How to Diagnose CSID


The diagnosis of sucrase-isomaltase deficiency can easily be missed, especially with the presentation of mild, non-specific symptoms. In most cases, the correct diagnosis is delayed while other causes of severe, chronic diarrhea are entertained.

 

A common misperception is that the symptoms are caused from an allergy or intolerance to cow's milk or soy protein. A change in formula or diet usually does lessen symptoms due to the switch in carbohydrate content to glucose polymers which rely more on glucoamylase activity for digestion. The decrease in symptoms adds to further postponement of proper diagnosis. Once infancy is past and a larger variety of foods are added to the diet, it is increasingly difficult to correctly identify sucrose as the causative agent for symptoms.

 

Allergic gastroenteropathy, cystic fibrosis, severe gastro-enteritis, lactose intolerance, glucose-galactose intolerance or other causes of intractable diarrhea are often considered in diagnosis. Mild steatorrhea is commonly used to support these diagnoses. (Facts and Comparisons, Jan 2000; Drug Facts and Comparisons).

 


Methods to Diagnose CSID

Method

Positive Result

False (+)

False (-)

 

Stool pH

 

pH < 6.0

 

Any carbohydrate malabsoption

 

Decreased colonic bacteria

 

 

Sucrose Breath
Test

 

< 20 ppm H2 over baseline

 

Diffuse villous injury

 

Decreased colonic bacteria, non-H2 producer

 

 

Small bowel Disaccharidase Measurements

 

> 2 SD below mean for sucrase activity +/- isomaltase activity with normal lactase activity and normal villous architecture

 

  Improper specimen handing.
Biopsy too proximal in duodenum.
   
  Sucraid Therapeutic Trial   Marked decrease in symptoms
( diarrhea, gas, bloating, cramps)
within one week
  Secondary sucrase deficiency  

Inadequate dose and improper administration

 

 

It may sometimes be clinically inappropriate, difficult or inconvenient to perform a small bowel biopsy or breath hydrogen test to make a definitive diagnosis of CSID. If the diagnosis is in doubt, it may be warranted to conduct a short therapeutic trial (e.g. one week) with Sucraid® to assess response in a patient suspected of sucrase deficiency.


The effects of Sucraid® have not been evaluated in patients with secondary (acquired) disaccharidase deficiencies.

 



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