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Small Bowel Bacterial Overgrowth

By Asif M. Qadri, MD

“Doc, I have this pain I cannot seem to shake. It is episodic, but when it comes on…well…watch out?”

As a gastroenterologist, this is a common description of pain amongst our patients, and such symptoms have a wide range of possible underlying causes, from inflammatory bowel disease (IBD) to gallbladder attacks, irritable bowel syndrome to even a kidney stone. But there is also a little-known inherited blood disorder that may masquerade as such.

Hereditary Angioedema (HAE) is a rarely diagnosed autosomal dominant blood disorder affecting perhaps one person in 50,000. When exposed and expressed in the right individual, it can present itself sporadically as acute attacks of inflammation of the extremities, face, gastrointestinal (GI) tract, genitalia and upper and lower respiratory tracts. When an afflicted individual presents with HAE, he or she may have swelling within the GI tract that can lead to colicky pain and spasms and even feel like an obstruction.

Triggering factors for HAE are many and include trauma, stress, acute illness and medications, to name a few. The cause of HAE is a mutation in the C1 inhibitor gene on chromosome 11. The low levels of C1 in the plasma lead to increased release of bradykinin, which in turn increase vascular permeability and pain. There are three subclasses of HAE ranging from one to three with type 1 being the most common.

The majority of patients present when they hit puberty, but sometimes this can occur prior to this life-changing time. It affects males and females equally. There is a higher incidence amongst family members who have the disease, but it can occur sporadically as well.

The challenge of HAE is diagnosing it. Some have been told that they have an allergy while others have been told it is “all in their head” while still others have undergone exploratory surgery because of the pain. The best way to make the diagnosis is to have bloodwork done during an episode whereby lab samples can be drawn to help evaluate what is going on. We look at serum complement factor 4, the C1 inhibitor antigenic protein and the C1 inhibitor functional level.

In regards to treatment, this is based on the severity and frequency of HAE symptoms. Those who feel the effects once or twice a month should be on some sort of long-term prevention, which is considered prophylaxis and therapy. Options include C1 inhibitors (Berinert, Cinryze, Cetor-n), bradykinin receptor antagonist (Firazyr), kallikrein inhibitor (Kalbitor) and recombinant C1 inhibitor replacement therapy (Rhucin). The prophylaxis option allows patients to self-administer giving them control over their disease.

But, you might ask, what happens if I go into the emergency room suffering from an acute attack? It depends on whether you have been diagnosed with HAE. Again, possible diagnoses are wide open. If misdiagnosed, you may be given steroids, which would likely not help at all. Controlling the symptoms of pain have been effective along with controlling spasms, especially in those with intestinal symptoms.

If all else fails and you are aware of the HAE diagnosis, fresh frozen plasma can help if it contains C1 inhibitor. Ecallantide (Kalbitor) can also be used for acute attacks. Note, though, that it may take up to four hours to work.

Cost of the medication has been a huge issue with managed-care providers as the continuous treatment in a prophylaxis treatment, such as that for heart disease or high cholesterol, would total around $4,500 a year. Because most insurance companies would rather not pay for such an expensive medication on a continuous basis, most patients will present with an acute episode, which will cost them around $21,300 a year.

Understandably, I see the cost of the medication being an issue, but it makes sense to me to make the diagnosis and then do all you can to ensure the patient does not have to make unwarranted emergency-room visits. Treatments in the ER add up to unhappy patients, unhappy parents and huge bills.

Hereditary Angioedema is a real disease, and we as gastroenterologists have to continue to keep this on our radar. Take a step outside the box if someone presents with the usual pain and suffering but labs and imaging are normal and usual treatments are ineffective. Just maybe we may have someone with HAE.

We would be delighted to discuss this or any of your gastroenterology and liver concerns at Athens Digestive Healthcare Associates, which was recently voted the No. 2 GI practice in Georgia by Healthgrades.

Dr. Qadri attended the School of Medicine at American University of the Caribbean. He is Board Certified in Gastroenterology and is part of Athens Digestive Healthcare Associates: 1360 Caduceus Way, Bldg. 300, STE 101, Watkinsville, GA 30677. For more information and to schedule an appointment, please call 706-850-4985.
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