eMedicine Specialties > Hematology > Heme Synthesis and Disorders

Porphyria, Acute Intermittent: Treatment & Medication

Author: Thomas G DeLoughery, MD, Professor of Medicine and Pathology, Divisions of Hematology/Oncology and Laboratory Medicine, Associate Director, Department of Transfusion Medicine, Division of Clinical Pathology, Oregon Health Sciences University
Contributor Information and Disclosures

Updated: Aug 5, 2009

Treatment

Medical Care

  • The treatment goal for acute attacks of porphyria is to decrease heme synthesis and reduce the production of porphyrin precursors.
    • High doses of glucose (400 g/d) can inhibit heme synthesis and are useful for treatment of mild attacks.
    • People experiencing severe attacks, especially those with severe neurologic symptoms, should be treated with hematin in a dose of 4 mg/kg/d for 4 days.
  • Pain control is best achieved with narcotics. Laxatives and stool softeners should be administered with the narcotics to avert exacerbating existing constipation.
  • Treat seizures with Neurontin. Most classic antiseizure medicines can lead to acute porphyria attacks.

Diet

  • The patient should receive a high-carbohydrate diet during the attack. If the patient is unable to eat, intravenous glucose should be administered.
  • Between attacks, eating a balanced diet is more important than eating one rich in glucose.

Medication

The goals of pharmacotherapy are to reduce morbidity and to prevent complications.

Blood products

The key step in treatment of porphyria is to stop heme synthesis.


Hemin (Panhematin)

Provides negative feedback to the heme synthetic pathway and shuts down productions of porphyrins and porphyrin precursors.

Adult

4 mg/kg/d IV for 4 d
For severe attacks: 4 mg/kg IV q12h until symptoms abate

Pediatric

Not established

May further increase effects of anticoagulants

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Can lead to intense thrombophlebitis; should be administered through central catheter or PICC line; attacks of porphyria may progress to irreversible neuronal damage; may prevent an attack from causing neuronal degeneration; not effective in repairing neuronal damage; asymptomatic and reversible renal shutdown, oliguria, and increased nitrogen retention have occurred; no worsening of renal function has been observed with recommended dosages

More on Porphyria, Acute Intermittent

Overview: Porphyria, Acute Intermittent
Differential Diagnoses & Workup: Porphyria, Acute Intermittent
Treatment & Medication: Porphyria, Acute Intermittent
Follow-up: Porphyria, Acute Intermittent
References
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References

  1. Whatley SD, Mason NG, Woolf JR, et al. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem. Jul 2009;55(7):1406-14. [Medline].

  2. Delaby C, To-Figueras J, Deybach JC, et al. Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients. J Intern Med. Apr 23 2009;epub ahead of print. [Medline].

  3. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. Mar 15 2005;142(6):439-50. [Medline].

  4. Bonkovsky HL, Barnard GF. Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. Semin Liver Dis. 1998;18(1):57-65. [Medline].

  5. Bylesjo I, Wikberg A, Andersson C. Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study. Scand J Clin Lab Invest. Apr 28 2009;1-7. [Medline].

  6. Daniell WE, Stockbridge HL, Labbe RF, et al. Environmental chemical exposures and disturbances of heme synthesis. Environ Health Perspect. Feb 1997;105 Suppl 1:37-53. [Medline].

  7. Elder GH, Smith SG, Smyth SJ. Laboratory investigation of the porphyrias. Ann Clin Biochem. Sep 1990;27 ( Pt 5):395-412. [Medline].

  8. Gill R, Kolstoe SE, Mohammed F, et al. Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria. Biochem J. Apr 28 2009;420(1):17-25. [Medline].

  9. Gorchein A. Drug treatment in acute porphyria. Br J Clin Pharmacol. Nov 1997;44(5):427-34. [Medline].

  10. Hahn M, Bonkovsky HL. Multiple chemical sensitivity syndrome and porphyria. A note of caution and concern. Arch Intern Med. Feb 10 1997;157(3):281-5. [Medline].

  11. Kalman DR, Bonkovsky HL. Management of acute attacks in the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):299-306. [Medline].

  12. Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). Jan 1992;71(1):1-13. [Medline].

  13. Laiwah AC, McColl KE. Management of attacks of acute porphyria. Drugs. Nov 1987;34(5):604-16. [Medline].

  14. Massey EW. Neuropsychiatric manifestations of porphyria. J Clin Psychiatry. Jun 1980;41(6):208-13. [Medline].

  15. Mattern SE, Tefferi A. Acute porphyria: the cost of suspicion. Am J Med. Dec 1999;107(6):621-3. [Medline].

  16. Moore MR. The biochemistry of heme synthesis in porphyria and in the porphyrinurias. Clin Dermatol. Mar-Apr 1998;16(2):203-23. [Medline].

  17. Murphy GM. The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol. Apr 1999;140(4):573-81. [Medline].

  18. Peters TJ, Sarkany R. Porphyria for the general physician. Clin Med. May-Jun 2005;5(3):275-81. [Medline].

  19. Poh-Fitzpatrick MB. Clinical features of the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):251-64. [Medline].

  20. Tefferi A, Colgan JP, Solberg LA Jr. Acute porphyrias: diagnosis and management. Mayo Clin Proc. Oct 1994;69(10):991-5. [Medline].

  21. Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):277-93. [Medline].

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Further Reading

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Keywords

acute intermittent porphyria, AIP, defects in heme metabolism, increased secretion of porphobilinogen, abdominal pain, psychiatric problems, hysteria, peripheral neuropathies, abdominal pain, neuropathy, constipation

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Contributor Information and Disclosures

Author

Thomas G DeLoughery, MD, Professor of Medicine and Pathology, Divisions of Hematology/Oncology and Laboratory Medicine, Associate Director, Department of Transfusion Medicine, Division of Clinical Pathology, Oregon Health Sciences University
Thomas G DeLoughery, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American College of Physicians, American Society of Hematology, International Society on Thrombosis and Haemostasis, and Wilderness Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Clarence Sarkodee-Adoo, MD, Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Marcel E Conrad, MD, (Retired) Distinguished Professor of Medicine, University of South Alabama
Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, and Southwest Oncology Group
Disclosure: No financial interests None None

CME Editor

Rajalaxmi McKenna, MD, FACP, Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems
Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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