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