PRIMARY CARE
Recommendation 1
Adverse effects of these medications may be more common in this disease due to CYP450 utilization overload.
Acute Hepatic Porphyria
Not Verified
Disease overview
Acute Hepatic Porphyria is a rare genetic disease affecting the heme synthesis pathway. [more]
Common symptoms
Abdominal paincentral and autonomic nervous system abnormalitiesperipheral neuropathyskin blisters/rashesnauseavomitingIBS-like symptomsIron Deficiency Anemiamenstrual cycle abnormalities.
WHEN TO SUSPECT
Recommendation 1
Definitive diagnosis via genetic testing panels available for free hereRecommendation 2
Urine tests during an acute attack.
HOW TO TEST
Recommendation 1
Definitive diagnosis via genetic testing panels available for free hereRecommendation 2
Urine tests during an acute attack.
TREATMENT
Recommendation 1
IV hematin, supportive treatment. PreventativeRecommendation 2
Givlaari/Givosiran. Available for free for certain patients here. FYIRecommendation 3
Possible adverse effects of certain medications due to CYP450 utilization overload. Requires annual screening for Hepatitis & HCC if over 60, hep vaccinations recommended, annual kidney function screen if on treatment. [more]
FURTHER SUPPORT
Recommendation 1
GastroenterologyRecommendation 2
Simon Beaven MD PhD, UCLA Pfleger Liver Institute, 200 Medical Plaza Driveway Suite 214, Los Angeles, CA, 90095, 310-794-7788, additional support at the American Porphyria Foundation. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
Find current clinical trials here.
Sources
https://www.ncbi.nlm.nih.gov/books/NBK537178/#:~:text=The%20acute%20hepatic%20porphyrias%20are%20described%20by%20neurological%20attacks%20(seizures,photosensitive%20blistering%20rash%20or%20hypertrichosis
Interested in learning more about Acute Hepatic Porphyria?
Follow to receive regular updates to the latest research development on this disease via email newsletter.