Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Since its description at the end of the 19th century, about cases have been reported in the literature. The disease most often manifests at birth with extreme cutaneous photosensitivity that is severe and mutilating. The principle signs include cutaneous lesions that are bullous and rapidly erosive on the surface of skin exposed to the sun and light hands, face, feet.
|Published (Last):||9 May 2008|
|PDF File Size:||9.85 Mb|
|ePub File Size:||4.65 Mb|
|Price:||Free* [*Free Regsitration Required]|
What is Congenital Erythropoietic Porphyria? How common is CEP? What are the features of CEP? How is CEP inherited? How is CEP diagnosed? Can CEP be diagnosed in pregnancy? Is there a cure for CEP? What other treatments are available for CEP? Will there be new treatments available for CEP in the future? Can certain medications make CEP worse?
What other precautions do CEP patients need to take? Where can I get more information about CEP? This leads to increased production of porphyrins, called type I isomer porphyrins, from the bone marrow. These porphyrins accumulate in the body, especially in the red blood cells, and cause the problems associated with CEP. CEP is extremely rare. As it is so rare, the exact number of people affected by CEP is not clear. It is estimated that about 1 in every 2 — 3 million people are affected by CEP.
CEP can affect males and females equally, and any ethnic group. Individuals with CEP may not have all of the features described here. Different individuals may have different severity of the disease. Usually, the disease shows itself soon after birth or in early childhood, but sometimes onset of disease is delayed until adolescence or early adulthood.
Each individual has 2 copies of every gene, one inherited from their mother, and one from their father. To develop CEP, one has to have two copies of the mutated gene, one inherited from each parent as shown in the diagram. Although the parents of individuals with CEP can pass on the mutated gene to one of their children, they themselves do not have the disease, because they also have one normal gene.
Similarly, some brothers or sisters of the affected person may also inherit one mutated gene from one of the parents, but because they also inherit a normal gene from the other parent, they do not have CEP. When both mother and father are carriers, each of their unborn children will have a 1 in 4 risk of having CEP and a 1 in 2 risk of being a carrier.
CEP may be suspected in children or rarely adults who present with the features described above. These samples need to be protected from light until tested. A blood sample may also be taken to look for genetic mutations.
Testing for CEP in pregnancy is not offered routinely. This involves transplanting healthy bone marrow from another person the donor to that of the person with CEP the recipient. However the scarring from previous damage to the skin is permanent. For BMT to succeed, the bone marrow of the donor needs to be a good match with the recipient. BMT is currently reserved for those severely affected individuals who have a matched bone marrow donor.
The treatment of CEP is aimed at preventing scarring of skin and eyes, and treatment of the complications mentioned above. Some or all of the following measures may be needed:. Research is underway to cure CEP with gene therapy. It is realistic to anticipate significant progress with this research during the next decade.
CEP is an erythropopietic porphyria which differs from acute hepatic porphyrias that can be made worse by certain medications. CEP is not made worse by any of these medications.
Therefore, unless the person is allergic to a medication for any other reason, individuals with CEP have no restrictions in taking any form of medication that their health requires. If an individual with CEP is having an operation, their internal organs will become exposed to very bright lights in the operating theatre. This may result in damage to tissues of internal organs, just like the skin blistering after exposure to bright light.
The surgeon should be aware of this risk, in order to minimise the amount of light exposure, for example, by using special light filters. As CEP is a very rare condition, most general practitioners will have little experience of the condition.
However, dermatologists and haematologists see most people with CEP and usually ask advice from a porphyria specialist centre that exist in most European countries. If you are concerned about the likelihood of passing the condition onto your children, you may be referred to a geneticist or porphyria specialist centere for information.
Although there are a number of other sources of information, the majority of which are on the internet, they may not have been validated by porphyria specialists. Most give details about all the forms of porphyria. This Patient Information is based on the leaflet written by Dermatologist Dr R Katugampola, and includes information and experience gained from her clinical research study during which she interviewed and examined more than 20 CEP patients. Congenital erythropoietic porphyria CEP Contents 1.
Home Disclaimer. Contents 1.
Gunther disease , is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. In milder cases patients have not presented any symptoms until they have reached adulthood.
Congenital erythropoietic porphyria (CEP)
DermNet provides Google Translate, a free machine translation service. Note that this may not provide an exact translation in all languages. Congenital erythropoietic porphyria CEP is very rare metabolic disorder affecting the synthesis of haem, the iron-containing pigment that binds oxygen onto red blood cells. CEP is an inherited disorder in which there is a mutation in a gene on chromosome 10 that encodes uroporphyrinogen III synthase. CEP is autosomal recessive, which means an abnormal gene has been inherited from both parents. Carriers of a single abnormal gene do not usually exhibit any signs or symptoms of the disorder.
Congenital erythropoietic porphyria
What is Congenital Erythropoietic Porphyria? How common is CEP? What are the features of CEP? How is CEP inherited? How is CEP diagnosed? Can CEP be diagnosed in pregnancy? Is there a cure for CEP?