Dear CRIBBS members,
I want to express my sincere appreciation to all those who have sent me a card, email or picture this holiday season. I truly appreciate each of you that participate in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS). It has been a wonderful year and I want to update you on our combined effort. We have reached our goal of enrolling 550 individuals in CRIBBS by the end of 2019. We have members from 39 different countries, representing the majority of United States and its territories, as well as Canada and its provinces. We are blessed by the participation of individuals from every continent except Antarctica. Participants represent all races and many ethnic groups. This diversity is very important as we try to understand BBS and how BBS affects your life.
I am pleased to inform you that we continue to work with other academic centers, government organizations and private industry to move forward efforts to make a difference and bring light to BBS. Here at the Marshfield Clinic Center of Excellence for BBS we are excited about the impact of setmelanotide in helping individuals with BBS lose weight and improve their quality of life. We are equally excited to work with colleagues that are developing future therapies that will be designed to target specific health issues and disorders in BBS. This is what “precision medicine” really is designed to do.
We must understand patterns to make precision medicine a reality. We are currently analyzing thousands of height and weight measurements from hundreds of people with BBS to see if the genetics of BBS predicts weight problems. Your willingness to contribute your medical records and your time make this effort possible. The manuscript will be submitted for publication in early 2020 and I will alert you to the findings as soon as the accepting medical journal permits.
Through your contributions this year, we have identified two new genes that can cause BBS. This is very important because it helps genetic labs “broaden the net that they cast” as they look for genetic confirmation of the diagnosis. We are examining a unique variant in one BBS gene that is very prevalent in Southeast Asia and the United States. I promise to let you know more about this soon.
Recently there were several questions on Facebook about gastrointestinal problems in BBS. It is very important to know that gastrointestinal problems are more common in BBS compared to the general population. I want to share with you information from CRIBBS that may be helpful as you work with your local providers. Here is an overview of our findings:
Hirschsprung’s disease: A condition characterized by the inability of the intestines to move stool forward. This disease is usually identified in infancy and results from a lack of ganglion cells (a type of nerve cell) in the colon. Hirschsprung’s was found in 2.8% of CRIBBS participants. In the general population, it occurs in 0.02% of people.
Ulcerative colitis and Crohn’s disease: These are two forms of inflammatory bowel disease characterized by chronic abdominal pain and blood in the stool. The conditions are identified in 1.1% of CRIBBS participants. Most affected individuals in CRIBBS have ulcerative colitis. The prevalence of ulcerative colitis in the general population is 70-150 cases per 100,000 (about 0.07 to 0.15% of the general population).
Celiac disease: An autoimmune disease characterized by gastrointestinal symptoms provoked by eating foods containing gluten. One report published several years ago suggested that celiac disease was associated with BBS. In CRIBBS, 1.5% of participants (8 in 540) have a diagnosis of this condition. In the general population celiac disease occurs in about 0.8% of the general population (1 in 133)
Cholelithiasis (gall bladder stones): Reported in 6% of the CRIBBS participants. Most of those individuals required the gall bladder to be removed (cholecystectomy).
Hepatic fibrosis: Scarring of the liver, often due to obesity in BBS, is reported in 19.4% of participants. Our team must confirm the accuracy of this information by careful review of medical records. Thankfully, only one person in CRIBBS has required a liver transplant.
Anatomic abnormalities of the GI tract: Many individuals with BBS have a “bifid epiglottis” which refers to the flap of tissue that prevents food from going into the lungs. Laryngeal and esophageal webs are present in some individuals in CRIBBS but the true prevalence is unknown. Atresia (failure to form a normal segment of bowel) identified in some of CRIBBS participants required surgical repair in infancy. We reported previously the increased incidence of the abdominal and thoracic organs being in the wrong location (heterotaxy and situs inversus). Heterotaxia or situs inversus were found in 1.8% of the CRIBBS participants compared to 0.01% general population. Lack of an anal opening or abnormal placement of the anus (imperforate anus, anal atresia or anal displacement outside the sphincter muscles) was present in three individuals in CRIBBS. Anorectal abnormalities only occur in 1 in 5,000 live births in the general population.
Irritable bowel syndrome (IBS): Chronic abdominal pain with symptoms of cramping, bloating, gas, diarrhea and/or constipation. This is reported in 3.3% of CRIBBS participants. Irritable bowel syndrome is present in 10-15% of the general population. It is important to note that IBS in CRIBBS participants is far less common than in the general population. One take home point is that chronic abdominal pain in BBS should be carefully investigated and not labelled “irritable bowel syndrome” until other causes are ruled out.
As always I want to express my most sincere appreciation to all those that support the Clinical Registry Investigating BBS (CRIBBS). If you have been lost to follow up or have never joined CRIBBS please contact us at www.bbs-registry.org or at 877-594-3499. Donations to support our efforts can be made at www.bbs-registry.org/we-need-a-helping-hand. If you are interested in our clinical programs for the care of individuals with BBS and would like more information about coming to Marshfield Clinic, please contact Sonia Suda at suda.sonia@marshfieldclinic.org or call 715-389-3235.
Wishing you a Happy New Year,
Dr Bob Haws and the members of the Center of Excellence for BBS
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