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Acute Porphyria Emergency Reminders

THE PORPHYRIA RESEARCH CONSORTIUM of the Rare Disease Clinical Research Network of the NIH As a reminder, the Porphyria Research Consortium is a team of experts who are conducting the major life saving research for all of us. Dr. Montgomery Bissell, University of California, San Francisco; Dr. Karl Anderson, University of Texas Medical Branch; Dr. John Phillips,University of Utah; Dr. Herbert Bonkovsky, University of North Carolina; Dr. Joseph Bloomer, University of Alabama and Dr. Robert Desnick, Mount Sinai School of Medicine. Desnick Bloomer Anderson Phillips Bonkovsky Bissell Research volunteers are needed for all types of porphyria, including a research project for a new Alnylam treatment for the acute porphyrias. It only takes one day out of your life, please call the APF office asap and become a Medical Hero. 

YOU are the KEY because RESEARCH IS THE KEY TO YOUR CURE. Call the APF 1.866 APF.3635 EMERGENCY ROOM GUIDELINES KEY POINTS The APF website has an Emergency Room Guidelines section on acute porphyrias designed for primary care and emergency room physicians.

 The following Key Points are essential for diagnosis and treatment: 1. The human porphyrias are clinical disorders reflecting defects in heme biosynthesis. 2. Acute porphyrias cause acute attacks of neurological symptoms that can be life-threatening. 3. Acute attacks are triggered by certain drugs, sex steroid hormones, reduced intake of calories and carbohydrate, alcohol and unknown factors. 4. Many of these factors stimulate heme synthesis in the liver, which in the face of a metabolic enzyme defect, leads to increased production of heme precursors that may be neurotoxic. 5. Delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), are porphyrin precursors and intermediates in the heme biosynthetic pathway. 6. ALA and porphobilinogen (PBG) are almost always elevated in urine during an acute attack of porphyria. 7. The most common emergency room (ER) clinical presentation is acute abdominal pain. Other features may include seizures, confusion and hallucinations, and a progressive polyaxonal motor neuropathy, which can progress to paralysis and respiratory failure requiring a ventilator. 8. A high index of suspicion in the presence of nonspecific symptoms is important for diagnosis. A family history of porphyria, female sex, onset during the luteal phase of the menstrual cycle, or recent use of a porphyrinogenic drug may be diagnostic clues. 9. A new diagnosis of porphyria as the cause of acute symptoms must be substantiated by finding a substantial increase in urine porphobilinogen (PBG). 10. Treatment should start promptly after the diagnosis is made. Mild attacks are sometimes treated with glucose loading (e.g. 3L of 10% glucose daily by vein). 11. Most acute attacks should be treated with hemin (Panhematin®), Recordati Rare Diseaes at: or 866-654-0539; 3-4mg/kg into a large peripheral vein or venous access port daily for 4 days.
 Reconstituting Panhematin® with human serum albumin rather than sterile water is recommended prior to infusion. This helps prevent phlebitis at the site of intravenous infusion. 12. Hospitalization is usually required for symptomatic treatment of pain, nausea and vomiting.

                                   "Remember....Research is the key to your cure!"


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