Acute intermittent porphyria after right hemi-colectomy

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease.
• It stems from a genetic deficiency in porphobilinogen deaminase, crucial for heme biosynthesis.
• AIP precipitated by surgery is an exceptionally rare occurrence.

Purpose of the Study:

• To highlight the rare presentation of AIP post-surgery.
• To emphasize the diagnostic challenges and critical management of this condition.

Main Methods:

• Case report of a 24-year-old woman experiencing AIP five days after a right hemi-colectomy.
• Diagnosis confirmed by urine porphobilinogen testing and HMBS gene mutation analysis.
• Critical care management including mechanical ventilation and symptomatic treatment.

Main Results:

• The patient presented with severe neuro-visceral, psychiatric, and hyponatremic manifestations.
• Diagnosis was confirmed via biochemical and genetic testing.
• Prompt intensive care unit (ICU) management was initiated.

Conclusions:

• AIP is the most common and life-threatening acute porphyria, predominantly affecting women post-puberty.
• Postoperative AIP can mimic various surgical and medical conditions, often triggered by surgical stress and low caloric intake.
• Early suspicion, ICU admission, high-calorie intake, and timely hematin treatment are crucial for managing AIP and preventing mortality.