Cerebral vasospasm in acute porphyria

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Porphyrias are inherited metabolic disorders affecting haem biosynthesis.
• Acute porphyrias can cause life-threatening neurovisceral attacks.
• Vasospasm is a rare but serious complication of acute porphyria.

Observation:

• A case of porphyric crisis with vasospasm in a previously undiagnosed woman was described.
• A systematic review identified 9 case reports (11 patients) of vasospasm in acute porphyria.
• All reported patients were women, with a mean age of 29.4 years.

Findings:

• Cerebral vasospasm is an unusual complication of acute porphyria.
• Brain MRI revealed ischemic changes (T2-hyperintense lesions) in 91% of patients.
• The exact mechanisms of neurological involvement in acute porphyria require further investigation.

Implications:

• Considering acute porphyria in women of childbearing age with unexplained cerebral vasospasm is crucial.
• Prompt diagnosis and management of acute porphyria can prevent severe complications.
• Understanding vasospasm in acute porphyria aids in developing targeted treatment strategies.