Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman

A 34-year-old Asian woman arrived at the emergency department (ED) with complaints of sharp, cramping abdominal pain followed by stabbing chest pain that radiated to her back. She also reported numbness, tingling in both hands and feet, and a burning sensation. Upon examination, she exhibited tachycardia and persistently elevated blood pressure. Her lab results revealed low potassium and sodium levels. Despite testing negative for pregnancy, normal hepatic function test, and nerve conduction study, her symptoms persisted, and she was admitted to the intensive care unit for the monitoring and correction of her electrolyte imbalances. She was later discharged but continued to experience symptoms, prompting multiple ED visits. The patient reported the symptoms following a calorie-restricted ketogenic diet and receiving human chorionic gonadotropin (hCG) injections for weight loss, which led the providers to initially diagnose her with "keto flu" due to inadequate nutrient intake. Despite receiving this diagnosis, her symptoms worsened, and she experienced pain throughout her whole body, along with muscle pain and abnormal sensations. Further assessment revealed that her urine was brown and showed abnormal levels of porphyrins, indicating acute intermittent porphyria. A genetic test confirmed the presence of a pathogenic mutation in hydroxymethylbilane synthase (HMBS), leading to a diagnosis of late-onset acute intermittent porphyria.