What does CEP mean in HOSPITALS

Congenital Erythropoietic Porphyria (CEP) is a genetic disorder that affects the way in which porphyrins, a type of pigment, are processed by the body. This leads to an accumulation of heme metabolites in the blood that can cause symptoms including reddening and swelling of the skin, painful blisters, jaundice, fatigue, and other problems.

CEP is caused by mutations in the uroporphyrinogen III cosynthase gene. These mutations lead to a disruption in the production of enzymes which break down porphyrins and heme molecules. As a result, these molecules accumulate in the body causing various symptoms.

Congenital Erythropoietic Porphyria (CEP) is an inherited condition that occurs when a child inherits two copies of mutated genes from their parents. Each parent must carry one copy of the mutation to pass on to their child. This means that if both parents are carriers of this mutation there is approximately 25% chance for each pregnancy to have CEP.

Common signs and symptoms associated with Congenital Erythropoietic Porphyria (CEP) include reddening and swelling of skin after exposure to sun or artificial light, painful blisters on exposed areas, yellow discoloration of eyes and skin due to accumulation of heme metabolites called porphyrins, extreme fatigue after exercise or physical activity, dark-colored urine due to accumulation of porphyrins within it, constipation or diarrhea due to impaired digestive tract movement.]END]

Q: How is CEP diagnosed?

A: Diagnosis for Congenital Erythropoietic Porphyria (CEP) usually begins with a physical exam along with family history review. Blood tests may be used to measure levels of porphyrins within red blood cells as well as genetic testing may be used to identify mutated genes associated with this disorder. Urine tests may also detect presence of abnormally high levels porphyrin metabolites within urine samples.

Treatment for Congenital Erythropoietic Porphyria (CEP) often includes measures such as protecting exposed areas from sun or artificial light exposure with clothing or sunscreen use; administering intravenous hematin or hemesterol; providing oral iron- chelating drugs; through frequent blood transfusions; nutritional supplements; or even through complete bone marrow transplantation depending on severity of patient’s illness.

Complications resulting from Congenital Erythropoietic Porphyria can include developmental delay; mental retardation; vision impairment; impaired kidney function; electrolyte imbalance due to decreased bile acid secretion; iron overload due to frequent blood transfusions etc.

People living with Congenital Erythropoietic Porphyria should try avoid exposure to sunlight and artificial lights whenever possible through wearing protective clothing or using sunscreen products as needed. Additionally dietary changes such as eating more fiber-rich foods , avoiding foods rich in iron and avoiding certain drugs such as barbiturates might help minimize pain arising from associated symptoms as well.