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Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP and SLE is rare. We report a case of concomitant diagnosis of AIP and SLE in a 21-year-old woman who presented with recurrent acute abdominal, chest, and back pain associated with nausea and vomiting, followed by arthralgia, multiple joint pain, and rash. Investigations revealed severe hyponatremia related to SIADH (syndrome of inappropriate antidiuretic hormone secretion) with a positive SLE antibody panel and a positive urine screen for porphobilinogen. Molecular test confirmed the diagnosis of AIP with a pathogenic mutation in the HMBS gene.

Competing Interests: Conflict of interest: None declared.

A 40-year-old man attended the emergency room with abdominal pain and inappropriate behaviour associated with stress, and the consumption of alcohol and cannabis. Examination revealed hypertension (155/100 mmHg), tachycardia (95 beats per minute), abdominal pain and leucocytosis with neutrophilia, hyponatraemia and hypokalaemia. Urine was positive for nitrites, elevated bilirubin and cannabinoids. The patient was diagnosed with acute intermittent porphyria (AIP) and immediately treated. After initial treatment, the patient improved. However, he subsequently relapsed after initiating treatment with oseltamivir for a flu-like illness. Treatment was discontinued and the patient progressed favourably. AIP recurrence could have been mediated by oseltamivir; an association not previously described in the literature., (© Royal College of Physicians 2022. All rights reserved.)

A previously healthy 16-year-old girl presented to the emergency department with 1 week of severe, diffuse abdominal pain and constipation, as well as several episodes of nonbloody, nonbilious emesis. Her symptoms began several days after she decreased her caloric intake in an attempt to lose weight. She had been drinking 48 to 60 oz of water per day for several days before admission in an attempt to ameliorate her constipation. She also admits to drinking alcohol the night before her pain began. She had visited several other emergency departments before her presentation to our hospital, and she had been sent home on a bowel regimen without amelioration of her symptoms. On arrival to our emergency department, she described severe diffuse abdominal pain. Her abdomen was tender to palpation throughout but soft with no rebound tenderness or peritoneal signs. The remainder of her physical examination yielded normal results. She was found to have hyponatremia with a sodium level of 122 and no neurologic sequelae. Abdominal radiograph showed moderate constipation but her abdominal pain continued even after bowel cleanout. The home, education, activities, drugs, sex, suicide, and safety assessment revealed several stressors, including a recent suicide in the family and a history of disordered eating and anxiety. Here, we present her case, diagnostic evaluation, ultimate diagnosis, and complications., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2018 by the American Academy of Pediatrics.)

Acute neurovisceral attacks of porphyria can be life threatening. They are rare and notoriously difficult to diagnose clinically, but should be considered, particularly in female patients with unexplained abdominal pain, and associated neurological or psychiatric features or hyponatraemia. The diagnosis might be suggested by altered urine colour and can be confirmed by finding an elevated porphobilinogen concentration in fresh urine protected from light. Severe attacks require treatment with intravenous haem arginate and supportive management with safe drugs, including adequate analgesia. Intravenous glucose in water solutions are contraindicated as they aggravate hyponatraemia, which can prove fatal.

Objective: To discuss the diagnosis and management of acute intermittent porphyria following ovulation induction., Design: Case report., Setting: Academic IVF center., Patient(s): A patient with polycystic ovary syndrome and primary infertility undergoing ovulation induction with clomiphene citrate., Intervention(s): Serial phlebotomy, IV fluid, inpatient observation., Main Outcome Measure(s): Condition at discharge., Result(s): The patient was diagnosed with severe hyponatremia caused by acute volume depletion and possible syndrome of inappropriate antidiuretic hormone secretion, secondary to acute intermittent prophyria, and was successfully managed with supportive measures. Neurovisceral symptoms resolved, and severe hyponatremia was corrected with IV saline solution without complications., Conclusion(s): Acute intermittent porphyrias are rare complications of ovulation induction, but should be considered in patients who develop unexplained hyponatremia or neurovisceral symptoms.