Acute hepatic porphyrias: Recommendations for evaluation and long-term management

for the Porphyrias Consortium of the Rare Diseases Clinical Research Network

Research output: Contribution to journalReview article

18 Citations (Scopus)

Abstract

The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These disorders present clinically with acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic attacks (<4 attacks/year) or recurrent acute attacks (≥4 attacks/year), asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations. Given their clinical heterogeneity and potential for significant morbidity with suboptimal management, comprehensive clinical guidelines for initial evaluation, follow-up, and long-term management are needed, particularly because no guidelines exist for monitoring disease progression or response to treatment. The Porphyrias Consortium of the National Institutes of Health's Rare Diseases Clinical Research Network, which consists of expert centers in the clinical management of these disorders, has formulated these recommendations. These recommendations are based on the literature, ongoing natural history studies, and extensive clinical experience. Initial assessments should include diagnostic confirmation by biochemical testing, subsequent genetic testing to determine the specific acute hepatic porphyria, and a complete medical history and physical examination. Newly diagnosed patients should be counseled about avoiding known precipitating factors. The frequency of follow-up depends on the clinical subgroup, with close monitoring of patients with recurrent attacks who may require treatment modifications as well as those with clinical complications. Comprehensive care should include subspecialist referrals when needed. Annual assessments include biochemical testing and monitoring for long-term complications. These guidelines provide a framework for monitoring patients with acute hepatic porphyrias to ensure optimal outcomes. (Hepatology 2017;66:1314-1322).

Original languageEnglish (US)
Pages (from-to)1314-1322
Number of pages9
JournalHepatology
Volume66
Issue number4
DOIs
StatePublished - Oct 1 2017

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Porphyrins
Physiologic Monitoring
Guidelines
Porphyrias
Precipitating Factors
Biosynthetic Pathways
National Institutes of Health (U.S.)
Genetic Testing
Gastroenterology
Rare Diseases
Natural History
Heme
Physical Examination
Disease Progression
Referral and Consultation
Morbidity
Enzymes
Therapeutics
Research
Acute Hepatic Porphyria

ASJC Scopus subject areas

  • Hepatology

Cite this

for the Porphyrias Consortium of the Rare Diseases Clinical Research Network (2017). Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology, 66(4), 1314-1322. https://doi.org/10.1002/hep.29313

Acute hepatic porphyrias : Recommendations for evaluation and long-term management. / for the Porphyrias Consortium of the Rare Diseases Clinical Research Network.

In: Hepatology, Vol. 66, No. 4, 01.10.2017, p. 1314-1322.

Research output: Contribution to journalReview article

for the Porphyrias Consortium of the Rare Diseases Clinical Research Network 2017, 'Acute hepatic porphyrias: Recommendations for evaluation and long-term management', Hepatology, vol. 66, no. 4, pp. 1314-1322. https://doi.org/10.1002/hep.29313
for the Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017 Oct 1;66(4):1314-1322. https://doi.org/10.1002/hep.29313
for the Porphyrias Consortium of the Rare Diseases Clinical Research Network. / Acute hepatic porphyrias : Recommendations for evaluation and long-term management. In: Hepatology. 2017 ; Vol. 66, No. 4. pp. 1314-1322.
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abstract = "The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These disorders present clinically with acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic attacks (<4 attacks/year) or recurrent acute attacks (≥4 attacks/year), asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations. Given their clinical heterogeneity and potential for significant morbidity with suboptimal management, comprehensive clinical guidelines for initial evaluation, follow-up, and long-term management are needed, particularly because no guidelines exist for monitoring disease progression or response to treatment. The Porphyrias Consortium of the National Institutes of Health's Rare Diseases Clinical Research Network, which consists of expert centers in the clinical management of these disorders, has formulated these recommendations. These recommendations are based on the literature, ongoing natural history studies, and extensive clinical experience. Initial assessments should include diagnostic confirmation by biochemical testing, subsequent genetic testing to determine the specific acute hepatic porphyria, and a complete medical history and physical examination. Newly diagnosed patients should be counseled about avoiding known precipitating factors. The frequency of follow-up depends on the clinical subgroup, with close monitoring of patients with recurrent attacks who may require treatment modifications as well as those with clinical complications. Comprehensive care should include subspecialist referrals when needed. Annual assessments include biochemical testing and monitoring for long-term complications. These guidelines provide a framework for monitoring patients with acute hepatic porphyrias to ensure optimal outcomes. (Hepatology 2017;66:1314-1322).",
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