Acute intermittent porphyria: Difference between revisions
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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 |
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== Clinical |
== Clinical Manifestations == |
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=== History === |
=== History === |
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Revision as of 01:33, 14 July 2020
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
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
