Diagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study

Porphyria is a rare and often underdiagnosed metabolic disorder that leads to abdominal pain, pelvic pain, changes in neurological states, and digestive issues due to a buildup of porphyrins in the body. Diagnosis can be especially difficult in young women, where symptoms of porphyria often overlap with gynecological conditions. We present a case of a 37-year-old female patient who was experiencing persistent lower abdominal and pelvic pain, brain fog and confusion, and a rash after long sun exposure. Despite extensive evaluation from her gynecologist, including transvaginal ultrasound and pap smears, no abnormalities were found. Further evaluation performed by her primary care physician showed elevated porphyrin levels, suggesting a possible diagnosis of either hereditary coproporphyria or acute intermittent porphyria. After implementing a low-protein diet, the patient reported significant pain relief, which further supports a diagnosis of porphyria. This case highlights not only the challenges of diagnosing porphyria in young women but also the value of considering metabolic disorders in a preliminary differential diagnosis. Diagnostic laboratory testing of urine and stool remains the gold standard. However, advances in genetic testing have shown to be more conclusive, yet these tests are costly.