An Adolescent Female With Disordered Eating and Cannabis Use Found to Have Acute Intermittent Porphyria

Area of Science:

• Medical Case Study
• Adolescent Medicine
• Gastroenterology

Background:

• Eating disorders and cannabinoid hyperemesis syndrome are common in adolescent females, presenting with nausea, vomiting, and weight loss.
• Acute intermittent porphyria (AIP), though rare, shares pathophysiological similarities and requires a high index of suspicion.

Observation:

• A 15-year-old female presented with nausea, vomiting, and decreased appetite, initially attributed to cannabis use and disordered eating.
• She later returned with seizures and altered mental status, prompting further medical investigation.

Findings:

• Medical workup confirmed Acute Intermittent Porphyria (AIP) as the underlying diagnosis.
• The patient responded well to AIP-specific treatment, highlighting its treatability.

Implications:

• AIP diagnosis can be delayed due to symptom overlap with more common conditions like cannabinoid hyperemesis syndrome and eating disorders.
• Increased clinical suspicion for AIP is crucial in adolescents presenting with unexplained gastrointestinal and neurological symptoms.
• This case underscores the importance of considering rare diagnoses even when common ones seem likely.