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[Fatal postoperative crisis in acute hereditary porphyria]
M A Mseddi1, M F Frikha, N Affes
1Service de chirurgie générale, Hôpital Habib Bourguiba Sfax.
Insights
Acute porphyria, a disorder of heme biosynthesis, can be difficult to diagnose. Early identification through specific urinary porphyrin levels is crucial for timely intervention and preventing crises.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Background:
- Acute porphyria is an autosomal dominant disorder affecting heme biosynthesis.
- Early diagnosis is essential to anticipate and manage porphyric crises.
Observation:
- A child with undiagnosed acute porphyria died from respiratory insufficiency post-appendectomy.
- Anesthesia with thiopental and succinylcholine was administered.
- Post-operative complications led to a fatal outcome.
Findings:
- Elevated urinary coproporphyrins and uroporphyrins confirmed acute porphyria.
- Diagnosis is challenging, often requiring a combination of abdominal, psychological, and neurological signs.
- Dark urine can be an indicator.
Implications:
- Family screening and testing for porphyric compounds can identify asymptomatic carriers.
- Triggers include neuropsychiatric drugs, anesthesia, infection, and trauma.
- Prompt transfer to intensive care is vital for managing acute porphyria emergencies.
Abstract:
The acute porphyria is an autosomal dominant disorder of the héme biosynthesis enzyme. The aim of this work is to determin a diagnostic step in order to anticipate porphyric crises. We report the observation of a child which was hospitalized in the pédiatric service three years ago for peripheric arthralgies and myalgies where the diagnosis of an acute porphyria was not posed. He wase admitted in our service for appendicitis, he was operated, the anesthesie was carried out by the thiopenthal and the succinylcholine. At the first post-operative day, a respiratory insufficiency was the cause of death. The rate of coproporphyrines and of uroporphyrines in the urine had confirmed the diagnosis of acute porphyria. The positive diagnostic of acute porphyria is difficult, the association of abdominal, psychological and neurologic signs must suggest the diagnostic, all the more, if the urines have a dark colour. The presence of uroporphyrines and coproporphyrines and certain precursors in the urines or in the high-rated stools confirm the diagnostic. The family survey and dosage of porphyric compounds in the sickness-bearing patient's family members allow to reveal certain asymptomatic forms of the heriditary acute porphyria, it is caused by certain products used in neuropsychiatry, in aneasthesic or in certain circunstances, such as, the infection or the trauma. The treatment of the acute porphyria is an emergency wich requires the transfert of the patient to a unit of intensive care.