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Acute hepatic porphyria
Background
Overview
Definition
Acute hepatic porphyrias are a group of rare metabolic disorders characterized by an abnormal accumulation of porphyrins and porphyrin precursors, primarily delta-ALA, in the body due to deficiencies in certain enzymes involved in the heme biosynthetic pathway.
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Pathophysiology
Acute hepatic porphyrias are caused by defects in one of the eight enzymes involved in the heme biosynthetic pathway. This leads to the accumulation of organic compounds called porphyrins, specifically in the liver.
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Epidemiology
The prevalence of acute hepatic porphyrias is estimated at about 1 in 1,600 Caucasians.
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Disease course
Clinical manifestations are often neurological and can result from severe episodes of acute attacks. These include an acute, predominantly motor axonal neuropathy resembling Guillain-Barré syndrome, neuropsychiatric syndromes, seizures, encephalopathy, and cerebrovascular disorders. Severe abdominal pain is also a common symptom. If left untreated, potential long-term complications, including chronic hypertension, CKD, and HCC, develop.
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Prognosis and risk of recurrence
The prognosis can be good with early diagnosis and management, which includes avoiding identifiable triggers, controlling pain, and administering intravenous hemin during acute attacks.
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Guidelines
Key sources
The following summarized guidelines for the evaluation and management of acute hepatic porphyria are prepared by our editorial team based on guidelines from the American Gastroenterological Association (AGA 2023).
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Screening and diagnosis
Diagnostic investigations
Laboratory testing: as per AGA 2023 guidelines, obtain biochemical testing of D-ALA, porphobilinogen, and creatinine on a random urine sample for the initial diagnosis of acute hepatic porphyrias.
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Genetic testing
Medical management
Management of acute attacks
As per AGA 2023 guidelines:
Administer IV hemin, given daily, preferably into a high-flow central vein, in patients with acute attacks of acute hepatic porphyrias severe enough to require hospital admission.
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Control pain, administer antiemetics, manage systemic arterial hypertension, tachycardia, hyponatremia, and hypomagnesemia, if present, in addition to IV hemin in patients with acute attacks of acute hepatic porphyrias.
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Prevention of recurrent attacks
Surgical interventions
Patient education
General counseling
As per AGA 2023 guidelines:
Advise avoiding identifiable triggers precipitating acute attacks, such as alcohol and porphyrinogenic medications.
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Counsel patients about chronic and long-term complications of acute hepatic porphyrias, including neuropathy, CKD, hypertension, and HCC, and the need for long-term monitoring.
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