Porphyria are genetic metabolic disorders with specific enzymatic deficiencies that are part of the heme biosynthesis pathway. Chester porphyria, which represents a unique sub-type characterizes itself by the symptoms of Acute intermittent porphyria (AIP) and the biochemical abnormalities found in both AIP and Variegate porphyria(VP).
The first documented historical record of the Chester porphyria dates to 1963 and has been indicated by an anesthetist from the town of Chester in England, which is why it was called Chester porphyria. The genesis case of that one person, born Peter Dobson in 1867 in Chester, was the first in the world to exhibit it. After all, many relatives exhibited similar symptoms, and that is why the family called it “Dobson’s complaint”, to which it was impossible to give any explanation.
Epidemiology
It is rare and has only been reported in the English city of Chester
Anatomy
Pathophysiology
Acute intermittent porphyria can also be differentiated from variegate porphyria by the excretion pattern of urine-porphyrins, which might be otherwise observed differentially in these closely related diseases. In Chester porphyria, the enzymatic activity of porphobilinogen deaminase, which would normally be reduced as in acute intermittent porphyria, as well of protoporphyrinogen oxidase, which is normally reduced in variegate porphyria, are also reduced. This condition is marked by neurovisceral dysfunction episodes, which are also present in all other acute porphyrias.
Etiology
Genetic investigations found that genes residing on chromosomal arm 11q and a gene responsible for the Chester porphyria disease are in the same place on the genome.
Chester porphyria is a disease which is triggered by the consumption of alcohol, tricyclic antidepressants, aluminum hydroxide, and other accumulated drugs which can lead to high risk.
The consequences from surgery, smoking, and metabolic conditions like low sodium levels or hyponatremia are also considered.
Genetics
Prognostic Factors
The mortality rate of Chester porphyria is probably high enough with the majority of patients experiencing morbid symptoms. In the Chester family many members having high blood pressure with chronic kidney disease also got diagnosed. The Chester porphyria-related painful crises can be described as a major source of morbidity in such patients. An analysis of the family’s pedigree shows that 14 people manifested with peripheral motor neuropathy, from which six suffered from bulbar palsy, and the rest of them rather passed away. Chester porphyria is characterized by various severe conditions like:
Hypertension
Renal failure
Intracerebral hemorrhage
Bulbar palsy
Retinal hemorrhage2.
Clinical History
AgeGroup: Symptoms can appear at any age, although they usually do so in adults.
Physical Examination
Skin: Unlike the other porphyria’s, there also are no specific skin lesions or photosensitivities. Nonetheless, there may be chronic signs of solar radiation in other cases.
Neurological Examination: Evaluation of bulbar palsy which is manifested by slurred speech and facial muscle weakness.
Abdomen: Evaluated by the doctor through palpation for tenderness, guarding, or rebound tenderness; these findings will aid in identifying the acute porphyria crises. It is not so common for these clinical symptoms to be associated with Chester porphyria.
Blood Pressure: Measurement for signs of hypertension, a pathology that is mostly associated with Chester porphyria disease.
Age group
Associated comorbidity
Hypertension andrenal illness are typical coexisting conditions in affected families. Certain drugs, drinking alcohol, smoking,having surgery, and having aberrant metabolic processes can all trigger porphyric crises.
Associated activity
Acuity of presentation
Differential Diagnoses
Acute Intermittent Porphyria
Diabetic Ketoacidosis (DKA)
Hereditary Coproporphyria
ALA Dehydratase Deficiency Porphyria
Arsenic Toxicity
Emergent Management of Lead Toxicity
Polyarteritis Nodosa
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Acute Management of Porphyric Crises: Intravenous administration of heme preparations to suppress hepatic porphyrin synthesis. Symptomatic relief with analgesics, antiemetics, and supportive measures.
Neurological Support: Rehabilitation therapy improves muscle strength and mobility in peripheral motor neuropathy patients, while speech therapy and nutritional support address swallowing difficulties and prevent malnutrition in bulbar palsy patients.
Research and Clinical Trials: Participation in research studies and clinical trials focusing on novel treatment approaches and therapeutic interventions for porphyria disorders, including Chester porphyria.
Dietary modifications: Participating in programs that were designed to help people develop healthy lifestyles by eating nutrient rich, well-balanced food to increase their general wellbeing and health. Advice patients about fasting and strict diets which contained acute porphyria.
 Limit Alcohol Consumption: Cutting down on the amount of alcohol having been established that its intake can plunge me into an acute episode.
Role of Blood components
The tissues and the blood components comprise a group of vital factors in treating Chester porphyria whereby heme preparation is administered during the acute forms of such crises.
Heme Preparations: Heme arginate or hematin (hemin) products are injected intravenously to block the hepatic production of porphyrins in acute forms of neurovisceral attacks. These heme preparations act as a substrate of enzyme ferrochelatase, that results in an increased level of heme in the liver, consequently causing feedback inhibition on delta-aminolevulinic acid synthase, which in turn decreases the porphyrins production.
Hence, the heme preparations is considered effective due to its ability to prevent the build-up of tooxic forms of porphyrin precursors. This subsequently is helpful in reducing situations that can lead to serious abdominal pain, nausea, vomiting, and neurological disturbances often associated with acute porphyric crises
A method of intervention that can be done through a surgical process, in other words a liver transplantation, can be the treatment indicated for Chester porphyria.
Liver transplantation becomes an option in severe cases of AIP and VP, once the standard medical treatment is insufficient to control the symptoms and prevent any more crises.
As Chester porphyria has similar clinical manifestations with AIP and VP, liver transplantation will be considered as a treatment option in extreme and deceasing cases of porphyria Chester.
Liver transplantation is a process of removing the patient ‘s damaged liver and replace it with the perfectly healthy donor ‘s one.
Through this step, a connection to the enzymatic inadequacy that is the lasting reason for increased production of porphyrins at the liver level is created, and therefore, extends the occurrence of an acute porphyria attack.
Liver transplant is the only current curative procedure available for Chester porphyria where a new healthy liver will supply the patient with all needed enzymes for the heme pathway.
On the other hand, liver transplantation is a major surgery with some of the inherent risks like bleeding, infection, organ rejection and adverse effects of immunosuppressive drugs.
Hence, it is routinely prescribed in the treatment of critical patients with severe manifestations of porphyria which is not responsive to conservative medical approaches.
use-of-phases-in-managing-chester-porphyria
Chester porphyria is a condition consisting of liver dysfunction, leading to symptoms such as abdominal pain, nausea, vomiting and central nervous system affection.
The disease is managed through acute phase management including the heme preparation, pain relief drugs, antiemetic drugs, and intensive monitoring of vital signs and electrolyte levels.
The recovery phase involves long-term preventive measures to prevent future attacks and also manage the symptoms.
People with depression may respond differently to the treatment, while the alcohol, smoking, and metabolic abnormalities are very crucial to avoid them entirely.
Additionally routine examinations of healthcare providers are also done. The disease also has associated problems like malignant hypertension, renal failure and neurological symptoms.
Genetic counseling is provided to affected individuals and families, including family planning.
Porphyria are genetic metabolic disorders with specific enzymatic deficiencies that are part of the heme biosynthesis pathway. Chester porphyria, which represents a unique sub-type characterizes itself by the symptoms of Acute intermittent porphyria (AIP) and the biochemical abnormalities found in both AIP and Variegate porphyria(VP).
The first documented historical record of the Chester porphyria dates to 1963 and has been indicated by an anesthetist from the town of Chester in England, which is why it was called Chester porphyria. The genesis case of that one person, born Peter Dobson in 1867 in Chester, was the first in the world to exhibit it. After all, many relatives exhibited similar symptoms, and that is why the family called it “Dobson’s complaint”, to which it was impossible to give any explanation.
It is rare and has only been reported in the English city of Chester
Acute intermittent porphyria can also be differentiated from variegate porphyria by the excretion pattern of urine-porphyrins, which might be otherwise observed differentially in these closely related diseases. In Chester porphyria, the enzymatic activity of porphobilinogen deaminase, which would normally be reduced as in acute intermittent porphyria, as well of protoporphyrinogen oxidase, which is normally reduced in variegate porphyria, are also reduced. This condition is marked by neurovisceral dysfunction episodes, which are also present in all other acute porphyrias.
Genetic investigations found that genes residing on chromosomal arm 11q and a gene responsible for the Chester porphyria disease are in the same place on the genome.
Chester porphyria is a disease which is triggered by the consumption of alcohol, tricyclic antidepressants, aluminum hydroxide, and other accumulated drugs which can lead to high risk.
The consequences from surgery, smoking, and metabolic conditions like low sodium levels or hyponatremia are also considered.
The mortality rate of Chester porphyria is probably high enough with the majority of patients experiencing morbid symptoms. In the Chester family many members having high blood pressure with chronic kidney disease also got diagnosed. The Chester porphyria-related painful crises can be described as a major source of morbidity in such patients. An analysis of the family’s pedigree shows that 14 people manifested with peripheral motor neuropathy, from which six suffered from bulbar palsy, and the rest of them rather passed away. Chester porphyria is characterized by various severe conditions like:
Hypertension
Renal failure
Intracerebral hemorrhage
Bulbar palsy
Retinal hemorrhage2.
AgeGroup: Symptoms can appear at any age, although they usually do so in adults.
Skin: Unlike the other porphyria’s, there also are no specific skin lesions or photosensitivities. Nonetheless, there may be chronic signs of solar radiation in other cases.
Neurological Examination: Evaluation of bulbar palsy which is manifested by slurred speech and facial muscle weakness.
Abdomen: Evaluated by the doctor through palpation for tenderness, guarding, or rebound tenderness; these findings will aid in identifying the acute porphyria crises. It is not so common for these clinical symptoms to be associated with Chester porphyria.
Blood Pressure: Measurement for signs of hypertension, a pathology that is mostly associated with Chester porphyria disease.
Hypertension andrenal illness are typical coexisting conditions in affected families. Certain drugs, drinking alcohol, smoking,having surgery, and having aberrant metabolic processes can all trigger porphyric crises.
Acute Intermittent Porphyria
Diabetic Ketoacidosis (DKA)
Hereditary Coproporphyria
ALA Dehydratase Deficiency Porphyria
Arsenic Toxicity
Emergent Management of Lead Toxicity
Polyarteritis Nodosa
Acute Management of Porphyric Crises: Intravenous administration of heme preparations to suppress hepatic porphyrin synthesis. Symptomatic relief with analgesics, antiemetics, and supportive measures.
Neurological Support: Rehabilitation therapy improves muscle strength and mobility in peripheral motor neuropathy patients, while speech therapy and nutritional support address swallowing difficulties and prevent malnutrition in bulbar palsy patients.
Research and Clinical Trials: Participation in research studies and clinical trials focusing on novel treatment approaches and therapeutic interventions for porphyria disorders, including Chester porphyria.
Hematology
Dietary modifications: Participating in programs that were designed to help people develop healthy lifestyles by eating nutrient rich, well-balanced food to increase their general wellbeing and health. Advice patients about fasting and strict diets which contained acute porphyria.
 Limit Alcohol Consumption: Cutting down on the amount of alcohol having been established that its intake can plunge me into an acute episode.
Hematology
The tissues and the blood components comprise a group of vital factors in treating Chester porphyria whereby heme preparation is administered during the acute forms of such crises.
Heme Preparations: Heme arginate or hematin (hemin) products are injected intravenously to block the hepatic production of porphyrins in acute forms of neurovisceral attacks. These heme preparations act as a substrate of enzyme ferrochelatase, that results in an increased level of heme in the liver, consequently causing feedback inhibition on delta-aminolevulinic acid synthase, which in turn decreases the porphyrins production.
Hence, the heme preparations is considered effective due to its ability to prevent the build-up of tooxic forms of porphyrin precursors. This subsequently is helpful in reducing situations that can lead to serious abdominal pain, nausea, vomiting, and neurological disturbances often associated with acute porphyric crises
Hematology
A method of intervention that can be done through a surgical process, in other words a liver transplantation, can be the treatment indicated for Chester porphyria.
Liver transplantation becomes an option in severe cases of AIP and VP, once the standard medical treatment is insufficient to control the symptoms and prevent any more crises.
As Chester porphyria has similar clinical manifestations with AIP and VP, liver transplantation will be considered as a treatment option in extreme and deceasing cases of porphyria Chester.
Liver transplantation is a process of removing the patient ‘s damaged liver and replace it with the perfectly healthy donor ‘s one.
Through this step, a connection to the enzymatic inadequacy that is the lasting reason for increased production of porphyrins at the liver level is created, and therefore, extends the occurrence of an acute porphyria attack.
Liver transplant is the only current curative procedure available for Chester porphyria where a new healthy liver will supply the patient with all needed enzymes for the heme pathway.
On the other hand, liver transplantation is a major surgery with some of the inherent risks like bleeding, infection, organ rejection and adverse effects of immunosuppressive drugs.
Hence, it is routinely prescribed in the treatment of critical patients with severe manifestations of porphyria which is not responsive to conservative medical approaches.
Hematology
Chester porphyria is a condition consisting of liver dysfunction, leading to symptoms such as abdominal pain, nausea, vomiting and central nervous system affection.
The disease is managed through acute phase management including the heme preparation, pain relief drugs, antiemetic drugs, and intensive monitoring of vital signs and electrolyte levels.
The recovery phase involves long-term preventive measures to prevent future attacks and also manage the symptoms.
People with depression may respond differently to the treatment, while the alcohol, smoking, and metabolic abnormalities are very crucial to avoid them entirely.
Additionally routine examinations of healthcare providers are also done. The disease also has associated problems like malignant hypertension, renal failure and neurological symptoms.
Genetic counseling is provided to affected individuals and families, including family planning.
Porphyria are genetic metabolic disorders with specific enzymatic deficiencies that are part of the heme biosynthesis pathway. Chester porphyria, which represents a unique sub-type characterizes itself by the symptoms of Acute intermittent porphyria (AIP) and the biochemical abnormalities found in both AIP and Variegate porphyria(VP).
The first documented historical record of the Chester porphyria dates to 1963 and has been indicated by an anesthetist from the town of Chester in England, which is why it was called Chester porphyria. The genesis case of that one person, born Peter Dobson in 1867 in Chester, was the first in the world to exhibit it. After all, many relatives exhibited similar symptoms, and that is why the family called it “Dobson’s complaint”, to which it was impossible to give any explanation.
It is rare and has only been reported in the English city of Chester
Acute intermittent porphyria can also be differentiated from variegate porphyria by the excretion pattern of urine-porphyrins, which might be otherwise observed differentially in these closely related diseases. In Chester porphyria, the enzymatic activity of porphobilinogen deaminase, which would normally be reduced as in acute intermittent porphyria, as well of protoporphyrinogen oxidase, which is normally reduced in variegate porphyria, are also reduced. This condition is marked by neurovisceral dysfunction episodes, which are also present in all other acute porphyrias.
Genetic investigations found that genes residing on chromosomal arm 11q and a gene responsible for the Chester porphyria disease are in the same place on the genome.
Chester porphyria is a disease which is triggered by the consumption of alcohol, tricyclic antidepressants, aluminum hydroxide, and other accumulated drugs which can lead to high risk.
The consequences from surgery, smoking, and metabolic conditions like low sodium levels or hyponatremia are also considered.
The mortality rate of Chester porphyria is probably high enough with the majority of patients experiencing morbid symptoms. In the Chester family many members having high blood pressure with chronic kidney disease also got diagnosed. The Chester porphyria-related painful crises can be described as a major source of morbidity in such patients. An analysis of the family’s pedigree shows that 14 people manifested with peripheral motor neuropathy, from which six suffered from bulbar palsy, and the rest of them rather passed away. Chester porphyria is characterized by various severe conditions like:
Hypertension
Renal failure
Intracerebral hemorrhage
Bulbar palsy
Retinal hemorrhage2.
AgeGroup: Symptoms can appear at any age, although they usually do so in adults.
Skin: Unlike the other porphyria’s, there also are no specific skin lesions or photosensitivities. Nonetheless, there may be chronic signs of solar radiation in other cases.
Neurological Examination: Evaluation of bulbar palsy which is manifested by slurred speech and facial muscle weakness.
Abdomen: Evaluated by the doctor through palpation for tenderness, guarding, or rebound tenderness; these findings will aid in identifying the acute porphyria crises. It is not so common for these clinical symptoms to be associated with Chester porphyria.
Blood Pressure: Measurement for signs of hypertension, a pathology that is mostly associated with Chester porphyria disease.
Hypertension andrenal illness are typical coexisting conditions in affected families. Certain drugs, drinking alcohol, smoking,having surgery, and having aberrant metabolic processes can all trigger porphyric crises.
Acute Intermittent Porphyria
Diabetic Ketoacidosis (DKA)
Hereditary Coproporphyria
ALA Dehydratase Deficiency Porphyria
Arsenic Toxicity
Emergent Management of Lead Toxicity
Polyarteritis Nodosa
Acute Management of Porphyric Crises: Intravenous administration of heme preparations to suppress hepatic porphyrin synthesis. Symptomatic relief with analgesics, antiemetics, and supportive measures.
Neurological Support: Rehabilitation therapy improves muscle strength and mobility in peripheral motor neuropathy patients, while speech therapy and nutritional support address swallowing difficulties and prevent malnutrition in bulbar palsy patients.
Research and Clinical Trials: Participation in research studies and clinical trials focusing on novel treatment approaches and therapeutic interventions for porphyria disorders, including Chester porphyria.
Hematology
Dietary modifications: Participating in programs that were designed to help people develop healthy lifestyles by eating nutrient rich, well-balanced food to increase their general wellbeing and health. Advice patients about fasting and strict diets which contained acute porphyria.
 Limit Alcohol Consumption: Cutting down on the amount of alcohol having been established that its intake can plunge me into an acute episode.
Hematology
The tissues and the blood components comprise a group of vital factors in treating Chester porphyria whereby heme preparation is administered during the acute forms of such crises.
Heme Preparations: Heme arginate or hematin (hemin) products are injected intravenously to block the hepatic production of porphyrins in acute forms of neurovisceral attacks. These heme preparations act as a substrate of enzyme ferrochelatase, that results in an increased level of heme in the liver, consequently causing feedback inhibition on delta-aminolevulinic acid synthase, which in turn decreases the porphyrins production.
Hence, the heme preparations is considered effective due to its ability to prevent the build-up of tooxic forms of porphyrin precursors. This subsequently is helpful in reducing situations that can lead to serious abdominal pain, nausea, vomiting, and neurological disturbances often associated with acute porphyric crises
Hematology
A method of intervention that can be done through a surgical process, in other words a liver transplantation, can be the treatment indicated for Chester porphyria.
Liver transplantation becomes an option in severe cases of AIP and VP, once the standard medical treatment is insufficient to control the symptoms and prevent any more crises.
As Chester porphyria has similar clinical manifestations with AIP and VP, liver transplantation will be considered as a treatment option in extreme and deceasing cases of porphyria Chester.
Liver transplantation is a process of removing the patient ‘s damaged liver and replace it with the perfectly healthy donor ‘s one.
Through this step, a connection to the enzymatic inadequacy that is the lasting reason for increased production of porphyrins at the liver level is created, and therefore, extends the occurrence of an acute porphyria attack.
Liver transplant is the only current curative procedure available for Chester porphyria where a new healthy liver will supply the patient with all needed enzymes for the heme pathway.
On the other hand, liver transplantation is a major surgery with some of the inherent risks like bleeding, infection, organ rejection and adverse effects of immunosuppressive drugs.
Hence, it is routinely prescribed in the treatment of critical patients with severe manifestations of porphyria which is not responsive to conservative medical approaches.
Hematology
Chester porphyria is a condition consisting of liver dysfunction, leading to symptoms such as abdominal pain, nausea, vomiting and central nervous system affection.
The disease is managed through acute phase management including the heme preparation, pain relief drugs, antiemetic drugs, and intensive monitoring of vital signs and electrolyte levels.
The recovery phase involves long-term preventive measures to prevent future attacks and also manage the symptoms.
People with depression may respond differently to the treatment, while the alcohol, smoking, and metabolic abnormalities are very crucial to avoid them entirely.
Additionally routine examinations of healthcare providers are also done. The disease also has associated problems like malignant hypertension, renal failure and neurological symptoms.
Genetic counseling is provided to affected individuals and families, including family planning.
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