Genetic Studies in Interstitial Cystitis

Interstitial cystitis (also called painful bladder syndrome, or chronic pelvic pain syndrome) is a common condition with no known cure. Twin studies and family accounts have suggested that the condition may be genetic and passed down (or inherited) from one generation to the next.

In this study, we are collecting genetic material and medical information from families in North America in an attempt to identify genetic factors that may cause Interstitial Cystitis. We are enrolling families and individuals with IC/PBS/CPPS and their family members (both family members with and without IC like symptoms).

To fully describe the phenotype of interstitial cystitis (IC)/painful bladder syndrome (PBS)/chronic pelvic pain syndrome (CPPS), in adults and children, and to correlate the phenotypic information to the genotypic findings utilizing linkage analysis and candidate gene studies. A North American cohort and a Bulgarian cohort will be recruited. Both individuals and families with IC/PBS/CPPS symptoms will be recruited to give a DNA (from saliva) and urine sample.

We are collecting patients throughout North America (including the United States and Canada)

• Interstitial Cystitis
• Painful Bladder Syndrome
• Chronic Pelvic Pain Syndrome

• Dimitrakov JD, Kaplan SA, Kroenke K, Jackson JL, Freeman MR. Management of chronic prostatitis/chronic pelvic pain syndrome: an evidence-based approach. Urology. 2006 May;67(5):881-8. Review. No abstract available.
• Dimitrakov JD. A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome. Urology. 2001 Aug;58(2):281.

Inclusion Criteria:

• Males and females of any age
• Urinary frequency - more than 1X/hour, and/or
• Dysuria, and/or
• Pelvic, suprapubic, or abdominal pain - for 3 months or longer
• Previously normal voiding pattern ( normal retrograde voiding cystourethrogram if done)
• Nocturia
• Normal urinary stream (by history)
• No evidence of active bacterial UTI (no pyuria & negative urinary culture for last 3 months)
• First degree relative of someone with above symptoms

Exclusion Criteria:

• Major structural/anatomical urinary tract abnormalities by ultrasound
• Underlying inborn conditions affecting the urinary tract
• Surgery/chemotherapy affected pelvic area
• Severe Constipation in children only