Acute intermittent porphyria

Symptoms

What are the main symptoms of acute intermittent porphyria?

The main symptom of acute intermittent porphyria (AIP) is severe stomach pain. The pain may be in the back or thighs as well. People with AIP can also have nausea, vomiting, fast heart rate, and high blood pressure. There can also be hyponatremia (low sodium levels), seizures, difficulty breathing, and changes in mental status. Mental changes in attacks of acute intermittent porphyria can include insomnia or difficulty sleeping, anxiety, depression, hallucinations, confusion, paranoia, and amnesia or memory loss. The urine of a person having an attack of AIP may be reddish-brown or red, but this does not happen to everyone. These symptoms may last several days or longer if treatment is not received right away.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
  • Acute intermittent porphyria. Genetic and Rare Diseases Information Center(https://rarediseases.info.nih.gov/gard/5732/acute-intermittent-porphyria/resources/9)
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Are there earlier onset, later onset, or variant forms of acute intermittent porphyria?

Do any other diseases that look a lot like acute intermittent porphyria?

Are there one or two characteristic odd or unusual symptoms or clinical features of acute intermittent porphyria?

Is penetrance for HMBS known?

Are there other health problems that accompany acute intermittent porphyria?

Are there earlier onset, later onset, or variant forms of acute intermittent porphyria?

Attacks of acute intermittent porphyria very rarely happen in children. Most people don't have an attack until after puberty.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
Do any other diseases that look a lot like acute intermittent porphyria?

There are other types of porphyrias that have the same symptoms of acute intermittent porphyria. It is sometimes impossible to tell which type of porphyria a person has based on their symptoms alone. These other porphyrias are: hereditary coproporphyria, variegate porphyria, and ALAD deficiency porphyria. Lead poisoning can also have similar symptoms to acute intermittent porphyria. However, lead poisoning causes a decrease in the number of blood cells (anemia), which is not seen in acute intermittent porphyria. The red color of the urine sometimes seen in acute intermittent porphyria attacks can also be due to blood in the urine, eating red beets, eating foods with certain additives, and some drugs.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Are there one or two characteristic odd or unusual symptoms or clinical features of acute intermittent porphyria?

Some people having an attack of acute intermittent porphyria may have reddish-brown or red urine (especially if the urine is exposed to air and light). Even if the urine is not discolored, all people having an attack of acute intermittent porphyria will have high levels of porphobilinogen (PBG) in their urine (often 10 to 20 times higher than normal). Your doctor can test for this if you think you are having an attack.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Is penetrance for HMBS known?

Penetrance for HMBS (the gene that causes acute intermittent porphyria) is not completely known. Most experienced porphyria specialists say the penetrance of HMBS changes is 10-20%. This means that only 10-20% of people with changes in HMBS will experience symptoms in their life. In other words 80-90% of people with the condition will not have symptoms. However, studies of entire populations suggest the penetrance might be as low as 1%. Therefore, the exact penetrance is controversial.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Are there other health problems that accompany acute intermittent porphyria?

People with acute intermittent porphyria may have long-term health problems like kidney failure, liver cancer, and high blood pressure. Liver cancer usually appears after age 54.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)

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