Materiały źródłowe

• #1 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] Pseudocholinesterase deficiency is often only diagnosed after the patient experiences prolonged neuromuscular blockade following standard doses of succinylcholine or mivacurium. […] Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Quantitative testing is done to determine the actual amount of pseudocholinesterase present in the sample and is performed using colorimetry. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium.

• #2 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. […] People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. […] Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. […] Pseudocholinesterase deficiency can also have nongenetic causes. […] When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. […] Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. […] Genetic Testing Registry: Deficiency of butyrylcholinesterase.

• #3 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency may be suspected when you have problems recovering muscle control and breathing after you get the muscle relaxant succinylcholine as part of anesthesia. A blood test can tell if you have enough of the pseudocholinesterase enzyme. […] To diagnose inherited pseudocholinesterase deficiency, the gene change that causes the disorder is identified using genetic testing. A sample of your blood is collected and sent to a lab for analysis. Ask your health care provider if family members should be tested before surgery as well.

• #4 Pseudocholinesterase Deficiency: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/pseudocholinesterase-deficiency

  Your healthcare provider may suspect pseudocholinesterase deficiency if you have difficulty regaining muscle control and breathing after general anesthesia. To confirm your diagnosis, they can run a blood test to check your pseudocholinesterase enzyme levels. […] If you have a family member with the condition, a healthcare provider can do genetic testing to find out if you have it, too. This test uses a blood sample to determine whether you have a BCHE gene mutation. […] If your provider suspects you have this condition, they can use other types of muscle relaxants that dont depend on the pseudocholinesterase enzyme.

• #5 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, is an inherited enzyme abnormality that results in abnormally slow metabolic degradation of exogenous choline ester drugs such as succinylcholine and mivacurium. […] A personal or family history of an adverse drug reaction to one of the choline ester compounds such as succinylcholine, mivacurium, or cocaine may be the only clue suggesting pseudocholinesterase deficiency. […] The diagnosis is confirmed by a laboratory assay demonstrating decreased plasma cholinesterase enzyme activity. […] Genetic analysis may reveal several allelic mutations in the pseudocholinesterase gene, including point mutations resulting in abnormal enzyme structure and function and frameshift or stop codon mutations resulting in absent enzyme synthesis.

• #6 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. […] Pseudocholinesterase deficiency is of importance to anesthesiologists because patients with this deficiency will exhibit prolonged paralysis with the aforementioned agents leading to continued mechanical ventilation hours after surgical completion. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation.

• #7 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  To rule out PChE deficiency, recovery of neuromuscular function must be documented after succinylcholine administration and before administering a nondepolarizing neuromuscular blocking agent. […] The dibucaine number identifies any variants of PChE deficiency by percent of inhibition: Normal variant will have a dibucaine number of 80%, with a range of 71-85%; Heterozygotes will have a 50-60% dibucaine number; Homozygotes will have a 20-30% dibucaine number. […] The dibucaine number and pseudocholinesterase levels should be drawn for any patients with a suspected enzyme deficiency. […] Pseudocholinesterase levels should be drawn after a patient has full muscle recovery. Enzyme activity can be affected by the amount of anesthetic administered to the patient. The dibucaine number will not be affected. […] Family members should be tested as well.

• #8 Pseudocholinesterase Deficiency Workup: Laboratory Studies

  https://emedicine.medscape.com/article/247019-workup

  Pseudocholinesterase deficiency is diagnosed by plasma assays of pseudocholinesterase enzyme activity. A sample of the patient’s plasma is incubated with the substrate butyrylthiocholine, along with the indicator chemical 5,5′-dithiobis-(2-nitrobenzoic acid), which produces a colored product that is assayed by spectrophotometry. The resulting amount of spectrophotometric absorption is proportionate to the pseudocholinesterase enzyme activity that is present in the patient’s plasma sample. […] Because succinylcholine metabolites can interfere with this assay, plasma samples should be collected after muscle paralysis has completely resolved. Dibucaine and fluoride numbers can be determined by repeating this assay in the presence of standard aliquots of either dibucaine (0.03 mmol/L) or fluoride (4 mmol/L) in the reaction mixture to determine the percentage inhibition of enzyme activity caused by these agents.

• #9 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] Pseudocholinesterase deficiency is often only diagnosed after the patient experiences prolonged neuromuscular blockade following standard doses of succinylcholine or mivacurium. […] Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Quantitative testing is done to determine the actual amount of pseudocholinesterase present in the sample and is performed using colorimetry. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium.

• #10 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] A subsequent dibucaine number confirmed the diagnosis. Dibucaine number indicates zygosity and genetic origin of disease. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested. Testing can be done with a dibucaine number as mentioned above, or providers can send for a plasma pseudocholinesterase level.

• #11 Pseudocholinesterase Deficiency: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/pseudocholinesterase-deficiency

  Your healthcare provider may suspect pseudocholinesterase deficiency if you have difficulty regaining muscle control and breathing after general anesthesia. To confirm your diagnosis, they can run a blood test to check your pseudocholinesterase enzyme levels. […] If you have a family member with the condition, a healthcare provider can do genetic testing to find out if you have it, too. This test uses a blood sample to determine whether you have a BCHE gene mutation. […] If your provider suspects you have this condition, they can use other types of muscle relaxants that dont depend on the pseudocholinesterase enzyme.

• #12 Pseudocholinesterase Deficiency Workup: Laboratory Studies

  https://emedicine.medscape.com/article/247019-workup

  Pseudocholinesterase deficiency is diagnosed by plasma assays of pseudocholinesterase enzyme activity. A sample of the patient’s plasma is incubated with the substrate butyrylthiocholine, along with the indicator chemical 5,5′-dithiobis-(2-nitrobenzoic acid), which produces a colored product that is assayed by spectrophotometry. The resulting amount of spectrophotometric absorption is proportionate to the pseudocholinesterase enzyme activity that is present in the patient’s plasma sample. […] Because succinylcholine metabolites can interfere with this assay, plasma samples should be collected after muscle paralysis has completely resolved. Dibucaine and fluoride numbers can be determined by repeating this assay in the presence of standard aliquots of either dibucaine (0.03 mmol/L) or fluoride (4 mmol/L) in the reaction mixture to determine the percentage inhibition of enzyme activity caused by these agents.

• #13 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] Pseudocholinesterase deficiency is often only diagnosed after the patient experiences prolonged neuromuscular blockade following standard doses of succinylcholine or mivacurium. […] Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Quantitative testing is done to determine the actual amount of pseudocholinesterase present in the sample and is performed using colorimetry. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium.

• #14 Pseudocholinesterase Deficiency: A Case Report and Literature Review

  https://file.scirp.org/Html/21-1920056_22247.htm

  Pseudocholinesterase (PChE), also referred to as butyrylcholinesterase, serum cholinesterase, plasma cholinesterase, and false cholinesterase, is a liver-derived plasma protein capable of hydrolyzing esters including muscle relaxants (i.e. succinylcholine, atracurium, mivacurium) and ester type local anesthetics (i.e. procaine, chloroprocaine, tetracaine, cocaine) with a serum half-life of eight to 12 days. A deficiency of this enzyme, either inherited and/or acquired, can lead to significantly pro-longed activity of these medications. […] Given the use of succinylcholine and the patient’s otherwise unremarkable preoperative condition, PChE deficiency was suspected. A blood sample was submitted to measure serum PChE level. […] The serum PChE level submitted during surgery was 1100 IU/L (normal 3300 – 7600 IU/L), supporting the diagnosis of PChE deficiency.

• #15 What Is Pseudocholinesterase Deficiency?

  https://www.icliniq.com/articles/genetic-disorders/pseudocholinesterase-deficiency

  Biochemical Assays: Serum pseudocholinesterase activity determines if there is a quantitative defect in enzyme activity. The normal levels ranged between 3,200 to 6,600 IU/L. […] Molecular Testing Like PCR (Polymerase Chain Reaction): This can be done to determine the qualitative and quantitative variants of the enzyme.

• #16 Pseudocholinesterase Deficiency Workup: Laboratory Studies

  https://emedicine.medscape.com/article/247019-workup

  Pseudocholinesterase deficiency is diagnosed by plasma assays of pseudocholinesterase enzyme activity. A sample of the patient’s plasma is incubated with the substrate butyrylthiocholine, along with the indicator chemical 5,5′-dithiobis-(2-nitrobenzoic acid), which produces a colored product that is assayed by spectrophotometry. The resulting amount of spectrophotometric absorption is proportionate to the pseudocholinesterase enzyme activity that is present in the patient’s plasma sample. […] Because succinylcholine metabolites can interfere with this assay, plasma samples should be collected after muscle paralysis has completely resolved. Dibucaine and fluoride numbers can be determined by repeating this assay in the presence of standard aliquots of either dibucaine (0.03 mmol/L) or fluoride (4 mmol/L) in the reaction mixture to determine the percentage inhibition of enzyme activity caused by these agents.

• #17 Pseudocholinesterase Deficiency: A Case Report and Literature Review

  https://file.scirp.org/Html/21-1920056_22247.htm

  To verify a suspected PChE deficiency, one should first obtain a serum PChE level, the normal reference range being 3300 – 7600 IU/L. Of note, a repeated test approximately one week or more after exposure to the offending agents is warranted for confirmation, because PChE level can be artificially decreased initially. […] From a practical standpoint, PChE level and DN have been shown to be sufficient in determining a genetic origin of PChE deficiency. However, molecular testing is also available, including gel-electrophoresis and immunoelectrophoresis, and this method has been shown to improve biological diagnosis in one-third of patients; however, the clinical implications are lacking. […] If PChE deficiency is suspected, the patient and family should be counseled with recommendation of further diagnostic tests and a Medic Alert bracelet should be issued.

• #18 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  To rule out PChE deficiency, recovery of neuromuscular function must be documented after succinylcholine administration and before administering a nondepolarizing neuromuscular blocking agent. […] The dibucaine number identifies any variants of PChE deficiency by percent of inhibition: Normal variant will have a dibucaine number of 80%, with a range of 71-85%; Heterozygotes will have a 50-60% dibucaine number; Homozygotes will have a 20-30% dibucaine number. […] The dibucaine number and pseudocholinesterase levels should be drawn for any patients with a suspected enzyme deficiency. […] Pseudocholinesterase levels should be drawn after a patient has full muscle recovery. Enzyme activity can be affected by the amount of anesthetic administered to the patient. The dibucaine number will not be affected. […] Family members should be tested as well.

• #19 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] A subsequent dibucaine number confirmed the diagnosis. Dibucaine number indicates zygosity and genetic origin of disease. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested. Testing can be done with a dibucaine number as mentioned above, or providers can send for a plasma pseudocholinesterase level.

• #20 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php

  A subsequent dibucaine number confirmed the diagnosis. […] Dibucaine number indicates zygosity and genetic origin of disease. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #21 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  To rule out PChE deficiency, recovery of neuromuscular function must be documented after succinylcholine administration and before administering a nondepolarizing neuromuscular blocking agent. […] The dibucaine number identifies any variants of PChE deficiency by percent of inhibition: Normal variant will have a dibucaine number of 80%, with a range of 71-85%; Heterozygotes will have a 50-60% dibucaine number; Homozygotes will have a 20-30% dibucaine number. […] The dibucaine number and pseudocholinesterase levels should be drawn for any patients with a suspected enzyme deficiency. […] Pseudocholinesterase levels should be drawn after a patient has full muscle recovery. Enzyme activity can be affected by the amount of anesthetic administered to the patient. The dibucaine number will not be affected. […] Family members should be tested as well.

• #22 Pseudocholinesterase Deficiency Workup: Laboratory Studies

  https://emedicine.medscape.com/article/247019-workup

  A simplified screening test of pseudocholinesterase enzyme activity can be performed using the Acholest Test Paper. When a drop of the patient’s plasma is applied to the substrate-impregnated test paper, a colorimetric reaction occurs. The time it takes the exposed Acholest Test Paper to turn from green to yellow is inversely proportionate to pseudocholinesterase enzyme activity in the plasma sample. […] The complete DNA sequence and amino acid structure of both the normal pseudocholinesterase protein and most of its abnormal variants have now been identified. However, molecular genetic techniques such as polymerase chain reaction (PCR) amplification with allele-specific oligonucleotide probes for identifying abnormal pseudocholinesterase genotypes are currently available only in a limited number of research laboratories and are not yet available for routine clinical use.

• #23 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase (butyrylcholine esterase) deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. In correlation to the level/variant of BuChE deficiency, patients exposed to these neuromuscular blockade agents may experience an amplified duration of apnea and paralysis ranging from mild to extreme. […] The diagnosis of pseudocholinesterase deficiency most commonly occurs through family history and clinical context of prolonged apnea and paralysis following depolarizing neuromuscular blockade via succinylcholine. With an autosomal recessive inheritance pattern and a heterozygous gene frequency ranging from 1 in 25 to 1 in 50, family members of known homozygotes must undergo testing for the presence of an altered BCHE gene. […] Confirmation of BuChE deficiency may occur through gene sequencing of the coding gene, BCHE, located at 3q26.1, via techniques such as deletion or duplication analysis, targeted variant analysis, or sequence analysis of the entire gene coding region.

• #24 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. […] People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. […] Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. […] Pseudocholinesterase deficiency can also have nongenetic causes. […] When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. […] Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. […] Genetic Testing Registry: Deficiency of butyrylcholinesterase.

• #25 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase (butyrylcholine esterase) deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. In correlation to the level/variant of BuChE deficiency, patients exposed to these neuromuscular blockade agents may experience an amplified duration of apnea and paralysis ranging from mild to extreme. […] The diagnosis of pseudocholinesterase deficiency most commonly occurs through family history and clinical context of prolonged apnea and paralysis following depolarizing neuromuscular blockade via succinylcholine. With an autosomal recessive inheritance pattern and a heterozygous gene frequency ranging from 1 in 25 to 1 in 50, family members of known homozygotes must undergo testing for the presence of an altered BCHE gene. […] Confirmation of BuChE deficiency may occur through gene sequencing of the coding gene, BCHE, located at 3q26.1, via techniques such as deletion or duplication analysis, targeted variant analysis, or sequence analysis of the entire gene coding region.

• #26 Pseudocholinesterase Deficiency Workup: Laboratory Studies

  https://emedicine.medscape.com/article/247019-workup

  A simplified screening test of pseudocholinesterase enzyme activity can be performed using the Acholest Test Paper. When a drop of the patient’s plasma is applied to the substrate-impregnated test paper, a colorimetric reaction occurs. The time it takes the exposed Acholest Test Paper to turn from green to yellow is inversely proportionate to pseudocholinesterase enzyme activity in the plasma sample. […] The complete DNA sequence and amino acid structure of both the normal pseudocholinesterase protein and most of its abnormal variants have now been identified. However, molecular genetic techniques such as polymerase chain reaction (PCR) amplification with allele-specific oligonucleotide probes for identifying abnormal pseudocholinesterase genotypes are currently available only in a limited number of research laboratories and are not yet available for routine clinical use.

• #27 Pseudocholinesterase Deficiency: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/pseudocholinesterase-deficiency

  Your healthcare provider may suspect pseudocholinesterase deficiency if you have difficulty regaining muscle control and breathing after general anesthesia. To confirm your diagnosis, they can run a blood test to check your pseudocholinesterase enzyme levels. […] If you have a family member with the condition, a healthcare provider can do genetic testing to find out if you have it, too. This test uses a blood sample to determine whether you have a BCHE gene mutation. […] If your provider suspects you have this condition, they can use other types of muscle relaxants that dont depend on the pseudocholinesterase enzyme.

• #28 Pseudocholinesterase Deficiency – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/cat/health-library/pseudocholinesterase-deficiency/

  Getting a correct diagnosis of pseudocholinesterase deficiency is key. It helps in managing the patient well and avoiding problems with anesthesia. There are several ways to confirm this genetic disorder. […] The dibucaine number test is a common tool for diagnosing this condition. It checks how the enzyme reacts to dibucaine. People with the disorder usually have a lower dibucaine number than those without it. But, this test might miss some cases. […] An enzyme assay directly tests the pseudocholinesterase in blood. It gives a clear picture of how well the enzyme works. This test is great when the dibucaine number test is not clear. […] Genetic testing is a precise way to diagnose pseudocholinesterase deficiency. It looks at the patients DNA to find the BCHE gene mutations. This not only confirms the diagnosis but also helps plan treatment and advise family members. […] Using these methods together with a detailed patient history and clinical check-up helps doctors accurately diagnose pseudocholinesterase deficiency. This way, they can create the right treatment plans.

• #29 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium. The mainstay of treatment involves respiratory support with mechanical ventilation until the spontaneous resolution of neuromuscular blockade. […] The differential diagnosis for pseudocholinesterase deficiency include, but not limited to: Narcotic overdose, Residual neuromuscular blockade, Cholinergic crisis, Myasthenia gravis, Myasthenic syndrome, Hypermagnesemia, Hypophosphatemia, Hypokalemia. […] Pseudocholinesterase deficiency is a clinical condition that is often only discovered after exposure to succinylcholine or mivacurium. Patients diagnosed with pseudocholinesterase deficiency after exposure to succinylcholine or mivacurium are expected to make a full recovery, following the spontaneous return of motor function. […] Individuals diagnosed with pseudocholinesterase deficiency should inform their doctor and anesthesia provider of their condition before any surgery.

• #30 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency may be suspected when you have problems recovering muscle control and breathing after you get the muscle relaxant succinylcholine as part of anesthesia. A blood test can tell if you have enough of the pseudocholinesterase enzyme. […] To diagnose inherited pseudocholinesterase deficiency, the gene change that causes the disorder is identified using genetic testing. A sample of your blood is collected and sent to a lab for analysis. Ask your health care provider if family members should be tested before surgery as well.

• #31 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  To rule out PChE deficiency, recovery of neuromuscular function must be documented after succinylcholine administration and before administering a nondepolarizing neuromuscular blocking agent. […] The dibucaine number identifies any variants of PChE deficiency by percent of inhibition: Normal variant will have a dibucaine number of 80%, with a range of 71-85%; Heterozygotes will have a 50-60% dibucaine number; Homozygotes will have a 20-30% dibucaine number. […] The dibucaine number and pseudocholinesterase levels should be drawn for any patients with a suspected enzyme deficiency. […] Pseudocholinesterase levels should be drawn after a patient has full muscle recovery. Enzyme activity can be affected by the amount of anesthetic administered to the patient. The dibucaine number will not be affected. […] Family members should be tested as well.

• #32 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. […] People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. […] Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. […] Pseudocholinesterase deficiency can also have nongenetic causes. […] When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. […] Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. […] Genetic Testing Registry: Deficiency of butyrylcholinesterase.

• #33 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php

  A subsequent dibucaine number confirmed the diagnosis. […] Dibucaine number indicates zygosity and genetic origin of disease. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #34 Pseudocholinesterase Deficiency: Symptoms & Treatment

  https://www.medicoverhospitals.in/diseases/pseudocholinesterase-deficiency/

  The diagnosis of pseudocholinesterase deficiency often involves a combination of clinical evaluation and laboratory tests. A thorough medical history, particularly family history, is essential. Blood tests can measure the activity level of the pseudocholinesterase enzyme, confirming the diagnosis. […] Genetic testing can identify specific mutations responsible for the deficiency in inherited cases. This testing is beneficial not only for confirming a diagnosis but also for family planning and assessing the risk in relatives. […] Diagnosis often involves blood tests to assess enzyme levels, along with a medical history review to identify any previous reactions to anesthesia.

• #35 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] Pseudocholinesterase deficiency is often only diagnosed after the patient experiences prolonged neuromuscular blockade following standard doses of succinylcholine or mivacurium. […] Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Quantitative testing is done to determine the actual amount of pseudocholinesterase present in the sample and is performed using colorimetry. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium.

• #36 Cholinesterase Tests – Testing.com

  https://www.testing.com/tests/cholinesterase-test/

  Sometimes to identify individuals with inherited pseudocholinesterase deficiency before they are given anesthesia with the muscle relaxant succinylcholine or to help determine the cause of prolonged apnea after surgical anesthesia. […] Pseudocholinesterase testing can be performed prior to surgery on those with a family history of prolonged apnea after use of succinylcholine to determine if they are at risk of complications related to this drug. […] Pre-operative screening for pseudocholinesterase activity is advised if a person or a close relative has experienced prolonged paralysis and apnea after the use of succinylcholine for anesthesia during an operation. […] About 3% of people have low activity levels of pseudocholinesterase due to an inherited deficiency and will have prolonged effects from the muscle relaxant succinylcholine. Total quantitative pseudocholinesterase levels will be evaluated prior to surgery for patients with a history or family history of prolonged apnea after use of this drug. Low activity levels of pseudocholinesterase levels indicate that these people may be at increased risk of experiencing prolonged effects of the muscle relaxant. A second test, the dibucaine inhibition test, may also be performed to help characterize the degree of a person’s sensitivity to the drug.

• #37 Cholinesterase Tests – Testing.com

  https://www.testing.com/tests/cholinesterase-test/

  Sometimes to identify individuals with inherited pseudocholinesterase deficiency before they are given anesthesia with the muscle relaxant succinylcholine or to help determine the cause of prolonged apnea after surgical anesthesia. […] Pseudocholinesterase testing can be performed prior to surgery on those with a family history of prolonged apnea after use of succinylcholine to determine if they are at risk of complications related to this drug. […] Pre-operative screening for pseudocholinesterase activity is advised if a person or a close relative has experienced prolonged paralysis and apnea after the use of succinylcholine for anesthesia during an operation. […] About 3% of people have low activity levels of pseudocholinesterase due to an inherited deficiency and will have prolonged effects from the muscle relaxant succinylcholine. Total quantitative pseudocholinesterase levels will be evaluated prior to surgery for patients with a history or family history of prolonged apnea after use of this drug. Low activity levels of pseudocholinesterase levels indicate that these people may be at increased risk of experiencing prolonged effects of the muscle relaxant. A second test, the dibucaine inhibition test, may also be performed to help characterize the degree of a person’s sensitivity to the drug.

• #38 Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-025-05183-5

  This report outlines a case of pseudocholinesterase deficiency in a pediatric patient, whose autosomal recessive condition is caused by two different pathologic variants of the butyrylcholinesterase gene, resulting in a rare case of functional homozygosity. […] Genetic testing identified compound heterozygosity in the butyrylcholinesterase gene. Thus, a diagnosis of autosomal recessive hereditary pseudocholinesterase deficiency was made. […] Pseudocholinesterase deficiency will almost always present unexpectedly and must be included in the differential diagnosis of delayed emergence. Once suspected, a clinical diagnosis can be supported using a peripheral nerve stimulator, and confirmed using laboratory tests. Genetic testing can help determine the etiology of disease. […] Diagnostic tests for pseudocholinesterase deficiency are not part of a routine preoperative work-up, and patients are typically asymptomatic in their daily lives. Consequently, a diagnosis is not usually made until an individual fails to adequately recover from neuromuscular blockade following administration of succinylcholine or mivacurium.

• #39 Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-025-05183-5

  Suspected clinical diagnoses can be confirmed by laboratory tests. […] The clinical diagnosis was confirmed using laboratory tests. […] A timely working diagnosis of pseudocholinesterase deficiency is crucial, because it can help avoid unnecessary exposure to other medication (for example, naloxone, flumazenil, and physostigmine), and because the prognosis of pseudocholinesterase deficiency is excellent once supportive management has been initiated. […] To ensure a timely diagnosis, pseudocholinesterase deficiency must be included in the differential diagnosis of delayed emergence, and the combination of sustained paralysis despite indicators of increasingly light residual sedation or distress should immediately raise suspicions of an abnormal response to mivacurium or succinylcholine.

• #40 Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-025-05183-5

  Suspected clinical diagnoses can be confirmed by laboratory tests. […] The clinical diagnosis was confirmed using laboratory tests. […] A timely working diagnosis of pseudocholinesterase deficiency is crucial, because it can help avoid unnecessary exposure to other medication (for example, naloxone, flumazenil, and physostigmine), and because the prognosis of pseudocholinesterase deficiency is excellent once supportive management has been initiated. […] To ensure a timely diagnosis, pseudocholinesterase deficiency must be included in the differential diagnosis of delayed emergence, and the combination of sustained paralysis despite indicators of increasingly light residual sedation or distress should immediately raise suspicions of an abnormal response to mivacurium or succinylcholine.

• #41 Pseudocholinesterase Deficiency: A Case Report and Literature Review

  https://file.scirp.org/Html/21-1920056_22247.htm

  To verify a suspected PChE deficiency, one should first obtain a serum PChE level, the normal reference range being 3300 – 7600 IU/L. Of note, a repeated test approximately one week or more after exposure to the offending agents is warranted for confirmation, because PChE level can be artificially decreased initially. […] From a practical standpoint, PChE level and DN have been shown to be sufficient in determining a genetic origin of PChE deficiency. However, molecular testing is also available, including gel-electrophoresis and immunoelectrophoresis, and this method has been shown to improve biological diagnosis in one-third of patients; however, the clinical implications are lacking. […] If PChE deficiency is suspected, the patient and family should be counseled with recommendation of further diagnostic tests and a Medic Alert bracelet should be issued.

• #42 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  To rule out PChE deficiency, recovery of neuromuscular function must be documented after succinylcholine administration and before administering a nondepolarizing neuromuscular blocking agent. […] The dibucaine number identifies any variants of PChE deficiency by percent of inhibition: Normal variant will have a dibucaine number of 80%, with a range of 71-85%; Heterozygotes will have a 50-60% dibucaine number; Homozygotes will have a 20-30% dibucaine number. […] The dibucaine number and pseudocholinesterase levels should be drawn for any patients with a suspected enzyme deficiency. […] Pseudocholinesterase levels should be drawn after a patient has full muscle recovery. Enzyme activity can be affected by the amount of anesthetic administered to the patient. The dibucaine number will not be affected. […] Family members should be tested as well.

• #43 Pseudocholinesterase Deficiency: A Case Report and Literature Review

  https://file.scirp.org/Html/21-1920056_22247.htm

  To verify a suspected PChE deficiency, one should first obtain a serum PChE level, the normal reference range being 3300 – 7600 IU/L. Of note, a repeated test approximately one week or more after exposure to the offending agents is warranted for confirmation, because PChE level can be artificially decreased initially. […] From a practical standpoint, PChE level and DN have been shown to be sufficient in determining a genetic origin of PChE deficiency. However, molecular testing is also available, including gel-electrophoresis and immunoelectrophoresis, and this method has been shown to improve biological diagnosis in one-third of patients; however, the clinical implications are lacking. […] If PChE deficiency is suspected, the patient and family should be counseled with recommendation of further diagnostic tests and a Medic Alert bracelet should be issued.

• #44 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Laboratory analysis for pseudocholinesterase deficiency can be performed by taking a sample of the patients plasma and performing a qualitative test of pseudocholinesterase enzyme activity. […] Individuals with pseudocholinesterase deficiency are often only diagnosed after experiencing prolonged neuromuscular paralysis following standard doses of succinylcholine and mivacurium. The mainstay of treatment involves respiratory support with mechanical ventilation until the spontaneous resolution of neuromuscular blockade. […] The differential diagnosis for pseudocholinesterase deficiency include, but not limited to: Narcotic overdose, Residual neuromuscular blockade, Cholinergic crisis, Myasthenia gravis, Myasthenic syndrome, Hypermagnesemia, Hypophosphatemia, Hypokalemia. […] Pseudocholinesterase deficiency is a clinical condition that is often only discovered after exposure to succinylcholine or mivacurium. Patients diagnosed with pseudocholinesterase deficiency after exposure to succinylcholine or mivacurium are expected to make a full recovery, following the spontaneous return of motor function. […] Individuals diagnosed with pseudocholinesterase deficiency should inform their doctor and anesthesia provider of their condition before any surgery.

• #45 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Management for those previously diagnosed with pseudocholinesterase deficiency includes the avoidance of depolarizing the neuromuscular blocker succinylcholine and the non-depolarizing muscular blocker mivacurium. […] Pseudocholinesterase deficiency is a clinical condition that is often only discovered after exposure to succinylcholine or mivacurium. […] Patients diagnosed with pseudocholinesterase deficiency after exposure to succinylcholine or mivacurium are expected to make a full recovery, following the spontaneous return of motor function. […] Individuals diagnosed with pseudocholinesterase deficiency should inform their doctor and anesthesia provider of their condition before any surgery.

• #46 What Is Pseudocholinesterase Deficiency?

  https://www.icliniq.com/articles/genetic-disorders/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency is a rare, genetic, or acquired condition that alters the activity of the plasma enzyme pseudocholinesterase. […] Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, is an inherited or acquired condition in which the metabolism of certain choline ester drugs such as Succinylcholine, Mivacurium, and ester-linked local anesthetics is altered. […] Pseudocholinesterase deficiency causes increased sensitivity in individuals administered with choline ester muscle relaxant medications, specifically: Succinylcholine and Mivacurium. […] Pseudocholinesterase deficiency, whether inherited or acquired, should be considered by providers that administer Succinylcholine, including anesthesia, intensive care unit (ICU), emergency department, and perioperative personnel, including the nurses to the patients. Special screening should be done for pregnant women who have either genetic or acquired variants of the condition. Genetic tests and molecular tests should be done to make informed choices about the patients care plan.

• #47 Residual Muscle Weakness after Succinylcholine Infusion: Clinical Presentation, Diagnosis and Treatment

  https://austinpublishinggroup.com/anesthesia-analgesia/fulltext/ajaa-v2-id1022.php

  The presence of chronic malignancy increases the likelihood of pseudocholinesterase abnormality, including both quality and quantity, not to mention the possibility of genetic variant of pseudocholinesterase. […] Residual muscle weakness can take place following succinylcholine infusion even in patients with normal pseudocholinesterase level and activity. […] Neither the dose nor the duration of succinylcholine infusion serves as a reliable predictor for spontaneous recovery from phase II block or the need for antagonism of residual phase II block.

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