Fact sheet for MDs: GI Concerns in Adults with Williams Syndrome

Williams syndrome is a relatively rare multi‐system genetic syndrome caused by a chromosome 7q deletion. Each patient with GI concerns needs individualized evaluation based on their symptoms. This information sheet alerts providers about certain (potentially life‐threatening) conditions more common in Williams syndrome than comparably aged persons in the general population. It is not meant to set standards of care.

If a person with Williams syndrome presents with: ‐‐Abdominal pain ‐‐Constipation/Diarrhea ‐‐Changes in bowel habit ‐‐Involuntary weight loss ‐‐Fever with GI symptoms ‐‐Vomiting consider the diagnoses listed below:

DDX w/ acute symptoms DDX w/ chronic symptoms Misc considerations

• Diverticulitis • Celiac disease • Rectal Prolapse • GI Perforation • Irritable Bowel Syndrome • Hemorrhoids • Pancreatitis • Chronic Constipation • Somatic Pain • Diverticulitis (Somatization) • GERD • Vascular Insufficiency

The causes of GI symptoms in adults with Williams syndrome The causes of GI symptoms in adults with Williams syndrome mirror mirrorthose those seen seen in the in generalthe general population. population. However, However, the diagnoses the diagno listed- Since diverticulitis/bowel Since diverticulitis/bowel ses listedhere arehere more are commonmore common in Williams in Williams syndrome, syndrome, and you should and you rupture occurs in young rupture occurs in even shouldconsider consider them them even even though though the patient’s the patient’s age or symptomsage or symptoms are adults with WS, evaluation young adults with WS, are atypical.atypical. of new onset abdominal pain may needevaluation to include of new CBC, onset BearBear in mind, in mind, there there are are anecdotal anecdotal reports reports of of increased increased pain toler- ESR, &abdominal assessment pain of may bowel need to include CBC, ESR, & ancetolerance so the underlying so the underlying problem problem may be may more be moreprotracted protracted or severe or integrity (KUB or CT scan assessment of bowel thansevere the patient’s than the patient’sdemeanor demeanor suggests. suggests. Finally, Finally,the disorders the disorders listed with contrast) integrity (KUB or. CT scan abovelisted do NOTabove constitute do NOT constitute a complete a complete differential differential diagnosis diagnosis (DDX) (DDX) list. with contrast).

Many patients with Williams syndrome have high levels of anxiety. If treatment The pain they are feeling, and the atmosphere of a health care setting, requires surgery: An anesthesia consult with a can heighten this feeling of anxiety. cardiac anesthesiologist is Many patients with Williams syndrome have high levels of anxiety. strongly advised. Anesthesia has ForFor additionalThe additional pain theyreading reading are please feeling,please see: see: www.williams-syndrome.org and the atmosphere of a health care been associatedIf treatment with unexpected Partsch CJ, Siebert R, Caliebe A, et al. Sigmoid diverticulitis in patients with William-Beuren Syndrome: relativelywww.williamssetting high -,syndrome.orgprevalencecan heighten and high complication this feeling rate inof young anxiety. adults with the syndrome. Am JMed Genet A death requires for people surgery: with 2005;137:52-4. AnWilliams anesthesia syndrome consult with MatisoffPartsch CJ, AJ, Siebert Olivieri R, L,, Caliebe Schwartz A, etJM, al. DeutschSigmoid N. diverticulitis Risk assessment in patients and anesthetic with William management-Beuren Syndr of patientsome: with Williamsrelatively syndrome: high prevalence a comprehensive and high complication review. Paediatr rate Anaesth in young 2015;25:1207-15. adults with the syndrome. Am JMed a cardiac anesthesiologist is Genet A 2005;137:52-4.

strongly advised. MatisoffFor AJ, additional Olivieri L,, Schwartz reading JM, Deutschplease N. see: Risk assessment and anesthetic management of patients Anesthesia has been www.williams‐syndrome.org associated with unexpected Partsch CJ, Siebert R, Caliebe A, et al. Sigmoid diverticulitis in patients with William‐Beuren Syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. Am JMed death for people with Genet A 2005;137:52‐4. Williams syndrome. Matisoff AJ, Olivieri L,, Schwartz JM, Deutsch N. Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review. Paediatr Anaesth 2015;25:1207‐15.