Acute intermittent porphyria
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Table of contents
Overview
Porphyria is a group of inherited disorders that affect the biosynthesis of hemem in the body. Hem is essential for red blood cells to carry oxygen. Deficiencies occur in certain enzymes that lead to the accumulation of substances called porphyrins and porphyrin precursors.
Acute hepatic porphyria causes acute attacks, unpleasant symptoms that usually develop rapidly and last for a relatively short time. They are rare and are associated with a nonspecific clinical presentation, making diagnosis difficult.
Experts have identified three main types of acute porphyria and one extremely rare type, all of which are genetically inherited:
- Acute intermittent porphyria
- Variegate porphyria
- Hereditary coporphyria
- Aminolevulinate dehydratase deficiency porphyria
Most people with acute porphyria never develop health problems, but about one in five people experience an attack of symptoms. Women are more likely to have an attack than men, and the most common age for attacks is between the late teens and early 40s.
What happens during an attack?
Acute attacks almost always begin with severe unexplained pain, usually in the abdomen but sometimes in the back or thighs. Nausea, vomiting and constipation are also common. Acute porphyria can also affect the nervous system and cause numbness and muscle weakness. This can even occur in the chest wall, which in turn can lead to breathing difficulties.
These symptoms can become very serious and even life-threatening if early intervention is not taken, so it is vital to consult a doctor as soon as an attack begins.
Many acute seizures are triggered by avoidable causes, such as alcohol, medications and low-calorie diets. Variations in hormone levels are also a common factor, causing women to have more frequent attacks than men.
With appropriate drug treatment, the progression of acute porphyria can be halted or symptoms reduced.
For more information on the list of safe drugs, visit www.drugs-porphyria.org
Recordati Rare Diseases supports the European Porphyria Network in developing information for patients and families.
Recordati Rare Diseases has also supported the development of information for patients and their families.
