Variegate Porphyria

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Variegate Porphyria (VP), also known as Porphyria Variegata, PPOX Deficiency, South African Type Porphyria

[edit] Definition

Variegate Porphyria is out of a class of diseases called the porphyrias. All of the porphyrias result from malfunctions in the chemical processes that form heme, a protein important to the blood, bone marrow, and liver. Some people with VP have problems with the nervous system, and have sporadic attacks of intense pain. Other people with VP have skin problems and extreme sensitivity to sunlight. In rare cases, people will have both problems. Some attacks of VP may be brought on by interactions with medications.

[edit] Description, Signs and Symptoms

Some individuals with VP have extreme photosensitivity, or sensitivity to sunlight. The symptoms of this form of the disease include:

blistering of the skin upon sun exposure
milia (benign skin lesions)
scarring
dyspigmentation (changes in skin color)
leathery skin texture

Other individuals with VP have systemic problems, or problems with their nervous system. These people suffer attacks of pain and may have uncontrollable vomiting, increased heart rate and blood pressure, a dark-red or orange urine, and in extremely severe cases, seizures or coma may result.

[edit] Inheritance

VP can be inherited in an autosomal dominant pattern that arises from a mutation in the gene that codes for the PPOX protein, or protoporphyrinogen oxidase enzyme protein. Normally the disease does not develop just because the mutation is present, usually the gene malfunction has to be "triggered" by environmental factors, which in most cases is a poor interaction with a medication.

[edit] Demographics

There is no current porphyria registry in the United States, so the prevalence of this type of porphyria is unknown. However, it has a relatively high incidence in South Africa, where it is estimated at 1 in 300 people. There is also a high incidence in Finland. In most other parts of the world, it is considered extremely rare.

[edit] Diagnosis

[edit] Treatment and Management

It is important to avoid carbohydrate-low diets, as this can cause attacks. Attacks may be controllable by ingesting sugary foods or by getting intravenous glucose when an attack is felt to be coming on. It is recommended that people with VP moderate their alcohol intake and don't smoke.