Acute intermittent porphyria: Difference between revisions

Latest revision as of 12:27, 2 August 2020

Background

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 Manifestations

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

Investigations

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

Management

Acute

Stop offending medication, start high carbohydrate diet
Sometimes hematin
If seizures: gabapentin or levetiracetam

Chronic

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

@@ Line 1: / Line 1: @@
-== 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 Presentation ==
+==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 &amp; 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]]