Diferencia entre revisiones de «Acute intermittent porphyria»
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==Background== | ==Background== | ||
*Related to defect(s) in heme synthesis causing a buildup of porphyrins | |||
*Autosomal dominant, but poor penetrance | |||
==Clinical Features== | ==Clinical Features== | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
==Triggers== | |||
*Tobacco, EtOH | |||
==Diagnosis== | ==Diagnosis== | ||
*Unlikely to diagnose first episode in ED given rarity of disease | |||
*Can check spot urine porphobilinogen (PBG) - sendout at most hospitals | |||
==Management== | ==Management== | ||
*Analgesia | *Analgesia | ||
*Avoid offending meds | |||
**Most seizure meds contraindicated. [[Benzodiazepines]], [[gabapentin]], and vigabatrin OK | |||
*Glucose load | *Glucose load | ||
**Decreases porphyrin production | **Decreases porphyrin production | ||
Revisión del 22:10 23 sep 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/