Inborn Errors of Metabolism

Board Review 4/2/2013ADOLESCENT (part 2)Test QuestionTrue or False: My March Madness bracket was way off this yearTrueFalseUm, this is the south we only care about football

Eating disordersEtiologyAnorexia and bulemia are fairly rare conditions with a prevalence of 0.5-2%OnsetAnorexia: mid-adolescenceBulimia: late-adolescenceMajority of patients report body image concerns and disordered eating before adolescencePredisposing factorsFamily history of eating disorders, obesity, mood disorderGirls with early puberty or obesity (especially if teased)Past history of abuse, often sexualSports that place an emphasis on thinness

Pediatricians RoleRecognize risk factors and early signs of an eating disorder and obtain an appropriate history and physical exam to guide management.

Comorbid Mental IllnessComorbid mental disorders are present in the majority of patients with an eating disorder.AnorexiaMajor depressionAnxiety disordersOCDGeneralized anxiety disorderSocial phobiaBulimiaComorbid mood disorders (depression, bipolar disorder)Anxiety disordersSubstance abuse disordersMORE high risk behaviors due to impulsivity

Question #1Which of the following is NOT a criteria for the diagnosis of anorexia nervosa?

An intense fear of gaining weight or becoming fat.The absence of 3 consecutive menstrual cycles in a post-menarchal femaleDenial of the seriousness of low body weightRefusal to maintain body weight more than 80% expected for height and ageAn undue influence of body weight or shape on self evaluation.

Anorexia Nervosa

Restrictive typeno binge or purge behaviors; most common typeBinge-eating/purging typePatient regularly engages in binge eating or purging behaviorsVomitingLaxatives/enemasDiuretics

Physical Exam

HospitalizationInpatient managementMultidisciplinary team, including medical specialist, psychiatrist, nutritionist, and social workerGoalsCorrect malnourishmentPromote healthy eating and weight gain pound increase per dayCorrect electrolytesRule out psychiatric issuesDevelop a discharge planPatient contracts

HospitalizationPrevent refeeding syndromeReintroducing food to a patient with anorexia may cause a rapid fall in phosphate, magnesium, and potassium, along with an increasing extracellular volumeHypophosphatemia can lead toRhabdomyolysisDecreased cardiac motility, cardiomyopathyRespiratory and cardiac failureEdema, hemolysis, ATN, seizures, and deliriumPhosphate supplementationDC once stable and appropriate weight gain, often to outpatient facility

Complications

The further patients are from their ideal body weight, the more likely they are to suffer medical complicationsMost complications are corrected with return to ideal body weightBone loss due to hypothalamic amenorrhea or low testosterone (males) does NOT automatically return to normal with weight gain

Outpatient ManagementEstablish a treatment team to monitor the patient.Clear guidelines should be given to the patient with clear criteria for re-admissionEstablish appropriate weight goals -1lb gain per weekThere are varying levels of outpatient care that can be coordinated with the help of the pediatrician.For BMD lossAt least 400-800 IU of vitamin D1200mg elemental calciumDEXA scan for those with 6 months of amenorrheaNO role for psychopharmacologyOutpatient behavioral therapies and family therapies are beneficial

Question #2A 17-year-old girl is brought to the emergency department by her parents because of vomiting. She has no fever, headache, abdominal pain, or diarrhea. She says that over the past 3 years she has periods of time when she vomits and then she is fine for a while. She denies inducing the vomiting. Her periods are regular, and her last one was 2 weeks ago. On physical examination, you note normal vital signs, a body mass index of 28.5, a small subconjunctival hemorrhage on the right eye, and slight enlargement of her parotid glands bilaterally. Laboratory results are fairly normal. Of the following, the MOST likely explanation for these findings isAcute pancreatitisBulimia nervosaCyclic vomitingDiabetic ketoacidosisEctopic pregnancy

BulimiaPatients are often of normal weight or above normal weight and can easily hide their disorder

Purging subtype describes an individual who engages regularly in self-induced vomiting or the misuse of laxatives/diuretics/enema

Nonpurging subtype describes someone who uses other excessive measures (exercise or fasting) to burn calories

Question #3You are seeing your 18 year old patient with a known history of bulimia. Today, you are concerned that your patient may be doing poorly with her outpatient control, as the parents are noticing more warning signs. Every month you follow the patients electrolytes. Which 2 electrolytes should be closely evaluated to help you decide whether or not to admit your patient to the hospital??

Sodium and glucosePotassium and bicarbonateSodium and chlorideGlucose and BUNPotassium and chloride

TreatmentOutpatient managementTeam approachPromote hydration, high fiber diet, and moderate exerciseMonitor electrolytesPO potassium or IV if severe hypokalemiaPPI if refluxSimilar bone care as anorexia if amenorrhea!FLUOXETINE has been shown to help reduce symptomsCognitive behavioral therapyMost patients respond to outpatient management, but some do meet the criteria for hospitalization

PreventionPediatricians should recognize warning signs for both illnesses and intervene quickly!AnorexiaRapid or severe weight lossFalling of growth percentilesExcessive dieting or exercisingConstriction of food choices, calorie countingExcessive concern with weight or body shapeBulimiaWeight cyclesExcessive concern with weight or shapeTrips to bathroom after mealsElectrolyte abnormalitiesSwollen parotic glands or knuckle abrasions

PrognosisNearly 50% recover, 30% show improvement, and 20% have a chronic courseMortality rate up to 5%...worse for anorexia?Prognostic indicatorsGoodOnset before adulthood, especially before 14yoEarly, intensive treatmentFamily supportShorter duration of illnessBadPresence of bingeing and purgingLonger duration of illness before treatmentPoor family relationsComorbid psychiatric conditions

Other DisordersEating disorder NOS: patient with disordered eating who does not meet the criteria for anorexia or bulimiaFemale Athlete Triad1) Low energy availability with or without an eating disorder2) Hypothalamic amenorrheaLow body fat composition that leads to low estrogen and amenorrhea3) OsteoporosisTreatment is multidisciplinary Increase energy availabilityCalcium and vitamin D supplements with weight bearing exercises; DEXA scan if fracture or >6mo amenorrheaProtectionmaintain healthy balance between exercise, energy availability, and body weight

Teen pregnancy and ContraceptionTeen PregnancyThe US has the highest rate of teen pregnancy and births in the industrialized worldThere are numerous social, economic, educational problems associated with teen pregnancyTeen Pregnancy 7 days of bleeding or > 80ml blood lossMetorrhagia: irregular bleedingMenometorrhagia: irregular heavy bleedingAbnormal Vaginal BleedingDue to delay of maturation of negative feedback loopAnovulatory cyclesConstantly proliferating endometrium with irregular sheddingDiagnosis of exclusionDifferential diagnosisThreatened abortionEctopic pregnancyBleeding disorderInfection (PID)Endocrinopathy (PCOS, thyroid disorder)

Question #11 A 14 yo girl, who has had irregular bleeding since menarche at age 11 years, presents with painless menstrual bleeding of 14 days duration. She is using 8 to 10 pads per day. She is tired and is upset with the number of days of bleeding. The only finding on physical examination is mild pallor. Her heart rate is 82, blood pressure is 120/80, with no postural changes. Labs show a hemoglobin of 9.4 g/dL, normal platelet count, PT, PTT, and von Willebrand panel. Of the following, the MOST appropriate treatment for this girl isIron-rich diet A daily dose of oral progesterone pillsCombined oral contraceptive pills and iron supplementationGynecologic referral for surgical treatmentTracking with a menstrual calendar and follow-up appointment in 3 months

Abnormal Bleeding: TreatmentEvaluation: UPT, CBC with retic, TSHMust screen for anemia/iron deficiencyOther labs based on differential diagnosisTreatment:Surgical intervention is RARELY necessaryDepends on severity of anemiaAdmit if severeTreat any anemia with iron replacementGoal: stabilize endometriumEstrogens for initial hemostasisProgestins for endometrial stabilityMost cases: treat with combination OCPGnRH analogs for prophylactic (not acute) treatment

Question #12A 15 yo girl presents for treatment of menstrual cramps. She had menarche 3 years ago and over the last year she began having pain with her cycle. The pain is worse on the first day and she occassionally misses school due to the pain. Of the following, which is the BEST initial treatment?AcetaminophenCalcium channel blockerCombined OCPOmega-3 fatty acidsIbuprofenDysmenorrheaPain associated with menstrual cyclePrimary(functional): occurs in absence of pelvic diseasePain in lower abdomen, back, thighsCaused by prostaglandin E2 and F2a secretionTreatment:1st line: NSAIDSIf no help after 2-3 cycles, consider next step2nd line: OCPIf no help after 3-6 months, reconsider secondary causesSecondary: due to pathologic processIUD, PID, endometriosis, pregnancyConsequences of Sexual Behavior

Mucopurulent CervicitisInflammation of the cervixCaused byChlamydia trachomatisNeisseria gonorrhoeaeTrichomonas vaginalisHSVSigns/Symptoms:Vaginal discharge, itching, irregular bleeding, dyspareunia, friability of cervixLower abdominal pain or cervial/adenexal tenderness suggest PID

Mucopurulent CervicitisEvaluation NAATs for gonorrhea or chlamydiaWet prep, HIV, syphilisTreat based on test results unless unsure of follow-upHigh risk adolescents should be screened for GC and chlamydia every 6 monthsMultiple sexual partners, prior history of STITreatmentGonorrhea: Ceftriaxone 250mg IM x1 (125mg for