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Porphyria, Hereditary Coproporphyria: Differential Diagnoses & Workup

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: Nov 4, 2009

Differential Diagnoses

Abdominal Abscess
Fibromyalgia
Abdominal Angina
Gastric Outlet Obstruction
Abdominal Hernias
Gastritis, Acute
Acute Mesenteric Ischemia
Ileus
Addison Disease
Intestinal Pseudo-obstruction: Surgical Perspective
Adrenal Crisis
Megacolon, Chronic
ALA Dehydratase Deficiency Porphyria
Nerve Entrapment Syndromes
Biliary Colic
Pancreatitis, Acute
Biliary Disease
Pancreatitis, Chronic
Biliary Obstruction
Panic Disorder
Cholangitis
Pelvic Inflammatory Disease
Chronic Pelvic Pain
Porphyria, Acute Intermittent
Colonic Obstruction
Porphyria, Chester
Constipation
Sprue, Tropical
Delirium
Toxicity, Arsenic
Diverticulitis
Toxicity, Lead
Diverticulosis, Small Intestinal
Duodenal Ulcers

Other Problems to Be Considered

Back pain
Diverticulosis

Workup

Laboratory Studies

  • Stool coproporphyrins1
    • Physicians establish the diagnosis of coproporphyria by demonstrating excess secretion of coproporphyrins in the stool.
    • Stool coproporphyrins are markedly elevated, usually 10-200 times greater than control samples.
  • Urine coproporphyrins1
    • Urine porphyrins vary, but usually the urine coproporphyrins also are markedly elevated, especially during acute attacks of the disease. If patients are having neurovisceral symptoms, the urine porphobilinogen is elevated.5 Mild elevations of urine coproporphyrins (eg, as high as 2 times the reference range) are common and nonspecific.
    • Fasting, subtle liver disease, or normal variations are the most common causes of elevated urine coproporphyrins.
    • As noted above, patients who truly have symptoms due to coproporphyria have marked elevations of urine, and especially stool, coproporphyrins.
    • As with AIP, patients who are experiencing neurovisceral symptoms due to coproporphyria have elevations in urine porphobilinogen.
    • The most common diagnostic error in proporphyria is to label patients with mild elevations of urine coproporphyrins as having porphyria.
  • Other
    • Hyponatremia (syndrome of inappropriate secretion of antidiuretic hormone [SIADH]) and mild leukocytosis are other nonspecific signs during an AIP attack.
    • Although coproporphyria is caused by a defective enzyme, there is little use in measuring the activity of coproporphyrinogen oxidase. The vast majority of patients who have the defective enzyme do not have any symptoms of the disease. Furthermore, the only available clinical assay has been withdrawn due to problems with high rates of false-positive results. The diagnosis of a porphyria attack rests on demonstration of excessive excretion of porphyrins and porphyrin precursors.

Imaging Studies

  • Imaging studies are not helpful.
  • Abdominal films sometimes demonstrate an ileus.
  • Findings on cranial CT scans are normal.
  • Brain MRI scans occasionally show signs of increased edema in patients with very severe attacks.

More on Porphyria, Hereditary Coproporphyria

Overview: Porphyria, Hereditary Coproporphyria
Differential Diagnoses & Workup: Porphyria, Hereditary Coproporphyria
Treatment & Medication: Porphyria, Hereditary Coproporphyria
Follow-up: Porphyria, Hereditary Coproporphyria
References
Further Reading
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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. Ventura P, Cappellini MD, Rocchi E. The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Intern Emerg Med. Aug 2009;4(4):297-308. [Medline].

  3. Billoo AG, Lone SW. A family with acute intermittent porphyria. J Coll Physicians Surg Pak. May 2008;18(5):316-8. [Medline].

  4. Corrigall AV, Campbell JA, Siziba K, Kirsch RE, Meissner PN. The expression of protoporphyrinogen oxidase in human tissues. Cell Mol Biol (Noisy-le-grand). Jul 1 2009;55(2):89-95. [Medline].

  5. Roshal M, Turgeon J, Rainey PM. Rapid quantitative method using spin columns to measure porphobilinogen in urine. Clin Chem. Feb 2008;54(2):429-31. [Medline].

  6. Harper P, Wahlin S. Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. Curr Treat Options Gastroenterol. Dec 2007;10(6):444-55. [Medline].

  7. Anderson KE. The Porphyrias. In: Zakim D, Boyer TD, eds. Hepatology: A Textbook of Liver Disease. Philadelphia, Pa:. WB Saunders;1996:417-463.

  8. 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].

  9. Bickers DR, Pathak MA, Lim HW. The Porphyrias. In: Fitzpatrick B, et al, eds. Dermatology in General Medicine. New York, NY:. McGraw-Hill, Inc;1993:1854-1893.

  10. 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].

  11. 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].

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

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  14. 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].

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

  16. 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].

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

  18. Martasek P. Hereditary coproporphyria. Semin Liver Dis. 1998;18(1):25-32. [Medline].

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

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

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

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

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

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Keywords

hereditary coproporphyria, porphyria, heme, porphyrin, acute porphyria, porphyrias, acute intermittent porphyria, cutaneous porphyria, porphyria tarda

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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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