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| ==Background==
| | #REDIRECT[[Porphyria]] |
| *Related to defect(s) in heme synthesis causing a buildup of porphyrins
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| *Autosomal dominant, but poor penetrance
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| ==Clinical Features==
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| *Hallmark is abdominal pain with otherwise negative workup
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| *May develop neurological symptoms - paresthesias, weakness. May progress to bulbar involvement and need for respiratory support/intubation.
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| ==Triggers==
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| *Infection, metabolic stress
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| *Carbohydrate deficiency
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| *Tobacco, EtOH
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| ==Diagnosis==
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| *Unlikely to diagnose first episode in ED given rarity of disease
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| *Can check spot urine porphobilinogen (PBG) - sendout at most hospitals
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| ==Management==
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| *Analgesia
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| *Avoid offending meds
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| **Most seizure meds contraindicated. [[Benzodiazepines]], [[gabapentin]], [[levetiracetam]], and [[vigabatrin]] OK
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| **Avoid [[reglan]]
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| *Glucose load
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| **Decreases porphyrin production
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| **Typical protocol is D10W 3-4 liters daily x 4 days
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| **Risk of hyponatremia given significant free water load
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| *Hemin
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| **Decreases porphyrin production, significantly more potent than glucose
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| **Recommended for most cases requiring hospitalization, or any with neurologic symptoms
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| **3-4 mg/kg daily for 4 days
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| **Can cause significant infusion site phlebitis - minimize by reconstituting in 25% albumin; consider central venous administration
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| **Very expensive - around $8000 per 313 mg vial
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| ==Disposition==
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| *Admit all but very minor attacks
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| ==See Also==
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| ==External Links==
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| http://www.porphyriafoundation.com/
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| ==References==
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| <references/>
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| [[Category:Heme/Onc]]
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