heme-arginate and Hyponatremia

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.

Topics: Abdominal Pain; Adolescent; Analgesics; Arginine; Disease Management; Fatal Outcome; Female; Hallucinations; Heme; Humans; Hyponatremia; Monitoring, Physiologic; Porphobilinogen; Porphyria, Acute Intermittent; Water-Electrolyte Balance

Abdominal pain is a common complaint for visits to ED. Among the causes of abdominal pain, the acute porphyria may confuse emergency physicians. With wide range of unspecific symptoms and signs, acute porphyria is rarely considered as a differential diagnosis of acute abdomen in ED. Some patients even receive unnecessary surgery. There are 32 patients who visited the ED of National Taiwan University Hospital because of acute porphyric attacks over the past 13 years. Ten patients (3 males and 7 females) were diagnosed with acute porphyria for the first time at ED. The onset of age ranged from 17 to 55 years (mean, 32 years). All of our patients presented with abdominal pain but without fever, dermatologic, and neurologic symptoms that are typically presented in acute porphyria. On the average, most of them repeatedly sought for medical help because of persistent symptoms for 4 times before being definitely diagnosed and thus receiving the optimal treatment. Meanwhile, all patients needed at least 2 kinds of analgesic, and most of them needed narcotic analgesia for pain control before diagnosis. The most commonest point of tenderness is over epigastrium (7 of 10 patients). The laboratory and image studies of our patients were of no diagnostic value for acute porphyria, except for Watson-Schwartz test. In summary, our study revealed that when a patient after puberty with repetitive visits because of severe abdominal pain without reasonable causes and needs narcotics for pain control, acute porphyria should be taken into consideration.

Topics: Abdominal Pain; Adolescent; Adult; Age of Onset; Analgesia; Arginine; Diagnostic Errors; Emergency Medicine; Emergency Service, Hospital; Female; Glucose; Heme; Humans; Hyponatremia; Infusions, Intravenous; Male; Middle Aged; Porphyria, Acute Intermittent; Retrospective Studies; Seizures; Taiwan; Treatment Outcome

Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. Patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP.

Topics: Adult; Arginine; Brain; Female; Fluid Therapy; Heme; Humans; Hyponatremia; Myelinolysis, Central Pontine; Necrosis; Porphyria, Acute Intermittent; Saline Solution, Hypertonic; Seizures; Vasospasm, Intracranial