Cerebral vasospasm in acute porphyria

• Published in: European journal of neurology Vol. 24; no. 9; pp. 1183 - 1187
• Main Authors: Olivier, P., Van Melkebeke, D., Honoré, P.‐J., Defreyne, L., Hemelsoet, D.
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.09.2017
• Subjects: Abdominal Pain - etiology; Acute Disease; acute porphyria; Adult; Biosynthesis; Brain; Brain - diagnostic imaging; Case reports; Classification; Complications; Disorders; Female; Haem; Hemin - therapeutic use; Humans; Lesions; Magnetic Resonance Imaging; Metabolic disorders; Neuropathy; Pain; Pathogenesis; Patients; Porphyria; Porphyrias - complications; Porphyrias - diagnostic imaging; Porphyrias - psychology; Vasoconstriction; vasospasm; Vasospasm, Intracranial - diagnostic imaging; Vasospasm, Intracranial - etiology; Vasospasm, Intracranial - psychology; Visual Acuity; acute porphyria; vasospasm
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/ene.13347

Background and purpose Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non‐acute porphyrias considering the occurrence of life‐threatening neurovisceral attacks, presenting with abdominal pain, neuropsychiatric disturbance and neuropathy. Vasospasm is a very rare complication that can occur in all major types of acute porphyria. Methods We describe a porphyric crisis with vasospasm in a woman with previously undiagnosed acute porphyria. Furthermore we performed a systematic review by searching the electronic database Pubmed/MEDLINE for additional data in published studies of vasospasm in acute porphyria. Results Overall, 9 case reports reporting on 11 patients who suffered vasospasm during an exacerbation of acute porphyria were identified. All of the reported patients were women and the mean age was 29.4 years. When brain MRI was performed, T2‐hyperintense lesions, consistent with ischaemic changes, were observed in most patients (10/11, 91%). Although the genetic pathogenesis of the disease is well understood, the precise mechanisms to explain neurologic involvement in acute porphyria remain unclear. Conclusion Acute porphyria is an unusual and rare cause of vasospasm. However, considering porphyria in patients with unexplained cerebral vasospasm, especially in women of childbearing age, is crucial given the severity of possible complications and the available treatment options.