Variegate Porphyria Follow-up

  • Author: Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Sep 1, 2011
 

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.

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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.

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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.

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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.

Six cases of variegate porphyria with hepatocellular carcinoma (a known complication of acute intermittent porphyria) discovered at ages ranging from 54-81 years were recently reviewed.[35] One patient had no symptoms of porphyria prior to diagnosis of the cancer. Annual screening for hepatocellular carcinoma in patients with any acute porphyria, and of asymptomatic carriers of mutations for these disorders, by hepatic ultrasound and serum α-fetoprotein studies beginning age 47 years is now performed by these authors.[35]

Patients with acute porphyrias may be subject to attacks during pregnancy,[36, 37] but these are infrequent and most often brought on by inadvertent use of unsafe medications.[37, 38] In patients in whom acute symptoms occur during pregnancy, management recommendations follow the same outlines as for nonpregnant women, including the use of an intravenous heme analogue if necessary.[38]

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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.

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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.

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Contributor Information and Disclosures
Author

Maureen B Poh-Fitzpatrick, MD  Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons; Professor of Medicine (Dermatology), University of Tennessee Health Science Center College of Medicine

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; Clinuvel Pharmaceuticals, Ltd. Honoraria Consulting

Specialty Editor Board

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.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster 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.

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: Nothing to disclose.

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 Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

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