Hereditary coproporphyria: Difference between revisions
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Hereditary | {{SI}} | ||
{{Infobox medical condition | |||
[[File:Coproporphyrinogen_III.svg| | | name = Hereditary coproporphyria | ||
| image = [[File:Coproporphyrinogen_III.svg|200px]] | |||
| caption = Structure of coproporphyrinogen III | |||
| synonyms = HCP | |||
| pronounce = | |||
| specialty = [[Hematology]], [[Genetics]] | |||
| symptoms = [[Abdominal pain]], [[neuropathy]], [[psychiatric symptoms]] | |||
| onset = Typically in [[adulthood]] | |||
| duration = Episodic | |||
| causes = [[Genetic mutation]] in the [[CPOX]] gene | |||
| risks = [[Hormonal changes]], [[alcohol]], certain [[medications]] | |||
| diagnosis = [[Urine test]], [[genetic testing]] | |||
| differential = [[Acute intermittent porphyria]], [[variegate porphyria]] | |||
| treatment = [[Glucose]] and [[heme]] infusions, avoidance of triggers | |||
| prognosis = Variable, can be managed with treatment | |||
| frequency = Rare | |||
| deaths = Rare, if untreated | |||
}} | |||
'''Hereditary coproporphyria''' (HCP) is a type of [[porphyria]], which is a group of rare metabolic disorders resulting from a deficiency in one of the enzymes involved in the [[heme]] biosynthesis pathway. HCP is characterized by a deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins and their precursors, which can cause a variety of symptoms. | '''Hereditary coproporphyria''' (HCP) is a type of [[porphyria]], which is a group of rare metabolic disorders resulting from a deficiency in one of the enzymes involved in the [[heme]] biosynthesis pathway. HCP is characterized by a deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins and their precursors, which can cause a variety of symptoms. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Hereditary coproporphyria is caused by mutations in the [[CPOX gene]], which encodes the enzyme coproporphyrinogen oxidase. This enzyme is responsible for the conversion of coproporphyrinogen III to protoporphyrinogen IX in the heme biosynthesis pathway. A deficiency in this enzyme leads to the accumulation of coproporphyrinogen III and other porphyrin precursors, which can cause neurovisceral attacks and cutaneous symptoms. | Hereditary coproporphyria is caused by mutations in the [[CPOX gene]], which encodes the enzyme coproporphyrinogen oxidase. This enzyme is responsible for the conversion of coproporphyrinogen III to protoporphyrinogen IX in the heme biosynthesis pathway. A deficiency in this enzyme leads to the accumulation of coproporphyrinogen III and other porphyrin precursors, which can cause neurovisceral attacks and cutaneous symptoms. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
The clinical manifestations of hereditary coproporphyria can vary widely among individuals. Common symptoms include: | The clinical manifestations of hereditary coproporphyria can vary widely among individuals. Common symptoms include: | ||
* Abdominal pain | * Abdominal pain | ||
* Neurological disturbances such as seizures, neuropathy, and psychiatric symptoms | * Neurological disturbances such as seizures, neuropathy, and psychiatric symptoms | ||
* Photosensitivity leading to skin lesions | * Photosensitivity leading to skin lesions | ||
The symptoms are often triggered by factors such as certain medications, alcohol, fasting, and hormonal changes. | The symptoms are often triggered by factors such as certain medications, alcohol, fasting, and hormonal changes. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of hereditary coproporphyria is based on clinical symptoms, biochemical tests, and genetic testing. Biochemical tests typically show elevated levels of coproporphyrin in the urine and feces. Genetic testing can confirm mutations in the CPOX gene. | Diagnosis of hereditary coproporphyria is based on clinical symptoms, biochemical tests, and genetic testing. Biochemical tests typically show elevated levels of coproporphyrin in the urine and feces. Genetic testing can confirm mutations in the CPOX gene. | ||
==Management== | ==Management== | ||
Management of hereditary coproporphyria involves avoiding triggers, managing symptoms, and in some cases, administering heme preparations to reduce the production of porphyrin precursors. Patients are advised to avoid drugs and other factors that can precipitate attacks. | Management of hereditary coproporphyria involves avoiding triggers, managing symptoms, and in some cases, administering heme preparations to reduce the production of porphyrin precursors. Patients are advised to avoid drugs and other factors that can precipitate attacks. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with hereditary coproporphyria varies. With proper management and avoidance of triggers, many individuals can lead relatively normal lives. However, severe attacks can be life-threatening and require prompt medical attention. | The prognosis for individuals with hereditary coproporphyria varies. With proper management and avoidance of triggers, many individuals can lead relatively normal lives. However, severe attacks can be life-threatening and require prompt medical attention. | ||
==See also== | |||
== | |||
* [[Porphyria]] | * [[Porphyria]] | ||
* [[Heme]] | * [[Heme]] | ||
* [[CPOX gene]] | * [[CPOX gene]] | ||
* [[Photosensitivity]] | * [[Photosensitivity]] | ||
[[Category:Porphyrias]] | [[Category:Porphyrias]] | ||
Latest revision as of 04:42, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hereditary coproporphyria | |
|---|---|
| |
| Synonyms | HCP |
| Pronounce | |
| Specialty | Hematology, Genetics |
| Symptoms | Abdominal pain, neuropathy, psychiatric symptoms |
| Complications | N/A |
| Onset | Typically in adulthood |
| Duration | Episodic |
| Types | N/A |
| Causes | Genetic mutation in the CPOX gene |
| Risks | Hormonal changes, alcohol, certain medications |
| Diagnosis | Urine test, genetic testing |
| Differential diagnosis | Acute intermittent porphyria, variegate porphyria |
| Prevention | N/A |
| Treatment | Glucose and heme infusions, avoidance of triggers |
| Medication | N/A |
| Prognosis | Variable, can be managed with treatment |
| Frequency | Rare |
| Deaths | Rare, if untreated |
Hereditary coproporphyria (HCP) is a type of porphyria, which is a group of rare metabolic disorders resulting from a deficiency in one of the enzymes involved in the heme biosynthesis pathway. HCP is characterized by a deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins and their precursors, which can cause a variety of symptoms.
Pathophysiology[edit]
Hereditary coproporphyria is caused by mutations in the CPOX gene, which encodes the enzyme coproporphyrinogen oxidase. This enzyme is responsible for the conversion of coproporphyrinogen III to protoporphyrinogen IX in the heme biosynthesis pathway. A deficiency in this enzyme leads to the accumulation of coproporphyrinogen III and other porphyrin precursors, which can cause neurovisceral attacks and cutaneous symptoms.
Clinical Presentation[edit]
The clinical manifestations of hereditary coproporphyria can vary widely among individuals. Common symptoms include:
- Abdominal pain
- Neurological disturbances such as seizures, neuropathy, and psychiatric symptoms
- Photosensitivity leading to skin lesions
The symptoms are often triggered by factors such as certain medications, alcohol, fasting, and hormonal changes.
Diagnosis[edit]
Diagnosis of hereditary coproporphyria is based on clinical symptoms, biochemical tests, and genetic testing. Biochemical tests typically show elevated levels of coproporphyrin in the urine and feces. Genetic testing can confirm mutations in the CPOX gene.
Management[edit]
Management of hereditary coproporphyria involves avoiding triggers, managing symptoms, and in some cases, administering heme preparations to reduce the production of porphyrin precursors. Patients are advised to avoid drugs and other factors that can precipitate attacks.
Prognosis[edit]
The prognosis for individuals with hereditary coproporphyria varies. With proper management and avoidance of triggers, many individuals can lead relatively normal lives. However, severe attacks can be life-threatening and require prompt medical attention.
