Coproporhyria
Coproporhyria Causes
The condition is inherited. A few types of this disease root from defective genes inherited from parents. Defects in the gene cause enzymes involved in the conversion of porphyrin into heme to become abnormal.
Coproporhyria Definition
Coproporhyria, also known as Porphria, is a term used to define a set of hereditary disorders arising from troubles in the body's manufacture of a substance identified as ?heme'. Heme is present in each body tissue. The body utilizes enzymes to transform ?porphyrins' into heme. When one of the enzymes has an inherited deficiency, the process of transformation is interrupted. This causes porphyrins to accumulate in one's body, which in turn leads to the symptoms of Coproporhyria.
Coproporhyria Diagnosis
If the doctor suspects Coproporhyria, she or he may recommend tests, including blood test, urine test, and stool sample test.
Coproporhyria Symptoms and Signs
Symptoms may depend on the severity and type of Coproporhyria. Indications of the disease will include serious abdominal pain, vomiting, constipation, seizures, disorientation, hallucinations, confusion, red urine, paranoia, hypertension, muscle pain, numbness, tingling, paralysis or weakness, and pain in legs, back, or arms. When the disease is cutaneous, symptoms will include skin swelling, itching, blisters, red urine, and painful redness of the skin.
Coproporhyria Treatment
Treatment is aimed at eliminating symptoms, and can include medicines to manage pain, stopping trigger medications, intravenous sugar, intravenous fluids, and hematin. Other treatments include phlebotomy and activated charcoal.