Porphyria cutanea tarda essay

In fact, most individuals with a mutation in the UROD gene do not develop the disorder.

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This deficiency is caused by heterozygous mutations in the PPOX gene, and leads to the accumulation of certain chemicals called porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of symptoms.

The most common factors associated with acquired PCT are hemochromatosis or chronic hepatitis C infection.

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Treatment may require the coordinated efforts of a team of specialists. This abnormal activation results in the characteristic damage to the skin found in individuals with PCT.

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The dosage of these drugs is especially important; dosages approaching those commonly used to treat individuals with other conditions can cause significant adverse effects in individuals with PCT including elevating porphyrin levels and worsening photosensitivity. This abnormal activation results in the characteristic damage to the skin found in individuals with PCT. Cutaneous porphyria typically has less severe symptoms than acute porphyria does, but attacks tend to occur more often. The porphyrias Chapter Common neurological symptoms include abdominal pain, nausea, vomiting, constipation, extremity pain and weakness, anxiety, restlessness and convulsions. Variegate porphyria is a rare genetic metabolic disorder characterized by deficient function of the enzyme protoporphyrinogen oxidase PPO or PPOX. Substrates for the deficient enzyme, which are porphyrinogens reduced porphyrins , accumulate, are oxidized to porphyrins, transported to the skin, and cause photosensitivity. These factors are not necessarily the same for each individual.

A phlebotomy schedule is recommended to achieve a target ferritin level of less than 20 nanograms per milliliter In some cases, affected individuals may be treated with low doses of chloroquine and hydroxychloroquine, which can also reduce iron levels in the liver.

PCT is the most treatable form of porphyria and treatment appears equally effective for both the sporadic and familial forms. Clinical symptoms often correlate with abnormally elevated levels of iron in the liver iron overloading.

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This is called hyperpigmentation or hypopigmentation. PCT is found worldwide and in individuals of all races.

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All forms of porphyria slow the production of heme, which is used in hemoglobin and other chemicals that transfer oxygen through the bloodstream. Related coverage. Treatment includes repeated phlebotomy or low-dose hydroxychloroquine or chloroquine; remission can usually be achieved within 6 months. Iron overloading in the liver may only be mild or moderate. The resulting lesions may crust over. Symptoms PCT causes photosensitivity, which is an extreme sensitivity to sunlight. The relationship between iron levels and PCT has long been established and PCT is classified as an iron-dependent disease. However, only 1 in 5 people who carry the gene for acute porphyria experience symptoms. Affected Populations PCT is a rare disorder that affects males and females. The skin lesions of pseudoporphyria closely resemble those seen in cutaneous forms of porphyria including porphyria cutanea tarda. One type of cutaneous porphyria, porphyria cutanea tarda PCT , can also be triggered by environmental factors, such as heavy alcohol consumption or iron supplements.

In some cases, tanning beds or ultraviolet light therapy phototherapy can worsen symptoms. Skin abnormalities characterize this disorder.

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Porphyria Cutanea Tarda