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| Disease found: | Acute Hepatic Porphyria |
| Current as of: | October 8, 2024 |
| Disease Overview: | Acute Hepatic Porphyria is a rare genetic disease affecting the heme synthesis pathway. [more] |
| Signs and Symptoms: | Abdominal pain, central and autonomic nervous system abnormalities, peripheral neuropathy, skin blisters/rashes, nausea, vomiting, IBS-like symptoms, Iron Deficiency Anemia, pregnancy complications, menstrual cycle abnormalities. [more] |
| Diagnosis: | Definitive diagnosis via genetic testing panels available for free here: Urine tests during an acute attack. |
| Treatment: | IV hematin, supportive treatment. Preventative: Givlaari/Givosiran. Available for free for certain patients here. FYI: 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] |
| Clinical Management: | Adverse effects of these medications may be more common in this disease due to CYP450 utilization overload. |
| Referral: | Gastroenterology: 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: | Find current clinical trials here. |