Acute intermittent porphyria: Difference between revisions
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===Triggers=== | ===Triggers=== | ||
*Infection | *[[Infection]] | ||
*Metabolic stress and starvation | *Metabolic stress and starvation | ||
*[[ETOH]] | *[[ETOH]] | ||
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**Acute [[abdominal pain]] (85-90% of attacks) | **Acute [[abdominal pain]] (85-90% of attacks) | ||
**Port wine-colored urine | **Port wine-colored urine | ||
**Agitation, confusion, combativeness, seizure | **[[Agitation]], [[confusion]], combativeness, [[seizure]] | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
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*Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation. | *Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation. | ||
==Management== | ==Management<ref>https://emedicine.medscape.com/article/205220-treatment</ref>== | ||
*Goal to decrease heme synthesis and reduce production of porphyrin precursors | |||
*High doses of glucose, e.g. [[dextrose|D5]]NS at 2L/hr x 24h | |||
**Avoid D5W or D10W as may aggravate [[hyponatremia]] | |||
*Severe attacks, especially with severe neuro symptoms: hematin 4mg/kg/d x 4d | |||
==Disposition== | ==Disposition== | ||
Revision as of 23:18, 30 September 2019
Background
- Acute Intermittent Porphyria is a disorder caused by the inability to produce heme, a component of hemoglobin in red blood cells.
- The defective enzyme is porphobilinogen deaminase.
- Patients typically present with dark urine, abdominal pain, and psychiatric disturbances
Triggers
- Infection
- Metabolic stress and starvation
- ETOH
- CYP450 Inducers: sulfonamides, barbiturates, rifampin or metoclopramide
Clinical Features
- Gastrointestinal symptoms
- Acute abdominal pain (85-90% of attacks)
- Port wine-colored urine
- Agitation, confusion, combativeness, seizure
Differential Diagnosis
Extra-abdominal Sources of Abdominal pain
- MI
- Aortic Dissection
- PNA
- PE
- Testicular Torsion
- Herpes Zoster
- Muscle spasm
- Spinal pathology
- Strep Pharyngitis (peds)
- Mononucleosis
- DKA
- ETOH Ketoacidosis
- Uremia
- Sickle Cell Crisis
- SLE
- Vasculitis
- Glaucoma
- Hyperthyroidism
- Methanol Poisoning
- Heavy Metal toxicity
- Addison's disease
- Porphyria
- Paroxysmal nocturnal hemoglobinuria
- Black widow spider bite
Evaluation
Consider porphyria in patients with abdominal pain that is unexplained after an initial workup has excluded common causes (appendicitis, cholecystitis, pancreatitis, etc).
- Spot urinary porphobilinogen (sendout at most hospitals)
- Normal = 0-4mg/day
- acute attack, spot urine can be 20-200mg/L
- Recurrent attacks in a patient with proven acute porphyria are usually similar and can be diagnosed on clinical grounds without biochemical reconfirmation.
Management[1]
- Goal to decrease heme synthesis and reduce production of porphyrin precursors
- High doses of glucose, e.g. D5NS at 2L/hr x 24h
- Avoid D5W or D10W as may aggravate hyponatremia
- Severe attacks, especially with severe neuro symptoms: hematin 4mg/kg/d x 4d
Disposition
See Also
References
Video
{{#widget:YouTube|id=VQHz0Qu-OjA}}