Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP)

What is Acute Hepatic Porphyria/ Acute Intermittent Porphyria (AIP)?
AIP is a rare form of Porphyria characterized by an enzyme deficiency in the liver. Porphyria refers to a group of disorders which result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin, which binds iron and carries oxygen to organs and tissues. More information about AIP may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/5732/acute-intermittent-porphyria

What is the prevalence of AIP?
The prevalence of AIP is approximately 5 per 100,000 in the United States.

How is AIP diagnosed?
A diagnosis of AIP can be difficult because most symptoms are nonspecific and occur episodically. A diagnosis is usually based upon identification of characteristic symptoms from a detailed patient history, a thorough clinical evaluation and certain specialized tests.

Is there any specific gene/pathway in AIP that has been identified?
Molecular genetic testing to detect a mutation in the HMBS gene is necessary for diagnosis of AIP.

How is AIP treated?
Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen symptoms, treating present infections and administering pain medication. More information on treatment may be found here: https://rarediseases.org/rare-diseases/acute-intermittent-porphyria/

Are there any clinical trials underway for AIP?
The National Institutes of Health (NIH) has completed 7 clinical trials for Acute Hepatic Porphyria. Currently, there are 3 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Acute+Hepatic+Porphyria&term=&cntry=&state=&city=&dist=

How can RareShare be helpful to AIP patients and families?
The AIP Rareshare community has 12 members. There are currently 7 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in AIP and provide them continual access to community resources.