Acute intermittent porphyria causes abdominal pain, nausea, vomiting and fatigue and went viral after Phoenix Nightingale’s story
There porphyria is part of a group of rare metabolic diseases characterized by a malfunction of one of the eight enzymes involved in the production of hemea fundamental component of hemoglobin, the protein that transports oxygen in the blood.
This enzymatic defect leads to the accumulation of toxic substancescausing symptoms that vary depending on the type of porphyria and the affected organ. Clinical manifestations can be acute or chronic and involve the nervous system, the liver or the skin.
One of the best known forms is the intermittent porphyria acutewhich can cause neurovisceral symptoms such as abdominal pain, nausea, vomiting and fatigue. Some forms of porphyria, such as porphyria cutaneatata and protoporphyria, cause strong photosensitivity.
This condition, which makes patients extremely sensitive to sunlightis one of the reasons why porphyria is sometimes referred to as “vampire disease”. Patients affected by these forms can develop painful and itchy skin lesions after brief exposure to the sun. Furthermore, there is a related belief with garlic: Some porphyria patients report a hypersensitivity to this food.
The Tale of Phoenix Nightingale
But why are we talking about it and above all why has porphyria become so viral these days? The reason is to be found in the story of Phoenix Nightingalean American woman suffering from acute intermittent porphyria, who narrated her clinical story in an interview, explaining that garlic it can trigger serious attacks in you resulting in vomiting, neurological crises and breathing difficulties.
His situation is truly extreme, so much so he could risk his life if he ate garlic or any food that contains sulfur. Attacks are often violent and can last days. In the case of Phoenix, these are cases of vomitfor up to 60 times per episode, and difficulty respiratory.
Although one might think of a certain irony in the comparison with Dracula, there is very little to laugh about. The neurological side effects may in fact lead others to think that people suffer from this condition were monsters or possessed. A belief that only worsens their clinical situation and which, in addition to making them suffer from a health point of view, risks isolating them and having them labeled as “crazy”.
Despite the rarity of the disease, in Italy it is estimated that approximately 2,000 people are affected. The Italian Porphyria Group (GrIP) works to raise awareness of the diagnosis and management of porphyrias, offering support to patients and training for doctors. Likewise Phoenix, who suffered for years before receiving a diagnosis, hopes his story can help improve the understanding and treatment of these rare diseases.
