Coproporphyria
What is Coproporphyria?
Coproporphyria (CP) is an extremely rare hereditary metabolic disorder and is an acute type of porphyria. Porphyrias are a group of disorders caused by mutations in enzymes involved in haem synthesis that cause a buildup of metabolites in the body.
The genetic defect in those with CP is located in the mitochondrial gene for coproporphyrinogen oxidase (CPOX), and this mutation leads to the systemic accumulation of coproporphyrin (in urine, feces, plasma, and erythrocytes, among other molecules) and causes acute, painful attacks of abdominal pain, vomiting, and/or neurovisceral crises.
Common Symptoms of Coproporphyria
The main symptoms of coproporphyria include pepto-analgesic crises (severe abdominal pain and vomiting after taking opioid pain relievers such as morphine, oxycodone, etc.), neurovisceral crises (due to peripheral neuropathy, which can also lead to seizures, pain, or paralysis), and psychiatric symptoms. Depending on the severity of the condition, some patients may also experience:
- Fatigue
- Depression
- Anxiety
- Fever
- Jaundice
- Migraines
- Skin photosensitivity
- Anorexia
- Weight Loss
- Hypertriglyceridemia (elevated triglycerides)
- Hypertension
- Neck stiffness
Treatment of Coproporphyria
There is no cure for coproporphyria, so treatment focuses on managing symptoms. Treatments can include diet modification, medications, lifestyle changes, and avoiding triggers. It’s important to work with a physician who is knowledgeable about the disorder to determine the best course of treatment for each individual.
Diet is a key factor in managing coproporphyrin levels and minimizing complications. It’s recommended to limit intake of foods high in iron, zinc, and Vitamin A, as these can increase coproporphyrin levels and trigger a crisis. Foods to avoid include red meat, shellfish, and animal fats. This can lead to low blood sugar, so it’s important to follow a balanced diet and eat small, frequent meals.
Medications used to treat the acute abdominal pain associated with CP may include antibiotics, analgesics, anticonvulsants, sedatives, and nonsteroidal anti-inflammatory drugs (NSAIDs). It’s important to discuss potential risks and benefits of any medication with your doctor before taking it. In some cases, intravenous glucose or heme arginate can be given to reduce pain and other symptoms.
Psychotherapy may be beneficial in managing psychiatric and emotional symptoms. Light therapy can be used to treat photosensitivity, and physical therapy may be helpful in treating any associated paralysis or physical limitations.