Acute Intermittent Porphyria as a Cause of Respiratory Failure: Case Report

Abstract

A 45-year-old man with end-stage renal disease due to polycystic kidney disease was admitted to the hospital because of recurrent abdominal pain, progressive peripheral motor neuron neuropathy, and respiratory failure. The diagnosis of acute intermittent porphyria was confirmed by an elevated porphyrin concentration in the urine and the presence of an R167Q mutation in the porphobilinogen deaminase gene. Use of hydroxyzine, weight loss, and/or a mild upper respiratory viral infection might have been the provoking factor of the acute intermittent porphyria. Treatment with intravenous hemin (3 mg/kg) and a high-carbohydrate diet (3000 kcal/d) had no clinical effect. Tetraplegia and chronic respiratory insufficiency developed, and the patient needed a pacemaker because of a symptomatic sinus bradycardia due to autonomic dysfunction. The patient died 10 months after the first manifestation of acute intermittent porphyria.

Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse

“…The development of end stage renal disease is a devastating complication in AIP patients with chronic active disease, leading to unavoidable vascular complications, dialysis treatment, progression of peripheral motor neuropathy and, occasionally, respiratory failure [15]. Such patients may also suffer from cutaneous bullous lesions resembling PCT [11], [16].…”

Cardiac Surgery in Patients with Acute Intermittent Porphyria

“…The prevalence of symptomatic AIP is two to three cases per 100,000 per year, with its highest incidence in Northern Europe (1:100,00) 4,5 …”

“…These acute attacks can be life threatening. It has been estimated that 1% of acute crises may be fatal 2–4 …”

Liver Transplantation in Acute Hepatic Porphyria and Erythropoietic Protoporphyria

“…Involvement of respiratory functions may lead to respiratory failure. 28,29 Bladder dysfunction or paresis, and in rare cases, even cortical blindness can occur. 30 Hypertension and tachycardia are often present.…”

“…It leads to unavoidable vascular complications, progression of neuropathy, and occasionally to respiratory failure. 28 A pre-existing renal impairment will constitute a risk for post-transplant deterioration as a consequence of immunosuppressive therapy. Progressive nephropathy with a declining glomerular filtration rate is thus an ominous clinical finding.…”