Diagnosis
The Journey to a CSID Diagnosis
It is easy for a doctor to initially miss or delay a diagnosis of Congenital Sucrase-Isomaltase Deficiency (CSID), especially if the patient has mild, nonspecific symptoms.
CSID is largely a clinical diagnosis.
In This Section
There is an expression in diagnostic medicine that when you hear hoofbeats, look for horses not zebras. What that means to a doctor is when one sees a cluster of symptoms, one looks first for a more likely diagnosis before looking for a less common one. That is why a correct diagnosis of CSID may be delayed, while the doctor runs a number of tests to rule out other more common causes of severe, chronic diarrhea and other gastrointestinal (GI) symptoms.
Most individuals who have CSID begin their diagnostic journey in the office of their pediatrician or primary care physician. Typically, these doctors will suspect the diagnosis is one of several more common conditions that cause diarrhea. These can include the catch-all diagnosis, toddler’s diarrhea, which is the name for chronic, nonspecific diarrhea. Other common diagnoses include irritable bowel syndrome, a condition possibly related to intestinal inflammation that can cause either chronic diarrhea or constipation; the presence of intestinal parasites (organisms that can infect the intestines); or other intestinal infections. When treatments, such as antibiotics, for these more common conditions do not relieve the symptoms, doctors often will refer the patient to a gastroenterologist, a physician who specializes in ailments of the digestive system.
The gastroenterologist will usually begin with a routine analysis of the patient’s well-being, including a physical examination, history of medical conditions, symptoms or complaints, family history, and dietary history. The physician may order a series of tests to determine the exact diagnosis.
Diagnostic Tools to Assess Sucrase Enzyme Activity
While no test on the market today is 100% accurate, and current tests, including genetic testing, cannot rule out secondary sucrase deficiency, several options are available to help assess the likelihood of a CSID diagnosis.
Test
Tests and Access for Physicians
Access for Physicians
Commonwealth Labs, 1-888-258-5966
Metabolic Solutions, 1-603-598-6960