Clinical Correlations The NYU Langone Online Journal of Medicine http://clinicalcorrelations.org.

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  • Clinical Correlations The NYU Langone Online Journal of Medicinehttp://clinicalcorrelations.org

  • NYU Medicine Grand Rounds Clinical VignetteAnjali Varma DesaiMedicine PGY-2 ResidentJanuary 15th, 2014

  • 30 year old Caucasian woman presents with nausea, vomiting, abdominal pain for five days, and syncope on day of presentationChief Complaint

  • Nasal septum surgery in August 2010

    Post-operative constipation, abdominal pain, nausea and vomiting

    Admitted to the hospital eight days post-operatively after syncopal episodeHistory of Present Illness

  • Hospital CourseSymptoms self-resolved after five days

    Presumed diagnosis post-operative ileus

  • Second HospitalizationFive weeks later, recurrent constipation, abdominal pain, nausea and vomiting

    Evaluated by Gastroenterologist and Gynecologist, no cause for symptoms found

    Hospitalized for seven days, discharged after symptoms self-resolved, no known diagnosis

  • Third Hospitalization

    Five weeks later, hospitalized for recurrent symptoms

    Underwent endoscopy, colonoscopy, brain MRI, MRA, several subspecialties consulted

    Urine Aminolevulinic Acid (ALA) and Porphobilinogen (PBG) ordered

  • 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)

  • Diagnosis: Acute Hepatic PorphyriaAcute Intermittent Porphyria most common

    After 3 hemin infusions, discharged with symptom improvement

    Outpatient hemin infusions startedDiagnosis and Next Steps

  • Attacks recurred at 5 week intervals

    Timing of attacks closely related to menstruation

    Started Synarel on 2/10/11, no clear improvement in symptoms

    Outpatient Course

  • Monthly prophylactic hemin infusions started, Synarel tapered off

    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)

    Medical Genetics Evaluation

  • Hydroxymethylbilane Synthase (HMBS), Mutation L30P

    February 2012: started lupron, prophylactic schedule changed to biweekly

    Port placed December 2012; Estrogen therapy caused severe attackMedical Genetics Evaluation(continued)

  • July 2013 started weekly hemin infusions

    Lupron discontinued, symptoms controlled

    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)

  • 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

  • Family History

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