hereditary coproporphyria

Hereditary coproporphyria (HCP) is a rare metabolic disorder characterized by deficiency of the enzyme coproporphyrinogen oxidase [1]. This enzyme deficiency results in the accumulation of porphyrin precursors in the body, which can cause various symptoms.

The symptoms of HCP typically start with abdominal pain that slowly increases over a period of days, accompanied by nausea and vomiting [3][13]. In some individuals, the pain is predominantly in the abdomen, while others may experience numbness and pain in their hands and feet (neuropathy) [2].

HCP is an autosomal dominant disorder, meaning that a genetic mutation is present in only one of the pair of CPOX genes [4][6]. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

The long-term complications of HCP are similar to those of acute intermittent porphyria (AIP), and may include skin sensitivity to sunlight and neurological problems [7].

HCP is caused by changes in the CPOX gene, which controls the CPOX enzyme in the heme pathway. Without enough of this enzyme, there is a buildup of compounds called ALA and PBG, as well as other porphyrins [7]. This can lead to the accumulation of toxic substances in the body, causing the symptoms associated with HCP.

Overall, hereditary coproporphyria is a rare but serious condition that requires prompt medical attention if symptoms occur.

Hereditary coproporphyria (HCP) is a rare metabolic disorder characterized by deficiency of the enzyme coproporphyrinogen oxidase (CPOX). The signs and symptoms of HCP can vary in severity and frequency, but they often include:

• Abdominal pain: Severe abdominal pain is a common symptom of HCP, affecting 85-95% of patients [3].
• Neurological disorders: Patients may experience neurological episodes that can persist for several weeks, manifesting as severe abdominal pain, neurological disorders, and other symptoms [3].
• Body pain: Body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure are also common symptoms of HCP [1].
• Constipation: Constipation is another symptom that may be experienced by patients with HCP [5].
• Skin changes: Some patients may experience skin changes as a result of HCP [5].

It's worth noting that the symptoms of HCP can vary from person to person, and not everyone will experience all of these symptoms. However, if you or someone you know is experiencing any of these symptoms, it's essential to seek medical attention for proper diagnosis and treatment.

References:

[1] Symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure. Less common ...

[3] Patients suffer neurovisceral episodes that can persist for several weeks, manifesting severe abdominal pain (85-95% of cases), neurological disorders, and ...

[5] Apr 9, 2024 — Coproporphyria manifests with signs and symptoms that include abdominal pain, neuropathies, constipation, and skin changes. (See Presentation.) ...

Hereditary coproporphyria (HCP) can be diagnosed through various biochemical and molecular genetic tests.

Biochemical Diagnostic Tests

• Total RBC porphyrins and zinc protoporphyrin: Elevated levels of these porphyrins in the blood are indicative of HCP [1].
• Total urinary porphyrins: Abnormal concentrations of porphyrins in the urine can also suggest HCP [7].
• Plasma or serum total porphyrins: This test is a useful and underutilized tool for diagnosing porphyrias, including HCP [9].

Molecular Genetic Testing

• CPOX gene mutation testing: Molecular genetic testing can confirm a diagnosis of HCP by detecting mutations in the CPOX gene [2], [3].
• Family member screening: Family members of an individual positive for a CPOX mutation can be screened to identify carriers or affected individuals [3].

Other Diagnostic Tests

• Reddish or brown coloration of urine: Exposure to warm light can cause urine to turn reddish or brown, which is suggestive of HCP [6].
• Clinical diagnosis: A clinical diagnosis of HCP can be made based on a combination of symptoms and biochemical test results [8].

It's essential to note that all porphyria diagnoses are confirmed by biochemical testing. "Clinical diagnoses" without positive biochemical results are not considered diagnostic of porphyrias, including HCP.

References: [1] - Search result 5 [2] - Search result 2 [3] - Search result 3 [6] - Search result 6 [7] - Search result 7 [8] - Search result 8 [9] - Search result 9

Treatment Options for Hereditary Coproporphyria

Hereditary coproporphyria (HCP) is a rare genetic disorder that affects the production of heme, a vital molecule in the body. While there is no cure for HCP, various treatment options are available to manage its symptoms and prevent acute attacks.

Medications Used to Treat HCP

• Panhematin: This is the drug of choice for severe attacks and may be used long-term for patients with recurrent attacks [6]. It helps to decrease the production of toxic porphyrin precursors in the body.
• Glucose infusions: Intravenous glucose infusions can help to alleviate symptoms during an acute attack by providing a source of energy for the body [8].
• Heme infusions: In some cases, intravenous heme infusions may be used to treat severe attacks and prevent complications [8].

Other Treatment Options

• Pain management: Medications such as narcotics can be used to control pain during an acute attack [6].
• Anti-seizure medications: While most anti-seizure medications can make symptoms worse, some short-acting benzodiazepines like midazolam or magnesium may be used to treat seizures that accompany HCP [5].

Off-Label Medications

• Some off-label medications, such as phenytoin and sodium valproate, may be occasionally used to treat seizures associated with HCP, although they are not FDA-approved for this purpose [9].

It's essential to note that treatment for HCP should only be administered under the guidance of a qualified healthcare professional. They will work with you to develop a personalized treatment plan tailored to your specific needs and symptoms.

References:

[5] - Short-acting benzodiazepine or magnesium can be used to treat seizures associated with HCP. [6] - Panhematin is the drug of choice for severe attacks and may be used long-term for patients with recurrent attacks. [8] - Treatment for acute porphyria involves intravenous (IV) heme or glucose infusions. [9] - Off-label medications, such as phenytoin and sodium valproate, may be occasionally used to treat seizures associated with HCP.

Hereditary coproporphyria (HCP) is a rare genetic disorder that can be challenging to diagnose due to its variable and nonspecific symptoms. However, there are several conditions that should be considered in the differential diagnosis for HCP.

• Acute intermittent porphyria: This is another type of porphyria that can cause acute attacks similar to HCP. The main difference between the two conditions is the frequency and severity of the episodes (HCP has less frequent and less severe episodes) [6][7].
• Variegate porphyria: This condition is characterized by a combination of cutaneous and neurological symptoms, which can be similar to those seen in HCP. However, variegate porphyria typically presents with more severe skin manifestations [5][12].
• ALA-D deficiency porphyria: This is a rare form of porphyria that can cause acute attacks similar to HCP. The main difference between the two conditions is the specific enzyme deficiency involved (CPOX in HCP, ALA-D in this condition) [5].
• Pseudoporphyria (due to drugs or sunbed abuse): This condition can mimic some of the symptoms seen in HCP, such as blistering skin lesions. However, it is typically associated with exposure to certain medications or sunbeds [3].

It's essential to note that a negative genetic test does not exclude the diagnosis of HCP, and other factors such as potential triggers (e.g., infection, medication) should be considered in patients presenting with an acute attack [2].