Chronic Elevation of Liver Enzymes in Acute Intermittent Porphyria Initially Misdiagnosed as Autoimmune Hepatitis

Abstract

Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men. We describe a 32-year-old woman with elevated transaminases, autoantibodies, and a liver biopsy result suggestive of autoimmune hepatitis. The indicated treatment was administered without showing a satisfactory response. The patient had a family history of acute intermittent porphyria (AIP) so we decided to begin treatment with hematin, achieving a complete remission of the symptoms. Acute intermittent porphyria is a rare condition characterized by neurovisceral symptoms, abdominal pain being the most common of them. The disease has a higher prevalence among young women and certain European countries such as Sweden, Great Britain, and Spain. A correct diagnosis and prompt treatment are essential because patients affected by AIP must have a strict followup due to the fatal outcome of the outbreaks.

Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria

“…Hyponatremia has classically been found in AIP in up to 50% of cases, and is thought to be due to a mild form of SIADH [6]. Various case studies have also described mild transaminitis, although this is a topic of debate and not clearly described [7]. Normocytic anemia from reduced heme production is also often present [8].…”

Acute Intermittent Porphyria - an Unexpected Association in a Patient with Newly Diagnosed Crohn’s Disease

“…Although AIP is rarely seen in clinical practice, with only 2-3 cases out of 100,000 each year, the real incidence of enzymatic changes in apparently healthy patients is much higher [4]. Only 20% of patients with genetic alterations exhibit clinical symptoms in the presence of a trigger [5].…”