Porphyrias

Porphyrias are a group of disorders caused by mutations in specific enzymes involved with the production of heme, a component of hemoglobin, the red pigment that carries oxygen in the blood. Symptoms of porphyria result from heme deficiency.

The porphyrias can be divided into acute and cutaneous porphyrias. The acute porphyrias are less common and can result in neurological or psychiatric symptoms, abdominal pain, muscle weakness or paralysis, and even life-threatening crises.

Cutaneous porphyrias, however, are much more common and are characterized by skin symptoms. Five main forms of cutaneous porphyria are recognized: erythropoietic protoporphyria, variegate porphyria, hepatoerythropoietic porphyria, congenital erythropoietic porphyria, and protoporphyria.

Signs and Symptoms:

Extreme sensitivity to sunlight, leading to blistering and scarring of the skin
Highly irritated and itchy skin in reaction to sunlight or other chemicals
Darkening and thickening of the skin
Removal of pubic and body hair
Aching muscles
Fatigue
Abdominal pain and vomiting
Confusion, anxiety, hallucinations, and seizures in severe cases

Treatment:

Treatment for porphyria typically involves avoiding triggers such as excessive sun exposure, alcohol, and certain medications. Sunscreen and protective clothing are recommended for those with photosensitivity. Additionally, heme-replacement therapy and antibiotics have been used to control symptoms.

In severe cases, corticosteroids or intravenous heme therapy may be recommended. In cases of acute porphyrias, treatment may also involve dialysis, plasmapheresis, or endoscopy.