DiagnosingAIP.com provides information concerning the diagnosis of Acute Intermittent Porphyria (AIP). The content on this website is intended for U.S. doctors and healthcare professionals only.

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A clinical scenario:
One AIP diagnosis1

The following scenario is used to illustrate some clinical features of Acute Intermittent Porphyria. While acute abdominal pain is a common symptom associated with AIP, no single sign or symptom is universal.2 This scenario may not be typical of all Acute Intermittent Porphyria patients. Presentation, history, and diagnosis may vary.

Patient presentation

We recommend initial rapid testing for urinary porphobilinogen level to diagnose these most common acute porphyrias at or near the time of symptoms.

  • Eighteen-year-old woman presents to the ED in moderate distress.
  • Five-day history of severe abdominal pain
  • Self-reported discoloration of urine
    • No burning or additional pain on urination
    • No fevers, chills
    • No diarrhea, melena, hematochezia
    • No shortness of breath or chest pain

Precipitating factors

  • Patient menstruating at time of admission
  • Previous episodes of abdominal pain usually started two to three days prior to menstrual cycle and usually lasted the length of the cycle
  • Not taking any medications

Patient history

  • Six months of intermittent, localized, severe, sharp epigastric and periumbilical pain
    • Mild nausea
    • No vomiting
  • Two previous admissions for hyponatremia, irregular menstruation, and abdominal pain
  • Extensive work-ups failed to lead to diagnosis
  • No history of psychiatric illness, sexual intercourse, sun sensitivity, smoking, drinking, or illicit drug use
  • Menarche occurred at age 12 years

Physical examination

  • Heart Rate 108 bpm
  • Abdomen was scaphoid
    • Mild tenderness on deep palpation, mostly periumbilical
    • No hepatosplenomegaly
    • Auscultation of abdomen revealed reduced bowel sounds
  • Pelvic examination revealed no cervical motion or adnexal tenderness
  • No visible ulcers or lesions
  • Stool was heme negative

Suspicion

  • Unexplained hyponatremia, history of urinary discoloration, and recurrent abdominal pain associated with menstruation in an 18-year-old patient

Test results

  • Serum electrolyte measurement notable for serum sodium level of 132 mEq/L (normal, 135 - 145 mEq/L)
  • Urea nitrogen, creatinine, and glucose within normal limits
  • Blood count and liver function tests revealed no abnormality
  • Ultrasonography of abdomen unremarkable
  • Computed tomography scan showed mild ileus
  • Urine porphobilinogen: 95 µmol/L (normal, 0 - 8.8 µmol/L)
  • 5-Aminolevulinic acid (urine): 724 µmol/L (normal, 0 - 35 µmol/L)
  • Porphobilinogen deaminase (erythrocytes): 2 mU/g (normal, 2.1 - 4.3 mU/g)

Diagnosis

Urinary and serologic tests confirmed diagnosis of AIP.

  1. Shah, MA, Remoroza, R, Aziz, K. Case Report: Acute Intermittent Porphyria. Hospital Physician. February 2002: 67-71.
  2. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142:439-450.