Acute intermittent porphyria - Revision history

ClaireLewis: Redirected page to Porphyria

2019-10-01T17:48:53Z

Redirected page to Porphyria

← Older revision		Revision as of 17:48, 1 October 2019
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	~~==Background==~~		#REDIRECT[[Porphyria]]
	*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<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==~~

	~~==See Also==~~
	*[[Abdominal pain]]
	*[[Porphyria]]

	~~==References==~~

	~~==Video==~~
	~~{{#widget:YouTube\|id=VQHz0Qu-OjA}}~~

	~~[[Category:Heme/Onc~~]]

ClaireLewis at 23:18, 30 September 2019

2019-09-30T23:18:05Z

← Older revision		Revision as of 23:18, 30 September 2019
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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==

Rossdonaldson1: /* See Also */

2019-04-05T04:18:07Z

Rossdonaldson1: /* See Also */

2019-04-05T04:17:49Z

Nathanliu91: Added background, triggers, clinical features, evaluation, and review videos

2019-03-11T15:53:50Z

Added background, triggers, clinical features, evaluation, and review videos

← Older revision		Revision as of 15:53, 11 March 2019
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	#~~REDIRECT~~[[~~Porphyria~~]]		==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]]

Rossdonaldson1: Redirected page to Porphyria

2016-05-11T12:19:38Z

Redirected page to Porphyria

← Older revision		Revision as of 12:19, 11 May 2016
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	~~==Background==~~		#REDIRECT[[Porphyria]]
	*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/~~

	~~==References==~~
	~~<references/>~~

	~~[[Category:Heme/Onc~~]]

Cchoff at 02:22, 17 October 2015

2015-10-17T02:22:26Z

← Older revision		Revision as of 02:22, 17 October 2015
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	==References==		==References==
	<references/>		<references/>

			[[Category:Heme/Onc]]

Carpenj at 17:53, 25 September 2015

2015-09-25T17:53:22Z

← Older revision		Revision as of 17:53, 25 September 2015
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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.

	~~==Differential Diagnosis==~~

	==Triggers==		==Triggers==
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	*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

Carpenj: /* Clinical Features */

2015-09-23T22:22:09Z

Clinical Features

← Older revision		Revision as of 22:22, 23 September 2015
Line 4:		Line 4:

	==Clinical Features==		==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.

	==Differential Diagnosis==		==Differential Diagnosis==

Carpenj: /* Disposition */

2015-09-23T22:18:26Z

Disposition

← Older revision		Revision as of 22:18, 23 September 2015
Line 32:		Line 32:

	==Disposition==		==Disposition==
			*Admit all but very minor attacks

	==See Also==		==See Also==

← Older revision		Revision as of 04:18, 5 April 2019
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	==See Also==		==See Also==
	*[[Abdominal pain]]		*[[Abdominal pain]]
	*[[~~Acute intermittent porphyria~~]]		*[[Porphyria]]

	==References==		==References==

← Older revision		Revision as of 04:17, 5 April 2019
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	==See Also==		==See Also==
	*[[Abdominal pain]]		*[[Abdominal pain]]
			*[[Acute intermittent porphyria]]

	==References==		==References==