Diferencia entre revisiones de «Acute intermittent porphyria»
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*Hallmark is abdominal pain with otherwise negative workup | *Hallmark is abdominal pain with otherwise negative workup | ||
*May develop neurological symptoms - paresthesias, weakness. May progress to bulbar involvement and need for respiratory support/intubation. | *May develop neurological symptoms - paresthesias, weakness. May progress to bulbar involvement and need for respiratory support/intubation. | ||
==Triggers== | ==Triggers== | ||
| Línea 17: | Línea 15: | ||
*Unlikely to diagnose first episode in ED given rarity of disease | *Unlikely to diagnose first episode in ED given rarity of disease | ||
*Can check spot urine porphobilinogen (PBG) - sendout at most hospitals | *Can check spot urine porphobilinogen (PBG) - sendout at most hospitals | ||
==Management== | ==Management== | ||
*Analgesia | *Analgesia | ||
Revisión del 17:53 25 sep 2015
Background
- Related to defect(s) in heme synthesis causing a buildup of porphyrins
- Autosomal dominant, but poor penetrance
Clinical Features
- Hallmark is abdominal pain with otherwise negative workup
- May develop neurological symptoms - paresthesias, weakness. May progress to bulbar involvement and need for respiratory support/intubation.
Triggers
- Infection, metabolic stress
- Carbohydrate deficiency
- 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, levetiracetam, and vigabatrin OK
- Avoid reglan
- 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
- Admit all but very minor attacks
See Also
External Links
http://www.porphyriafoundation.com/