eMedicine Specialties > Hematology > Heme Synthesis and Disorders

Porphyria, Acute Intermittent: Follow-up

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

Follow-up

Further Inpatient Care

[#hepmkrs]Due to the fact that clinical manifestations of acute intermittent porphyria (AIP) include abdominal pain, neurovisceral symptoms, and overproduction of long-lasting heme-precursors in the liver, Delaby et al assessed the possible role of hepatic protein changes with AIP.2 The investigators found most of the analyzed serum hepatic proteins known to be affected by conditions such as malnutrition, inflammation, or liver disease were within reference ranges; however, insulin-like growth factor 1 (IGF-1) was decreased in 53.8% of AIP patients and transthyretin (prealbumin) was found significantly decreased in 38.5% of patients.2 In addition, the coincident decrease of both IGF-1 and transthyretin was associated with a worsening clinical condition.

Thus, Delaby et al suggest that clinical expression of AIP is associated with a state of malnutrition and/or with hepatic inflammation and propose the use of IGF-1 and transthyretin for clinical assessment and follow-up of AIP patients.2

  • Patients with severe attacks should be admitted for close monitoring.
  • Patients with paralysis should be monitored for signs of respiratory compromise.

Further Outpatient Care

  • Patients with recurrent attacks may benefit from a program of chronic hematin infusion. For example, women with severe symptoms at the time of their menses can have a dose of 4 mg/kg before the onset of their period.

Deterrence/Prevention

  • Avoid medicines that can provoke an attack. Lists of medicines to avoid are available, although only a few of these have been clearly implicated in porphyria.
  • Avoid excessive alcohol consumption.
  • Avoid fasting.

Prognosis

  • Most patients (60-80%) who have an acute attack of porphyria never have another one.
  • Avoidance of precipitating factors helps prevent attacks.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to order urine porphyrins is a common error in diagnosing AIP. Porphobilinogen, a porphyrin precursor, usually is not included in a urine porphyrin screen and must be ordered specially.
 


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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