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Clinical Correlations The NYU Langone Online Journal of Medicine

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

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Clinical Correlations The NYU Langone Online Journal of Medicine

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

  2. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS NYU Medicine Grand Rounds Clinical Vignette Anjali Varma Desai Medicine PGY-2 Resident January 15th, 2014

  3. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • 30 year old Caucasian woman presents with nausea, vomiting, abdominal pain for five days, and syncope on day of presentation Chief Complaint

  4. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Nasal septum surgery in August 2010 • Post-operative constipation, abdominal pain, nausea and vomiting • Admitted to the hospital eight days post-operatively after syncopal episode History of Present Illness

  5. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Symptoms self-resolved after five days • Presumed diagnosis post-operative ileus Hospital Course

  6. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Five 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 Second Hospitalization

  7. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • Five weeks later, hospitalized for recurrent symptoms • Underwent endoscopy, colonoscopy, brain MRI, MRA, several subspecialties consulted • Urine Aminolevulinic Acid (ALA) and Porphobilinogen (PBG) ordered Third Hospitalization

  8. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS • 11/18/2010: • 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) Laboratory Testing

  9. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Diagnosis and Next Steps • Diagnosis: Acute Hepatic Porphyria • Acute Intermittent Porphyria most common • After 3 hemin infusions, discharged with symptom improvement • Outpatient hemin infusions started

  10. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Outpatient Course • Attacks recurred at 5 week intervals • Timing of attacks closely related to menstruation • Started Synarel on 2/10/11, no clear improvement in symptoms

  11. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Medical Genetics Evaluation • 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)

  12. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Medical Genetics Evaluation (continued) • Hydroxymethylbilane Synthase (HMBS), Mutation L30P • February 2012: started lupron, prophylactic schedule changed to biweekly • Port placed December 2012; Estrogen therapy caused severe attack

  13. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Medical 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 Excretion”

  14. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Family History • No symptomatic family members • Eastern European Ashkenazi Jewish on both sides • No consanguinity • 2 sisters (ages 30 and 40) Asymptomatic Heterozygotes • Mother Asymptomatic Heterozygote • Healthy 4 year old daughter

  15. UNITED STATES DEPARTMENT OF VETERANS AFFAIRS Family History

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