Gastro: Peutz-Jeghers Syndrome: Free MSRA Podcast

⚕️FREE MSRA PODCAST –Peutz-Jeghers Syndrome🎧 A clear, high-yield breakdown of this rare genetic condition with GIpolyps and pigmentation – perfect forexam prep and real-life clinical scenarios. 🧠Key Learning Points📌Definition• Peutz-JeghersSyndrome (PJS) is a rare, autosomal dominant inherited disorder.• It ischaracterised by hamartomatous polyps in the gastrointestinal tract anddistinctive mucocutaneous pigmentation (e.g. lips, mouth, hands, feet). 📌Causes & Genetics• Caused bymutations in the STK11 (also known as LKB1)gene.• This generegulates cell growth – when faulty, it leads to polyp formation and increasedcancer risk. 🧠Mnemonic:STK11 = “StopThe growth of Kancers” (STK) – helps recall tumour suppressor function.• Inheritancepattern is autosomal dominant: – 50% chance ofinheritance if one parent is affected. – One copy of themutation is enough to cause the syndrome. 📌Pathophysiology• STK11 mutationdisrupts normal cell regulation → overgrowth of disorganised but benign tissue(hamartomatous polyps).• Polyps formanywhere in the GI tract, most commonly in the small intestine.• These polyps cancause mechanical issues (obstruction, intussusception), bleeding, andcontribute to cancer development over time. 📌Symptoms• Abdominal pain –often due to bowel obstruction or intussusception• Gastrointestinalbleeding – may present as anaemia or melaena• Mucocutaneous pigmentation – dark spots on: – Lips – Buccal mucosa – Hands and feet• Polyp-relatedsymptoms (pain, bleeding, obstruction) 📌DifferentialDiagnosis• Familialadenomatous polyposis (FAP)• Juvenile polyposissyndrome• Hereditary mixedpolyposis syndrome• Cowden syndrome 📌Epidemiology• Rare disorder:estimated incidence ranges from 1 in 25,000 to 1in 300,000• Equal incidenceacross sexes• Often diagnosed inchildhood or adolescence due to pigmentation or early-onset GI symptoms 📌Diagnosis• Clinical features: – Mucocutaneouspigmentation – Multiple GIpolyps – Positive familyhistory• Definitive test: – Genetic testing for STK11 mutation• Imaging & endoscopy: – Upper GIendoscopy and colonoscopy – Capsule endoscopyor enteroscopy may be used to evaluate the small bowel 📌ManagementSurveillance• Lifelong endoscopic surveillance (upper and lower) • Start in childhood/adolescence • Regular imaging and tumour markers based on cancer risk profilePolyp Management• Endoscopic removal of large or symptomatic polyps • Surgical resection if obstruction or complications ariseCancer Screening & Risk Reduction• Screen for GI cancers: bowel, pancreas, stomach • Also screen for breast, ovarian, cervical, and testicular cancer • Consider early referral to a genetic specialist for family counselling 📌Complications• Cancer – ~50% lifetime risk of GI malignanciesby age 60• Intussusceptionand bowel obstruction• Chronic GIbleeding → iron-deficiency anaemia• Psychologicalburden from surveillance and cancer risk 📌Prognosis• Highly dependent on regular surveillance andearly intervention• With proactive care, outcomes are much improved• Without monitoring, risk of serious complications including malignancy is significantlyhigher 📎More MSRA Resources for Peutz-Jeghers Syndrome📝 Revision Notes:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-flashcards-2/💬 Accordion Q&A Notes:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-accordion-qa-notes-2/🚀 Rapid Quiz:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-rapid-quiz-2/🎓 Full Course:https://www.passthemsra.com/courses/gastroenterology-for-the-msra/ Hashtags #MSRA #MSRARevision#PeutzJeghersSyndrome #STK11 #MSRAFlashcards #GastroMSRA #HamartomatousPolyps#CancerSurveillance #RareDiseases #NICEGuidelines #MSRAExam #MSRARevisionWebsite