THINK PORPHYRIA: CASE REPORT AND REVIEW OF LITERATURE

Zane Straume, Vita Skuja, Anna Proskurina, Justīne Māliņa, Sigita Hasnere, Inga Krupnova, Aivars Lejnieks, Aleksejs Derovs

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Porphyrias are a group of rare disorders caused by enzyme defects in haem biosynthesis pathway. Acute intermittent porphyria is the most common hepatic porphyria. The disorder presents with severe neuropathic abdominal pain that can be accompanied by a wide range of gastrointestinal, psychiatric and neurological symptoms, making the diagnosis clarification very challenging. We report a case of a 27-year-old female patient who presented with acute abdominal pain, vomiting and marked hyponatremia, developed seizures and disorientation, and eventually required intensive care unit treatment to maintain breathing. Her symptoms were initially misinterpreted as a functional gastrointestinal disorder, thus delaying the needed specific treatment. She was diagnosed a week after the initial hospital admission, and her condition improved after receiving treatment with intravenous glucose and haemin. For patients with acute neurovisceral attacks, early clinical recognition is essential. Severe hyponatremia, urine that develops orange colour on exposure to light and gastrointestinal symptom combination with neurologic symptoms are three valuable clues that may lead to the right diagnosis faster. Pathophysiology of hyponatremia in case of acute intermittent porphyria in only partly understood and can be associated with syndrome of inappropriate antidiuretic hormone secretion, gastrointestinal or renal sodium loss.

Original languageEnglish
Pages (from-to)69-77
Number of pages9
JournalĖksperimental'nai︠a︡ i klinicheskai︠a︡ gastroėnterologii︠a︡ = Experimental & clinical gastroenterology
Issue number7
Publication statusPublished - 2015
Externally publishedYes

Field of Science

  • 3.2 Clinical medicine

Publication Type

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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