and fever. People can also get diarrhea due to impacted stool.
Bowel incontinence (symptom of accidentally soiling the underwear before being able to make it to a bathroom) occurs in up to a third of people with scleroderma. This is due to the weakening of the rectal muscle and poor control over the rectal sphincter.
Bowel incontinence can occur for a wide variety of reasons, and by no means does it indicate scleroderma alone. But if there is progressive or increasingly common incontinence, coupled with worsening abdominal symptoms, dry eyes, dry mouth, or trouble swallowing, then you should ask your doctor about whether the incontinence could be a sign of scleroderma.
When incontinence occurs from scleroderma, biofeedback therapy may be helpful by improving voluntary squeezing of the rectal muscle. Major scleroderma centers offer classes to teach people this technique. Surgery by an experienced surgeon might also be helpful in certain cases. Preliminary studies have shown promise of sacral nerve stimulation (nerves that control rectal tone) in decreasing episodes of bowel incontinence, both in people with scleroderma, and even in those with incontinence without scleroderma.
In summary, SSc scleroderma is a very rare disorder that can frequently affect the gut. When early in its course, some people with scleroderma can be misdiagnosed as having a functional GI disorder, such as IBS, functional constipation, or functional bloating, among other conditions.
Although it is very rare for patients to be misdiagnosed like this, it is worth keeping scleroderma in mind if GI symptoms are progressive, are associated with unusually dry eyes, dry mouth, or trouble swallowing, and have not responded to usual therapies by your doctor.
Other symptoms are common in scleroderma, including painful and swollen joints, skin tightening, and Raynaud’s phenomenon (reduced blood flow to fingers, toes, and rarely to the nose, ears, and lips).
GI symptoms of scleroderma can be distressing and can cause impairment of a person's quality of life as well as other complications. An experienced rheumatologist and laboratory tests can make a definitive diagnosis of SSc scleroderma. Appropriate treatments are often effective.
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