Acute intermittent porphyria causes abdominal pain, nausea, vomiting and fatigue and went viral after Phoenix Nightingale's story

Porphyrias are rare metabolic disorders characterized by defective activity of one of the eight enzymes involved in heme biosynthesis, an important constituent of hemoglobin-the protein transporting oxygen throughout the body in the circulation.

This enzymatic defect leads to the accumulation of toxic intermediates that cause symptoms depending on the type of porphyria and the involved organ. Manifestations may be acute or chronic and include nervous, hepatic, or cutaneous involvement.

Acute intermittent porphyria and photosensitivity

The most common form is acute intermittent porphyria, which can present with neurovisceral symptoms such as abdominal pain, nausea, vomiting, and fatigue. Other forms, including porphyria cutanea tarda and protoporphyria, cause intense photosensitivity.

This condition is one reason the disease is sometimes called the “vampire disease“, since a close relationship with the sun might be lethal. Patients with these types may develop painful, itching skin lesions after even short periods of sun exposure. Associated with garlic are the beliefs: some people with porphyria report hypersensitivity to this food.

The story of Phoenix Nightingale

But now, why porphyria is in the headlines, and why does it go so viral now? The reason wraps up around the story of Phoenix Nightingale -an American woman suffering from acute intermittent porphyria- who shared her clinical experience in an interview. She explained that garlic triggers violent attacks in her, ensuing in vomiting, neurological crises, and breathing difficulties.

Her condition is extreme; the consumption of garlic or any other foods containing sulfur might expose her to the risk of death. The attacks are usually violent and have the potential to last for several days. To Phoenix, this means vomiting up to 60 times in an episode while struggling to breathe.

Although some would find that irony abounds in comparing them to Dracula, there is nothing funny about it. Neurological side effects can lead others to believe this is a monster or possessed. Their beliefs, in turn, make their clinical condition even worse. Besides the physical agony, there is social isolation, with them being sometimes labeled “crazy.

Likewise, Phoenix, who suffered for years before receiving a diagnosis, hopes his story can help improve understanding and treatment of these rare diseases.