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Acute porphyria is a term that encompasses a group of hereditary disorders involving defects in heme metabolism, characterized by acute episodes of abdominal pain, acute hypertension, tachycardia and neuropsychiatric disorders, sometimes leading to convulsions, ascending paralysis and coma. Misdiagnosis or delayed diagnosis can seriously worsen prognosis. We report the case of a woman with subclinical acute intermittent porphyria and chronic hepatitis incidentally diagnosed due to transaminase elevation on laboratory analysis., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a 24-year-old woman with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and motor and sensory neurological deficits due to an attack of acute porphyria. The patient presented to the emergency department with abdominal pain. The results of physical examination and laboratory investigations were normal. Two days after admission, the patient developed seizures as a result of hyponatremia due to SIADH, which, together with the observation of red urine, led to the diagnosis of AIP. Before hematin was available, the patient developed autonomic instability and peripheral neuropathy with muscular weakness. We briefly review the clinical and laboratory features of this syndrome and emphasize the importance of its inclusion in the differential diagnosis of gastrointestinal diseases, hyponatremia and neuropathy. Prompt recognition of this entity and early specific treatment with haem arginate are important to prevent irreversible complications., (Copyright 2009 Elsevier España, S.L. All rights reserved.)

Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation.

Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism. It can produce a variety of symptoms including abdominal pain. In Spain it is an uncommon disease and consequently may not be included in the differential diagnosis of acute abdominal pain. Two cases of AIP are reported, both of which started with recurrent abdominal pain. A brief commentary of the main topics of the disease is made with special emphasis on the importance of an early diagnosis.