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Hepatoerythropoietic porphyria

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Esl thesis statement editor websites for masters. Best literature review ghostwriter websites. Analysis ghostwriting for hire uk. Professional definition essay proofreading services gb. Professional dissertation introduction proofreading services usa. Photosensitivity can be severe and can cause scarring, erosion, and disfigurement. Bacterial infection of skin lesions can occur.

Abnormal, excessive hair growth hypertrichosis may also occur on sun-exposed skin. Affected skin may darken or lose color hyper- or hypopigmentation. Small bumps with a distinct white head milia may also develop. Some affected individuals have teeth that are reddish-brown colored erythrodontia. Low levels of circulating red blood cells anemia may also occur.

Anemia may be due to the premature destruction of red blood cells hemolysis.


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Anemia associated with HEP may be mild or severe. Severe anemia may be associated with fatigue, pale skin, irregular heartbeat, chest pain, dizziness, and abnormally cold hands and feet. Mild cases of HEP can go undiagnosed until adulthood. Overt photosensitivity may not be seen and mild skin damage can be mistaken for other conditions during childhood. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.

HEP is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk is the same for males and females. Investigators have determined that the UROD gene is located on the short arm p of chromosome 1 1p Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Chromosomes are further sub-divided into many bands that are numbered. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Such low enzyme activity results in the abnormal accumulation of specific porphyrins and related chemicals in body, especially within the bone marrow, red blood cells, liver and skin. Symptoms develop because of this abnormal accumulation of porphyrins and related chemicals. For example when porphyrins accumulate in the skin, they absorb sunlight and enter an excited state photoactivation.

This abnormal activation results in the characteristic damage to the skin found in individuals with HEP. The liver removes porphyrins from the blood plasma and secretes it into the bile. When porphyrins accumulate in the liver, they can cause toxic damage to the liver. HEP is an extremely rare disorder that affects males and females in equal numbers.

Approximately 40 cases have been reported in the medical literature. The exact incidence or prevalence of HEP in the general population is unknown. Symptoms of the following disorders can be similar to those of HEP. Comparisons may be useful for a differential diagnosis. Congenital erythropoietic porphyria CEP is a rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III cosynthase UROS , the fourth enzyme in the heme biosynthetic pathway.


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  • Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights photosensitivity. After exposure to light, the photo-activated porphyrins in the skin cause bullae blistering and the fluid-filled sacs rupture, and the lesions often get infected.

    These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. CEP is inherited as an autosomal recessive genetic disorder. Typically, there is no family history of the disease. Both parents are usually healthy, but each carries a defective gene that they can pass to their children. Affected offspring have two copies of the defective gene, one inherited from each parent.

    There are other conditions that may cause signs and symptoms that are similar to those seen in HEP. Such conditions include other cutaneous porphyrias, drug-induced photosensitivity, epidermolysis bullosa, various forms of lupus, and solar urticarial. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. A diagnosis of HEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

    HEP may be considered in infants and children with chronic, blistering photosensitivity. Screening tests can help diagnose HEP by measuring the levels of certain porphyrins in blood plasma, urine and red blood cells. There is elevation of porphyrins in plasma, urine, and feces. Porphyrin patterns in HEP are similar to those seen in PCT with elevation of highly carboxylated porphyrins and isocoproporphyrins. In contrast to PCT, there are markedly increased levels of zinc protoporphyrin in red blood cells in HEP patients which is due to accumulation of pathway intermediates being metabolized to protoporphyrins.

    Molecular genetic testing can confirm a diagnosis of HEP by detecting mutations in both UROD genes, but is available only on a clinical basis. The treatment of HEP is directed toward the specific symptoms that are apparent in each individual.


    • Hepatoerythropoietic Porphyria - NORD (National Organization for Rare Disorders).
    • Essays On Hepatoerythropoietic Porphyria!
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    • Treatment may require the coordinated efforts of a team of specialists. Genetic counseling may benefit affected individuals and their families. Because the disorder is so rare, most treatment information is based other forms of porphyria. Avoidance of sunlight will benefit affected individuals and can include the use of clothing styles with long sleeves and pant legs, made with double layers of fabric or of light-exclusive fabrics, wide brimmed hats, gloves, and sunglasses. Topical sunscreens are generally ineffective, but certain tanning products with ingredients that increase pigmentation may be helpful.

      Affected individuals may also benefit from window tinting and the use of vinyl or films to cover the windows of their homes and cars. Phlebotomies, which are used to treat individuals with PCT, are generally ineffective in individuals with HEP since elevated iron levels are not a feature of the disorder.