Chronic diarrhea with infant onset is common in CTX

Chronic diarrhea is thought to occur in about half of all CTX cases¹

In a systematic review of selected case series, the prevalence of chronic diarrhea in patients with CTX was 48%.¹ The cause of diarrhea in CTX is not clear.² It is thought that elevated levels of bile alcohols may influence gut motility, affect fluid and electrolyte transport, or affect bacterial equilibrium.²

For many patients, diarrhea is the earliest symptom^3,4

Diarrhea is usually described as being of childhood or infant onset, but may persist into adulthood in undiagnosed patients.^1-3 Patients and their caregivers often seek specialist advice for chronic diarrhea prior to CTX diagnosis.^1,2 However, there are many potential causes of chronic diarrhea in children and infants.⁵ Because of its nonspecific nature, infant-onset chronic diarrhea may not raise suspicion of CTX in the absence of other manifestations.³