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Acute hepatic porphyrias

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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Key sources
The following summarized guidelines for the evaluation and management of acute hepatic porphyrias are prepared by our editorial team based on guidelines from the American Gastroenterological Association (AGA 2023).
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Guidelines

1.Screening and diagnosis

Indications for screening: consider screening for acute hepatic porphyrias in 15-50 years old female patients with unexplained, recurrent severe abdominal pain without a clear etiology after an initial workup.
C
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2.Diagnostic investigations

Laboratory testing: obtain biochemical testing of D-ALA, porphobilinogen, and creatinine on a random urine sample for the initial diagnosis of acute hepatic porphyrias.
B

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3.Medical management

Intravenous hemin: 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.
B

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4.Surgical interventions

Liver transplantation: reserve liver transplantation for patients with acute hepatic porphyrias with intractable symptoms and significantly decreased QoL refractory to pharmacotherapy.
B

5.Patient education

General counseling
Advise avoiding identifiable triggers precipitating acute attacks, such as alcohol and porphyrinogenic medications.
B
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.
B

6.Preventative measures

Prophylactic hemin therapy: consider administering prophylactic heme therapy or givosiran, given in an outpatient setting, in patients with recurrent attacks (≥ 4 per year).
C

7.Follow-up and surveillance

Monitoring for liver disease: obtain annual monitoring for liver disease in patients with acute hepatic porphyrias.
B

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  • Surveillance for HCC