6th skin disease, C E Porphyria, a skin diseases by inheritance, needs bone marrow transplantation.

Congenital Erythropoietic Porphyria, a  skin diseases by inheritance that needs bone marrow transplantation, see its severity


Meaning of porphyria

Porphyrias are basically a group of disease. The problem occurs when there is abnormality in the body in producing porphyrins, a type of chemical. Porphyrins are the crucial chemical to form hemoglobin. Hemoglobin carries oxygen in the red blood cells throughout our body. Hemoglobin is produced by a chain of reactions. The reactions involve conversion of porphyrins to another and in this process a genetic disease occur in the name of “porphyrias”. In the event of a blockage in the chain of reactions, there is a built up of “porphyrin” in the body of the patient, depending on the severity of the blockage. High concentration of porphyrins damages the tissues. Different porphyrias’ accumulations make the severity of porphyrins.

The meaning of congenital erythropoietic porphyria

CEP (congenital erythropoietic porphyria) is also known as Günther’s disease, because Dr. Günther described the disease for the first time. The disease is rarest in its type among the porphyrias. Out of every 2 to 3 million of people 1 get this disease. The CEPdisease affect both male and female in an equal manner. All ethnic groups can be the victims.

Congenital erythropoietic porphyria and its causes

High levels of porphyrin are found in this condition, known as porphyrinogen, which affect urine bone marrow and blood and become the signs and symptoms.

Does the problem erythropoietic porphyria run through families?

Yes, the carriers of the condition are parent(s). Each of the parents might not have any signs or symptoms of the problem but has the mutation in the genes of either of them. The risk factor is such that 1 out of 4 will carry the 2 abnormal genes from the each parent and develop the health problem. This hereditary condition is termed as ‘autosomal recessive’.

Congenital erythropoietic porphyria & its symptoms

Since the severity of the condition varies, affected people may not have all the conditions together. In many cases, the condition may affect either in early childhood or in the teen ages. The symptoms are:

• Skin becomes sensitive to light, especially if there is direct sunlight. In this condition the patient will have either ulcers or blisters or sometimes both. Even it is healed, it will leave scars. The most affected are those patients who are exposed to sun, the patients’ scalp, ears, face and backs of the hands will be most affected areas.

• CEP affected new born babies will pass red urine, but the intensity of the redness will vary differently in different days.

• The affected person will become sensitive in any artificial light or in the bright sunshine. The problem may lead to scaring or ulcers. With the progression of time, some may lose eyelashes that make their eyes irritating, as if small fibre or dust particle is there.

• Longer time is needed to heal the skin, if it is infected or blistered or injured.

• Commonly CEP patients will have anemia, anemia occurrence is a common thing. But the severity will make the variance. Because of damage to the red blood cells, paleness-ness, shortness of breath and tiredness are the fallouts that results to the condition of porphyrin.

• The job of spleen is removing red blood cells, but it becomes bigger with the passage of time and worsens the anemia in addition to reducing the white cells and platelets’ count. The job of platelets is to help blood clots in preventing bleeding and the job of the white cells is to fight all types of infections in the blood. In this condition more risks are caused for infections and bleeding.

• Oosteoporosis that is thinning of bones can also be the symptoms of CEP. The condition is responsible for bone fractures even for minor injuries.

How does congenital erythropoietic porphyria appear to be?

If the blisters are repeatedly occurring, the patient will have bald patches on their scalps and extensive scaring when their skin is exposed to sun.  A few patients may have darkening of skin due to the exposure to sun. Some patients may develop excess hair on the back of the hand and on the face.

Diagnosis of CEP

If children (or rare cases of adults) have this problem, the diagnosis is confirmed by measuring the levels of porphyrin in the faeces, urine and blood.   All these samples are needed to be kept away from sunlight till they are tested. Changes in the genes are also to be looked for through blood tests.

Pregnant women are not commonly tested for CEP, but exception will be there if there is already a child in the family with the CEP case. In this case cells are taken (for the tests) from the fluids surrounding the baby in the womb (within 3 to 4 months of conception) or from the placenta after the delivery. The test confirms or rejects the cause of CEP due to gene mutation.

Is CEP curable?

Only the bone marrow transplantation is the cure for CEP, as on date. A healthy bone marrow is transplanted from the donor to the person with CEP.  If the BMT transplantation is successful, problems like anaemia and photosensitivity will improve, but the previous damages done by the scarring will permanently remain in the skin.

A good match of bone marrow has to be there for the success of the BMT. The procedure of BMT is full of risks. So only those severely affected are considered for this BMT. The donor and the recipient are tested very intensely before the operation, for the best result to come.

The possibility of curing the CEP disease through gene therapy is being extensively researched. The researchers are trying to see the possibilities of correcting the affected person’s abnormal gene. All are keeping their fingers crossed to see the success in the near future. Since mostly the patients are children, the medical problems get attached with the psychological and emotional aspects of the family members,  leading  to many other unwanted desperations of all the family members of the affected patient(s).


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