GI EMERGENCIES Acute Abdominal Pain

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Eugene Anderson
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2 GI EMERGENCIES Acute Abdominal Pain Marcia Cruz-Correa, MD, PhD, AGAF. FASGE Associate Professor of Medicine, Biochemistry, Surgery Director Translational Research University of Puerto Rico Comprehensive Cancer Center

3 CASE 18 y/o male patient presents with acute onset abdominal pain localized around the umbilical area Pain is 10/10 in intensity, associated with nausea, and had a 1 hour duration Family history is significant for history of pancreatic cancer (maternal grandfather) PE HR 115, BP 130/90, RR 22 Otherwise unremarkable exam

4 CT SCAN

5 SURGERY

6 P A T H O L O G Y

7 Most Common Hamartomatous Syndromes Juvenile Polyposis Peutz-Jeghers Cowden

1%) Familial adenomatous polyposis (FAP, AFAP and MAP) (1%)

8 Causes of Hereditary Susceptibility to CRC Sporadic (65% 85%) Familial (15% 20%) Hamartomatous polyposis (<0.1%) Familial adenomatous polyposis (FAP, AFAP and MAP) (1%) Hereditary nonpolyposis colorectal cancer (HNPCC, including Lynch) ( 3%)

9 Hamartomatous Polyposis Syndromes Juvenile Polyposis Peutz- Jeghers Cowden Syndrome Incidence 1/100,000 1/200,000 1/200,000 Gene MADH(SMAD4) BMPR1A STK11 (LKB1) PTEN Inheritance Autosomal Dominant Autosomal Dominant Autosomal Dominant Polyps Location (1) Colon (2) Small Bowel (1) Small Intestine (2) Stomach (1) Small Intestine (2) Stomach (3) Colon (3) Colon

10 Skin Manifestations of Hamartomatous Polyposis Syndromes PJS Cowden Cowden Cowden Mucosal pigmentation Trichilemmomas Skin papillomas Acral Keratosis

11 Peutz Jeghers Syndrome Hyperpigmentation

12 Cancer Lifetime Risk Hamartomatous Polyposis Syndromes JPS PJS COWDEN Colorectal 68 40? Breast Small Int Gastric Pancreatic Ovarian Thyroid Endometrial Testes -- 5 Giardiello et al, Gastroenterology 2000; Hearle et al, Clin Can Res 2006

13 Peutz-Jeghers Syndrome Screening Recommendations Cancer Age to Begin Interval Diagnostic Test Colon yrs Colon/EGD Gastric/ Small Intestine yrs SBFT/Enteroscopy Capsule Endo Pancreas EUS, Abd US?? Breast MRI/US Mamography Uterus 20 1 Transvaginal US Endometrial Biopsy Cervix 20 1 Pap Smear Testicular 10 1 PE/Ultrasound Beggs et al, Gut 2010; McGarrity et al. GeneTest 2003

14 Juvenile Polyposis Syndrome Screening Recommendations Cancer Age to Begin Interval Diagnostic Test Colon 15 2 yrs Colon Gastric/S mall Intestine 15 2 yrs EGD & SBFT/Enteroscop y Capsule Endo Boardman 2002, Burt 2002, Dunlop 2002

16 Cowden Screening Recommendations Cancer Age to Begin Interval Diagnostic Test Colon 15 2 yrs Colon Gastric/Small Intestine Breast yrs EGD & SBFT Capsule Endo Monthly Annual Self Exam Mamography Thyroid Adolescence 1 yr Clinical exam & Ultrasound Boardman 2002, Burt 2002, Dunlop 2002

18 Capsule Endoscopy for PJS & JPS Increase diagnostic yield of CE vs. SBS 1 MR Enteroscopy similar to CE for detection of SB polyps 2 Double balloon enteroscopy is not recommended for routine surveillance 2 Gupta et al. AJR Brown et al. Endoscopy 2006 Costamagna et al, Gastroenterology 2002 Mata et al., GIE 2005

19 Genetic Counseling & Testing for Hereditary GI Cancer Syndromes

20 Objectives of Genetic Testing To identify the disease-causing germline mutation in an index person who has developed cancer To distinguish asymptomatic mutation carriers from non-mutation carriers within a given family

21 Guidelines for Genetic Testing: Who May Benefit? People with multiple primary cancers People with multiple family members affected by cancer of any type People with cancer at young age of onset First-degree relatives of known mutation positive individuals

22 American Society of Clinical Oncology Guidelines for Genetic Testing Personal or family history features suggestive of a genetic cancer susceptibility condition Test can be adequately interpreted Test results will aid in diagnosis or influence medical management of the patient and/or family JCO 2003;21:

23 Interpreting Genetic Testing Results Positive Identify deleterious mutation for the patient May test at-risk family members No-Mutation Detected Mutation(s) previously identified in the family No known mutation in the family Genetic Variant Uncertain Clinical Significance Need additional information from affected and unaffected family members Ethnic and racial differences

24 Caveats of Genetic Testing If a pedigree mutation is not identified No further genetic testing of at-risk individuals Relatives should undergo endoscopic screening If cancer-affected member is unavailable Testing of unaffected members provides positive or inconclusive results

Summary Hamartomatous polyposis syndromes have a significantly increased risk of gastric, small bowel and colorectal cancer Surveillance strategies need to be individualized

25 Summary Hamartomatous polyposis syndromes have a significantly increased risk of gastric, small bowel and colorectal cancer Surveillance strategies need to be individualized Early EGD/Colonoscopies Capsule endoscopy/mr enterography Breast, Pancreatic, Thyroid, GYN screening Genetic counseling & testing should be considered as part of medical management

Familial and Hereditary Colon Cancer

Familial and Hereditary Colon Cancer Aasma Shaukat, MD, MPH, FACG, FASGE, FACP GI Section Chief, Minneapolis VAMC Associate Professor, Division of Gastroenterology, Department of Medicine, University of