Acute intermittent porphyria: Difference between revisions
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*Analgesia | *Analgesia | ||
*Avoid offending meds | *Avoid offending meds | ||
**Most seizure meds contraindicated. [[Benzodiazepines]], [[gabapentin]], and vigabatrin OK | **Most seizure meds contraindicated. [[Benzodiazepines]], [[gabapentin]], and [[vigabatrin]] OK | ||
*Glucose load | *Glucose load | ||
**Decreases porphyrin production | **Decreases porphyrin production | ||
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**Can cause significant infusion site phlebitis - minimize by reconstituting in 25% albumin; consider central venous administration | **Can cause significant infusion site phlebitis - minimize by reconstituting in 25% albumin; consider central venous administration | ||
**Very expensive - around $8000 per 313 mg vial | **Very expensive - around $8000 per 313 mg vial | ||
==Disposition== | ==Disposition== | ||
Revision as of 22:11, 23 September 2015
Background
- Related to defect(s) in heme synthesis causing a buildup of porphyrins
- Autosomal dominant, but poor penetrance
Clinical Features
Differential Diagnosis
Triggers
- Tobacco, EtOH
Diagnosis
- Unlikely to diagnose first episode in ED given rarity of disease
- Can check spot urine porphobilinogen (PBG) - sendout at most hospitals
Management
- Analgesia
- Avoid offending meds
- Most seizure meds contraindicated. Benzodiazepines, gabapentin, and vigabatrin OK
- Glucose load
- Decreases porphyrin production
- Typical protocol is D10W 3-4 liters daily x 4 days
- Risk of hyponatremia given significant free water load
- Hemin
- Decreases porphyrin production, significantly more potent than glucose
- Recommended for most cases requiring hospitalization, or any with neurologic symptoms
- 3-4 mg/kg daily for 4 days
- Can cause significant infusion site phlebitis - minimize by reconstituting in 25% albumin; consider central venous administration
- Very expensive - around $8000 per 313 mg vial
Disposition
See Also
External Links
http://www.porphyriafoundation.com/