Acute intermittent porphyria - Revision history

Aidan at 12:27, 2 August 2020

2020-08-02T12:27:52Z

← Older revision		Revision as of 12:27, 2 August 2020
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	== ~~Definition~~ ==		== Background ==

			===Definition===
⚫	* Autosomal dominant mutation in HMB synthase with variable penetrance causing intermittent attacks characterized by neurovisceral symptoms

		⚫	*Autosomal dominant mutation in HMB synthase with variable penetrance causing intermittent attacks characterized by neurovisceral symptoms
⚫	== Etiology ==

		⚫	===Etiology===
⚫	* Defect in heme synthesis; specifically, in HMB synthase (hydroxymethylbilane synthase; porphobilinogen deaminase), which causes build-up of porphobilinogen

		⚫	*Defect in heme synthesis; specifically, in HMB synthase (hydroxymethylbilane synthase; porphobilinogen deaminase), which causes build-up of porphobilinogen
⚫	== Clinical Manifestations ==

		⚫	==Clinical Manifestations==
	=== History ===

	* Prodromal symptoms, including restlessness		*Prodromal symptoms, including restlessness
	* Neurovisceral symptoms, including abdominal pain, tachycardia, constipation, psychosis, seizures, paralysis		*Neurovisceral symptoms, including abdominal pain, tachycardia, constipation, psychosis, seizures, paralysis
		⚫	*Red-brown urine

		⚫	==Investigations==
	=== Signs & Symptoms ===

		⚫	*Electrolytes: may show hyponatremia or other abnormalities
⚫	* Red-brown urine
		⚫	*'''Urine porphyrins (PBG)'''

		⚫	==Management==
⚫	== Investigations ==

			===Acute===
⚫	* Electrolytes: may show hyponatremia or other abnormalities
⚫	* '''Urine porphyrins (PBG)'''

		⚫	*Stop offending medication, start high carbohydrate diet
⚫	== Management ==
		⚫	*Sometimes [[hematin]]
		⚫	*If seizures: [[gabapentin]] or [[levetiracetam]]

	=== ~~Acute~~ ===		===Chronic===

		⚫	*Avoid triggers, including [http://porphyriadrugs.com/ drugs]
⚫	* Stop offending medication, start high ~~carb~~ diet
		⚫	*High-carbohydrate diet
⚫	* Sometimes hematin
		⚫	*Screen for [[cirrhosis]] and [[hepatocellular carcinoma]]
⚫	* If seizures: gabapentin or ~~levitiracetam~~

	=== Chronic ===

⚫	* Avoid triggers, including drugs
⚫	* High-~~carb~~ diet
⚫	* Screen for cirrhosis and hepatocellular carcinoma

	[[Category:Hematology]]		[[Category:Hematology]]

Aidan: Text replacement - "Clinical Presentation" to "Clinical Manifestations"

2020-07-14T01:33:45Z

Text replacement - "Clinical Presentation" to "Clinical Manifestations"

← Older revision		Revision as of 01:33, 14 July 2020
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	* Defect in heme synthesis; specifically, in HMB synthase (hydroxymethylbilane synthase; porphobilinogen deaminase), which causes build-up of porphobilinogen		* Defect in heme synthesis; specifically, in HMB synthase (hydroxymethylbilane synthase; porphobilinogen deaminase), which causes build-up of porphobilinogen

	== Clinical ~~Presentation~~ ==		== Clinical Manifestations ==

	=== History ===		=== History ===

Maintenance script: Imported from text file

2020-07-04T01:17:21Z

Imported from text file

New page

== Definition ==

* Autosomal dominant mutation in HMB synthase with variable penetrance causing intermittent attacks characterized by neurovisceral symptoms

== Etiology ==

* Defect in heme synthesis; specifically, in HMB synthase (hydroxymethylbilane synthase; porphobilinogen deaminase), which causes build-up of porphobilinogen

== Clinical Presentation ==

=== History ===

* Prodromal symptoms, including restlessness
* Neurovisceral symptoms, including abdominal pain, tachycardia, constipation, psychosis, seizures, paralysis

=== Signs & Symptoms ===

* Red-brown urine

== Investigations ==

* Electrolytes: may show hyponatremia or other abnormalities
* '''Urine porphyrins (PBG)'''

== Management ==

=== Acute ===

* Stop offending medication, start high carb diet
* Sometimes hematin
* If seizures: gabapentin or levitiracetam

=== Chronic ===

* Avoid triggers, including drugs
* High-carb diet
* Screen for cirrhosis and hepatocellular carcinoma

[[Category:Hematology]]
[[Category:Rheumatology]]