1 / 15

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

creola
Download Presentation

Clinical Correlations The NYU Langone Online Journal of Medicine

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related