Acute intermittent porphyria: Difference between revisions
(Redirected page to Porphyria) |
Nathanliu91 (talk | contribs) (Added background, triggers, clinical features, evaluation, and review videos) Tag: Removed redirect |
||
| Line 1: | Line 1: | ||
# | ==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 DDX}} | |||
==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== | |||
==Disposition== | |||
==See Also== | |||
*[[Abdominal pain]] | |||
==References== | |||
==Video== | |||
{{#widget:YouTube|id=VQHz0Qu-OjA}} | |||
[[Category:Heme/Onc]] | |||
Revision as of 15:53, 11 March 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
Disposition
See Also
References
Video
{{#widget:YouTube|id=VQHz0Qu-OjA}}