Gastrointestinal Disease in CGD M . E L I Z A B E T H M . Y O U N - PowerPoint PPT Presentation

Gastrointestinal Disease in CGD M . E L I Z A B E T H M . Y O U N G E R C R N P , P H . D A S S I S T A N T P R O F E S S O R , P E D I A T R I C S J O H N S H O P K I N S U N I V E R S I T Y S C H O O L O F M E D I C I N E B A L T I M O R E , M A R Y L A N D

Prevalence  Studies report some GI disease in 27-44% of people with CGD  Onset in x-linked disease by age 5

Possible Symptoms  Failure to thrive or falling off of the growth curve  Malaise and fatigue  Abdominal pain  Loose or frequent stools OR  Bloating associated with infrequent stools  Decreased appetite

Characteristics  Strictures (narrowing) in the intestines  Fistulas  Obstruction secondary to granulomas  Inflammatory process, not infectious  Decreased protein or albumin, measured in the blood  More lesions in lower colon (rectum and anus) but lesions are found throughout the GI tract

Diagnosis  Endoscopy (upper and lower) is the Gold STANDARD for diagnosis

“Take home” for parents  Be aware of the prevalence of GI disease associated with CGD  Don’t discount subtle signs:  Fatigue  Changes in bowel habits  Changes in appetite  Abdominal pain  Go with your parental instincts…if you think something is wrong, it probably is