Thursday, April 19, 2018 by Frances Bloomfield
Hepatoerythropoietic porphyria is a severe form of porphyria. This is the name of a group of rare and hereditary blood disorders wherein the body is unable to produce heme, a hemoglobin component, due to the absence of certain enzymes. In turn, porphyrins, which are naturally occurring compounds, accumulate in blood and tissues, leading to a broad scope of symptoms that vary in severity.
In the case of hepatoerythropoietic porphyria, it’s caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, leading to uroporphyrin building up in the liver.
Hepatoerythropoietic porphyria is distinguished primarily by skin symptoms – specifically, chronic skin blistering upon exposure to sunlight. In addition to this, other skin-related signs and symptoms characterize this disease, namely:
Additionally, other symptoms may appear, such as:
This condition primarily impacts the skin, to the point where its complications include erosion and potential disfigurement. Apart from causing damage to the ears, nose, and lips, appendages such as the arms and legs may be affected as well. Of the few cases of hepatoerythropoietic porphyria, some of the patients managed to lose parts of or all of their fingers and toes. Moreover, anemia can also cause the patient to have pale skin.
Hepatoerythropoietic porphyria can make people more susceptible to dental and vision abnormalities, and spleen and liver problems as well.
Hepatoerythropoietic porphyria is an inherited condition with signs that usually manifest in childhood. As such, there are no foods or nutrients that can prevent it. Instead, a diet for a patient with this disease should focus on eating more foods that make it easier to manage the symptoms. Obesity can aggravate the symptoms, as can subsisting on a low-carbohydrate diet. The key is to consume a perfect balance of healthy foods, which should include:
At the same time, strive to cut back on or avoid certain foods in their entirety. Packaged and processed foods, particularly processed meats, and alcohol fall under this. Although eating very few carbohydrates can be bad for this condition, consuming too much of these can be just as bad if not worse, depending on the types of carbohydrates.
Like with diet, treating hepatoerythropoietic porphyria focuses on managing the symptoms. This mainly involves taking care of the skin by avoiding direct sunlight, which itself can be done through:
If the patient suffers from other symptoms (e.g., anemia or spleen enlargement), then other steps will be taken (e.g., blood transfusion or splenectomy).
Hepatoerythropoietic porphyria is a condition brought on by the absence of specific enzymes and an excess of porphyrins in the liver. This rare condition is marked by severe sensitivity to light that can lead to blistering, scarring, disfigurement, and even the loss of appendages. Hepatoerythropoietic porphyria has no known cure, so treatment is about managing its symptoms through minimal sunlight exposure and adhering to a healthy, well-balanced diet.
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