Clinical Correlations The NYU Langone Online Journal of Medicine

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Clinical Correlations The NYU Langone Online Journal of Medicine. U NITED S TATES D EPARTMENT OF V ETERANS A FFAIRS. NYU Medicine Grand Rounds Clinical Vignette. Anjali Varma Desai Medicine PGY-2 Resident January 15 th , 2014. U NITED S TATES - PowerPoint PPT Presentation


<ul><li><p>Clinical Correlations The NYU Langone Online Journal of Medicine</p></li><li><p> NYU Medicine Grand Rounds Clinical VignetteAnjali Varma DesaiMedicine PGY-2 ResidentJanuary 15th, 2014</p></li><li><p> 30 year old Caucasian woman presents with nausea, vomiting, abdominal pain for five days, and syncope on day of presentationChief Complaint</p></li><li><p>Nasal septum surgery in August 2010</p><p>Post-operative constipation, abdominal pain, nausea and vomiting</p><p>Admitted to the hospital eight days post-operatively after syncopal episodeHistory of Present Illness</p></li><li><p>Hospital CourseSymptoms self-resolved after five days</p><p>Presumed diagnosis post-operative ileus</p></li><li><p>Second HospitalizationFive weeks later, recurrent constipation, abdominal pain, nausea and vomiting</p><p>Evaluated by Gastroenterologist and Gynecologist, no cause for symptoms found</p><p>Hospitalized for seven days, discharged after symptoms self-resolved, no known diagnosis</p></li><li><p>Third Hospitalization</p><p>Five weeks later, hospitalized for recurrent symptoms </p><p>Underwent endoscopy, colonoscopy, brain MRI, MRA, several subspecialties consulted</p><p>Urine Aminolevulinic Acid (ALA) and Porphobilinogen (PBG) ordered</p></li><li><p>Laboratory Testing11/18/2010: Urine PBG: 136.4 mg/24 hour (50x ULN) (normal 0-2.7 mg/24 hour)Urine ALA: 81.0 umol/L (2.3x ULN) (normal 0-35 umol/L)</p></li><li><p>Diagnosis: Acute Hepatic PorphyriaAcute Intermittent Porphyria most common</p><p>After 3 hemin infusions, discharged with symptom improvement</p><p>Outpatient hemin infusions startedDiagnosis and Next Steps</p></li><li><p>Attacks recurred at 5 week intervals</p><p>Timing of attacks closely related to menstruation</p><p>Started Synarel on 2/10/11, no clear improvement in symptoms</p><p>Outpatient Course</p></li><li><p>Monthly prophylactic hemin infusions started, Synarel tapered off</p><p>Notable labs:Urine ALA 39.1 mg/L (5.6x ULN) (normal 0-7 mg/L)Urine PBG 67.4 mg/L (16.9x ULN) (normal 0-4 mg/L)Total porphyrins 3205 nmol/L (~10x ULN) (normal 0-300 nmol/L)</p><p>Medical Genetics Evaluation</p></li><li><p>Hydroxymethylbilane Synthase (HMBS), Mutation L30P</p><p>February 2012: started lupron, prophylactic schedule changed to biweekly</p><p>Port placed December 2012; Estrogen therapy caused severe attackMedical Genetics Evaluation(continued)</p></li><li><p>July 2013 started weekly hemin infusions</p><p>Lupron discontinued, symptoms controlled</p><p>Notable labs:Urine ALA 11.8 mmol/m creat. (3.9x ULN) (normal 0.09-2.97 mmol/m creat.)Urine PBG 47 mmol/m creat. (43.5x ULN) (normal 0-1.08 mmol/m creat.)High ExcretionMedical Genetics Evaluation(continued)</p></li><li><p>No symptomatic family membersEastern European Ashkenazi Jewish on both sidesNo consanguinity2 sisters (ages 30 and 40) Asymptomatic HeterozygotesMother Asymptomatic HeterozygoteHealthy 4 year old daughterFamily History</p></li><li><p>Family History</p><p>**************</p></li></ul>


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