Hereditary coproporphyria

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Hereditary Coproporphyria

Hereditary Coproporphyria (pronounced: her·ed·i·tar·y co·pro·por·phy·ri·a) is a rare genetic disorder that affects the production of heme, a vital substance for the body. The condition is inherited in an autosomal dominant manner.

Etymology

The term "Hereditary Coproporphyria" is derived from the Greek words "kopros" meaning dung and "porphyra" meaning purple, referring to the color of the urine and feces of affected individuals. "Hereditary" indicates that the condition is genetic and can be passed down through generations.

Definition

Hereditary Coproporphyria is a type of porphyria that primarily affects the nervous system, leading to a range of neurological symptoms such as pain, mental health problems, and sometimes skin sensitivity to sunlight. It is caused by the deficiency of the enzyme coproporphyrinogen oxidase, which is involved in the heme synthesis pathway.

Symptoms

Symptoms of Hereditary Coproporphyria can vary greatly among individuals. They may include acute attacks of abdominal pain, vomiting, hypertension, and tachycardia. Neurological symptoms may include seizures, confusion, hallucinations, and paralysis. Some individuals may also experience skin symptoms such as photosensitivity, redness, and blistering.

Diagnosis

Diagnosis of Hereditary Coproporphyria is based on a clinical evaluation, detailed patient history, and specialized confirmatory tests. These tests may include a urine test for elevated levels of porphyrins, a blood test, and a stool test. Genetic testing can confirm a diagnosis.

Treatment

Treatment for Hereditary Coproporphyria is symptomatic and supportive. This may include hospitalization during acute attacks, pain management, and avoidance of triggers such as certain medications, alcohol, and fasting. In some cases, a medication called hemin may be used to reduce the severity of symptoms.

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