eMedicine Specialties > Dermatology > Metabolic Diseases

Variegate Porphyria: Follow-up

Author: Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
Contributor Information and Disclosures

Updated: Feb 18, 2009

Follow-up

Further Inpatient Care

  • Paralyses occurring during acute attacks that do not remit promptly with treatment may persist for long periods or improve incrementally over months. Lengthy rehabilitation therapy programs may be needed.
  • Attacks progressing to neuropathic phases are best handled in an intensive care setting until crises are stabilized and recovery ensured.

Further Outpatient Care

  • Individuals with a confirmed diagnosis of variegate porphyria should be instructed that if they sense an impending attack (usually onset of abdominal discomfort that continues over several hours), they should discontinue medication (especially any new drug), consume a source of glucose, and contact their physician immediately. Screening test results for urinary porphyrins and porphobilinogen should be obtained promptly, and the patient's condition should be monitored. Even if test results do confirm a porphyric attack, if symptoms do not worsen, fluids and carbohydrates can be taken orally; if vomiting does not ensue, conservative management may be continued in an outpatient setting. Otherwise, hospital admission is indicated.

Deterrence/Prevention

  • Patients must avoid use of hazardous drugs. Patients should also avoid carbohydrate-restricted diets and limit alcohol intake and smoking. Although steroid hormonal fluctuations, infections, and other stressors may be less problematic in variegate porphyria than in acute intermittent porphyria, the possible association with porphyric attacks should be kept in mind.
  • Sun avoidance should be practiced by patients with photocutaneous symptoms of variegate porphyria. Sunblock creams containing physical sunscreen agents (titanium dioxide, zinc oxide) or sunless tanning creams or gels containing dihydroxyacetone that impart pigmentation to the stratum corneum may help, but these agents rarely provide complete relief.  Application of plastic film filters that exclude some of the offending wavelengths to car windows can be helpful, but this practice must conform with local motor vehicle safety regulations.
  • Avoidance of mechanical trauma to sun-exposed skin reduces the occurrence of blisters and erosions.

Complications

  • High levels of protoporphyrin in bile can lead to gallstone formation.
  • Surgical cholelithectomies or cholecystectomies must be performed with care to avoid anesthetics that can induce attacks.

Prognosis

  • Mild attacks of variegate porphyria may resolve within a few to several days with conservative management. Those that progress to vomiting or early signs of neuropathy usually respond to the administration of a heme analogue for 4 days. Profound attacks that are either unrecognized or inadequately treated early enough in the course may progress to long-term debility or death.

Patient Education

  • Patients need careful instruction about the nature of the disease and its genetic implications for their family members.
    • Up-to-date lists of safe and unsafe drugs should be provided to patients and their physicians.
    • Dietary instructions for maintaining adequate carbohydrate intake and for consuming a rapidly absorbed form of glucose at the first signs of an attack should be given.

Miscellaneous

Medicolegal Pitfalls

  • Misdiagnosis of symptomatic variegate porphyria as porphyria cutanea tarda may lead to inappropriate treatment with phlebotomy or antimalarial therapies that are ineffective. This may also lead to failure to advise patients correctly about avoiding inducers of life-threatening attacks. Establishment of a complete profile of porphyrins and porphyrin precursors present in urine, feces, and blood should enable diagnostic distinction in most cases.
 


More on Variegate Porphyria

Overview: Variegate Porphyria
Differential Diagnoses & Workup: Variegate Porphyria
Treatment & Medication: Variegate Porphyria
Follow-up: Variegate Porphyria
References
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References

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Further Reading

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Keywords

VP, porphyria variegata, South African porphyria, protocoproporphyria, mixed porphyria, porphyria cutanea tarda hereditaria, royal malady, porphyrin-heme metabolism, protoporphyrinogen oxidase, protoporphyrinogen oxidase gene

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Contributor Information and Disclosures

Author

Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and New York Academy of Medicine
Disclosure: Lundbeck, Inc. Honoraria Review panel membership

Medical Editor

David Woodley, MD, Co-Chair, Professor, Department of Medicine, Division of Dermatology, University of Southern California
David Woodley, MD is a member of the following medical societies: American Academy of Dermatology, American Association for the Advancement of Science, American College of Emergency Physicians, American College of Physicians, American Federation for Medical Research, American Society for Clinical Investigation, New York Academy of Medicine, Society for Investigative Dermatology, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Julia R Nunley, MD, Professor, Program Director, Dermatology Residency, Department of Dermatology, Virginia Commonwealth University Medical Center
Julia R Nunley, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Society of Nephrology, International Society of Nephrology, Medical Dermatology Society, Medical Society of Virginia, National Kidney Foundation, Phi Beta Kappa, and Women's Dermatologic Society
Disclosure: Johnson and Johnson stock holder dividends; Amgen stock holder dividends; Forest Lab, Inc stock holder dividends; Galaxo Smith Klein stock holder dividends; Covidien stock holder dividends; Novartis Grant/research funds Consulting; Biolex  sub-investigator

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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