What does CEP mean in MEDICAL

CEP stands for Congenital Erythropoietic Porphyria. It is a rare condition caused by a deficiency of an enzyme in the body, leading to a buildup of porphyrins that can cause skin problems and organ damage.

CEP affects fewer than 1 in 5 million people worldwide. In most cases, it is inherited from one or both parents.

Common symptoms include excessive hairiness, redness and scaling of the skin when exposed to light, joint pain, muscle weakness, bladder stones, dark urine and/or abdominal pain. These symptoms can vary from person to person.

Diagnosis typically involves blood tests and genetic testing to detect the absence or mutation of the enzyme responsible for breaking down porphyrins within the body. Skin biopsy may also be used if necessary.

Treatment generally includes medications to reduce risk factors such as exposure to sunlight and iron supplements if needed as well as physical therapy for muscle weaknesses/stiffness. Bone marrow transplantation may also be recommended for more severe cases.