Clinical Correlations The NYU Langone Online Journal of Medicine
http://clinicalcorrelations.org
NYU Medicine Grand Rounds Clinical Vignette
Anjali Varma Desai
Medicine PGY-2 Resident
January 15th, 2014
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
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
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
Hospital Course
•Symptoms self-resolved after five days
•Presumed diagnosis post-operative ileus
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
Second Hospitalization
•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
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
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
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
Laboratory Testing
•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)
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• Diagnosis: Acute Hepatic Porphyria– Acute Intermittent Porphyria most common
• After 3 hemin infusions, discharged with symptom improvement
• Outpatient hemin infusions started
Diagnosis and Next Steps
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• 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
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• 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
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• Hydroxymethylbilane Synthase (HMBS), Mutation L30P
• February 2012: started lupron, prophylactic schedule changed to biweekly
• Port placed December 2012; Estrogen therapy caused severe attack
Medical Genetics Evaluation(continued)
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• 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”
Medical Genetics Evaluation(continued)
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
• 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
Family History
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
Family History
UNITED STATES
DEPARTMENT OF VETERANS
AFFAIRS
