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Congenital Erythropoietic Porphyria (CEP)
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The Essentials
What is CEP?
Congenital erythropoietic porphyria (CEP), commonly referred to as Gunther disease, is a severe and extremely rare disorder caused by a deficiency of uroporphyrinogen III synthase, an enzyme that breaks down specific types of porphyrins. (Wikipedia) It is the rarest type of porphyria, and is usually diagnosed in infancy, although it may appear in adulthood. (ORDR) The main symptom of this disease is hyper-sensitivity to sunlight and some artificial light sources. The porphyrins are photo-activated, and cause blistering in the victim’s skin.
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Symptoms
Many maladies can occur in affected individuals who are exposed to long-wave ultraviolet light, including sunlight and some artificial light sources. These artificial light sources include fluorescent lights. Affected areas of the skin may develop sac-like lesions (vesicles or bullae), scar, and may become discolored (hyperpigmentation) if exposure to sunlight is prolonged. These affected areas of skin may become abnormally thick. Some individuals suffer fingernail deformities on exposure to sunlight. (NORD) Other symptoms that manifest in patients of CEP include brown-coloured teeth, reddish-coloured urine, and the loss of facial features. (Rare Diseases Network) Symptoms usually start in infancy or childhood. (ORDR) In severe forms of CEP, patients may suffer hemolysis (the rupture or destruction of red blood cells) of varying severity. (Orphanet)
Treatments
There are many ways to treat the disease, but among the most beneficial things that a person with this disease can do is to limit him/herself from sun exposure, or to eliminate sun exposure all together. Fluorescent lamps must be replaced by incandescent bulbs, which release less light, and will not excite the photoactivated porphyrins. Other methods include the oral ingestion of beta-carotene, high-level transfusions, and bone marrow transplant. (NORD) The treatment of choice is bone marrow transplant, after which the patient may be cured. Unfortunately, this method is new, and long term effects are not yet well-studied. Also, it is not an option for those suffering from a life-threatening infectious complication. (Wikipedia)
Prevalence
The disease is extremely rare, with over 200 cases having been reported worldwide. (OMIM)
Causes
This disorder is caused by a malfunction in the gene responsible for the synthesis of the UROS enzyme. An individual who lacks this enzyme can not break down porphyrins, and thus his/her skin blisters on exposure to sunlight. (Wikipedia) Because the disease is autosomal recessive, both parents must have a copy of the mutated gene in order for symptoms to show in a child. The probability for two parents who carry the gene to pass it on to a child is 25%. (NORD)
Prognosis
Severe forms of the disease can greatly diminish life expectancy of patients. For young patients especially, bone marrow transplantation can improve the prognosis of this disease by healing specific lesions and hemolytic anemia, causing them to disappear. (Orphanet)
Advice
The avoidance of sunlight is essential for individuals with CEP. Some recommended measures are topical sunscreens, protective clothing, long sleeves, hats, gloves, and sunglasses. Window tinting or the use of vinyls and films to cover windows in one’s car or house is greatly beneficial. However, before tinting or shading car windows. the individuals should check their local Registry of Motor Vehicles to ensure that no local codes are violated. (NORD)
Diagnosis
Diagnosis in most patients occurs early in their lives, and is from the reddish color of the urine that stains the diapers. (NORD) Patients have very high levels of specific porphyrins in the urine. (Orphanet) Diagnosis can also occur later in the patients’ lives through the observation of skin blisters on sun or light exposure. (NORD)
Diagnostic Tests
There are many different laboratory tests available for this disease. Many of these are expensive, and the results are often difficult to interpret. An accurate, reliable and economic method for diagnosing this disease is based on porphyrin measurement in urine. In asymptomatic cases, DNA testing is effective. Before a final diagnosis is made in any of these tests, a porphyria specialist should be consulted. Once the mutation has been identified, DNA analysis should be performed on other members of the family to determine if they have inherited the disease. (Rare Diseases Network)