Materiały źródłowe

• #1 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

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

  Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives. […] Pseudocholinesterase deficiency can also have nongenetic causes. In these cases, the condition is called acquired pseudocholinesterase deficiency; it is not inherited and cannot be passed to the next generation.

• #2 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

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

  Pseudocholinesterase deficiency can be inherited as an autosomal recessive trait, occurring in approximately 1 in 3200 to 1 in 5000 people. […] The incidence of individuals who are homozygous for abnormal pseudocholinesterase enzyme variants is approximately 1 in 2000 to 1 in 5000. Heterozygosity for an abnormal variant occurs in approximately 1 in 500 individuals. The male-to-female ratio for atypical pseudocholinesterase enzyme expression is approximately 2:1. Populations reported to have higher prevalence of pseudocholinesterase deficiency include males of Northern European ancestry, individuals of Persian Jewish descent, and some Alaska Native groups.

• #3 Pseudocholinesterase Deficiency | Apollo Hospitals

  https://www.apollohospitals.com/diseases-and-conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency is found in 1 in 3200 patients or 1 in 5000 patients. […] If you have PCE deficiency, your muscles may stay immobilized for longer durations than required/expected. Excessively relaxed respiratory muscles may result in stopped breathing under anaesthesia. […] If PCE deficiency is caused by genetic factors such as mutations in the BCHE gene, then it is hereditary. An acquired PCE deficiency is not a hereditary disorder (it is caused by malnutrition, liver diseases, etc).

• #4 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #5 Pseudocholinesterase Deficiency – OpenAnesthesia

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

  Pseudocholinesterase deficiency is inherited in an autosomal recessive manner. […] Mutations are more common in certain populations. […] There is a male-to-female ratio of 2:1. […] Deficiency of PChE can be inherited (as an autosomal recessive trait), acquired, or iatrogenic. […] Acquired deficiency can be due to: Advanced age, Pregnancy, Kidney disease, Malnutrition, Liver disease, Cancer, Collagen vascular disease, Burns, Hypothyroidism. […] The differential diagnosis of PChE deficiency is broad and includes: Narcotic overdose, Myasthenia gravis, Myasthenia crisis, Hypermagnesemia, Hypophosphatemia, Hypokalemia, Hypothermia can cause prolonged blockade. […] There are no current treatments in the United States for PChE deficiency.

• #6 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

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

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

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

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

  The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

• #8 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  Pseudocholinesterase enzyme deficiency is a condition that affects roughly 1 out of every 2000 to 5000 people who have two copies of the abnormal gene (homozygotes). […] For those with one abnormal gene copy (heterozygotes), the rate of incidence is about 1 out of every 500 people. […] Interestingly, this condition affects males twice as much as females. […] Certain groups have a higher likelihood of having pseudocholinesterase deficiency, including males of European descent, Persian people from the Jewish community, and some Alaska Natives.

• #9 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

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

  Pseudocholinesterase deficiency can be inherited as an autosomal recessive trait, occurring in approximately 1 in 3200 to 1 in 5000 people. […] The incidence of individuals who are homozygous for abnormal pseudocholinesterase enzyme variants is approximately 1 in 2000 to 1 in 5000. Heterozygosity for an abnormal variant occurs in approximately 1 in 500 individuals. The male-to-female ratio for atypical pseudocholinesterase enzyme expression is approximately 2:1. Populations reported to have higher prevalence of pseudocholinesterase deficiency include males of Northern European ancestry, individuals of Persian Jewish descent, and some Alaska Native groups.

• #10 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

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

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

• #11 Orphanet: Hereditary butyrylcholinesterase deficiency

  https://www.orpha.net/en/disease/detail/132

  The prevalence of BChE deficiency is highest in the Caucasian population with between 3.4 and 4% of the population displaying a partial enzyme deficiency leading to slightly prolonged apnoea (between 5 minutes and 1 hour) and 1 in 2500 individuals showing a prolongation of more than 1 hour. […] The prevalence of this severe form is estimated at 1 in 100 000 individuals.

• #12 Orphanet: Hereditary butyrylcholinesterase deficiency

  https://www.orpha.net/en/disease/detail/132

  The prevalence of BChE deficiency is highest in the Caucasian population with between 3.4 and 4% of the population displaying a partial enzyme deficiency leading to slightly prolonged apnoea (between 5 minutes and 1 hour) and 1 in 2500 individuals showing a prolongation of more than 1 hour. […] The prevalence of this severe form is estimated at 1 in 100 000 individuals.

• #13 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

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

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

• #14

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  This issue describes an interesting case of an unusual presentation of pseudocholinesterase (PChE) deficiency in a parturient undergoing emergent cesarean section by Upadaya and Garg. […] PChE or butyrylcholinesterase deficiency is a rare, acquired, or inherited condition where the PChE levels are absent or lower than normal with a reduced ability to metabolize succinylcholine and mivacurium leading to prolonged muscular paralysis from standard doses. […] The incidence of homozygotes for abnormal PChE enzyme is approximately 1 per 2000 to 5000 people. Whereas, the incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. The male-to-female incidence is 2:1 and it is more prevalent in Caucasian males of European descent, the Persian Jewish community, and Alaskan natives.

• #15 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  Pseudocholinesterase enzyme deficiency is a condition that affects roughly 1 out of every 2000 to 5000 people who have two copies of the abnormal gene (homozygotes). […] For those with one abnormal gene copy (heterozygotes), the rate of incidence is about 1 out of every 500 people. […] Interestingly, this condition affects males twice as much as females. […] Certain groups have a higher likelihood of having pseudocholinesterase deficiency, including males of European descent, Persian people from the Jewish community, and some Alaska Natives.

• #16 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

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

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

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

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

  The incidence of patients that present as homozygotes for abnormal pseudocholinesterase enzyme is approximately 1 per 2000 to 5000 people. […] The incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. […] Male to female incidence for atypical pseudocholinesterase enzyme occurs in 2 to 1 ratio. […] Populations with the highest prevalence of pseudocholinesterase deficiency include Caucasian males of European descent, Persian people of the Jewish community, and a subset of Alaska Natives.

• #18

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  This issue describes an interesting case of an unusual presentation of pseudocholinesterase (PChE) deficiency in a parturient undergoing emergent cesarean section by Upadaya and Garg. […] PChE or butyrylcholinesterase deficiency is a rare, acquired, or inherited condition where the PChE levels are absent or lower than normal with a reduced ability to metabolize succinylcholine and mivacurium leading to prolonged muscular paralysis from standard doses. […] The incidence of homozygotes for abnormal PChE enzyme is approximately 1 per 2000 to 5000 people. Whereas, the incidence of heterozygotes for the abnormal enzyme is approximately 1 per 500. The male-to-female incidence is 2:1 and it is more prevalent in Caucasian males of European descent, the Persian Jewish community, and Alaskan natives.

• #19 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

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

  Pseudocholinesterase deficiency can be inherited as an autosomal recessive trait, occurring in approximately 1 in 3200 to 1 in 5000 people. […] The incidence of individuals who are homozygous for abnormal pseudocholinesterase enzyme variants is approximately 1 in 2000 to 1 in 5000. Heterozygosity for an abnormal variant occurs in approximately 1 in 500 individuals. The male-to-female ratio for atypical pseudocholinesterase enzyme expression is approximately 2:1. Populations reported to have higher prevalence of pseudocholinesterase deficiency include males of Northern European ancestry, individuals of Persian Jewish descent, and some Alaska Native groups.

• #20 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body’s production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. […] Because it is rare in the general population, pseudocholinesterase deficiency is sometimes overlooked when a patient does not wake up after surgery. […] For homozygosity, the incidence is approximately 1:2,000-4,000, whereas the incidence for heterozygosity increases to up to 1:500. […] Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency amongst the Arya Vysya community. […] Pseudocholinesterase deficiency is common within the Persian and Iraqi Jewish populations. Approximately one in 10 Persian Jews are known to have a mutation in the gene causing this disorder and thus one in 100 couples will both carry the mutant gene and each of their children will have a 25% chance of having two mutant genes, and thus be affected with this disorder.

• #21

  https://www.omim.org/entry/617936

  A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. […] BCHE deficiency shows autosomal recessive inheritance (Delacour et al., 2014). […] Using a rapid screening test, Motulsky and Morrow (1968) demonstrated a low frequency of BCHE heterozygotes among Congolese Africans, Japanese, Taiwanese, Filipinos and Eskimos. U.S. Caucasians, Greeks, Yugoslavs and East Indians had a relatively high frequency (2.8 to 3.3%). They predicted a low frequency of suxamethonium apnea in the low frequency groups. […] Deficiency of pseudocholinesterase is unusually frequent among Alaskan Eskimos (Gutsche et al., 1967). In an Eskimo population with a gene frequency for serum cholinesterase deficiency exceeding 10%, Scott et al. (1970) determined normal enzyme levels at various ages and the degree of overlap of heterozygous and homozygous classes. Curiously, 3 presumably allelic forms of serum cholinesterase deficiency were found in 1 small Eskimo population (Scott and Wright, 1976).

• #22

  https://www.omim.org/entry/617936

  A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. […] BCHE deficiency shows autosomal recessive inheritance (Delacour et al., 2014). […] Using a rapid screening test, Motulsky and Morrow (1968) demonstrated a low frequency of BCHE heterozygotes among Congolese Africans, Japanese, Taiwanese, Filipinos and Eskimos. U.S. Caucasians, Greeks, Yugoslavs and East Indians had a relatively high frequency (2.8 to 3.3%). They predicted a low frequency of suxamethonium apnea in the low frequency groups. […] Deficiency of pseudocholinesterase is unusually frequent among Alaskan Eskimos (Gutsche et al., 1967). In an Eskimo population with a gene frequency for serum cholinesterase deficiency exceeding 10%, Scott et al. (1970) determined normal enzyme levels at various ages and the degree of overlap of heterozygous and homozygous classes. Curiously, 3 presumably allelic forms of serum cholinesterase deficiency were found in 1 small Eskimo population (Scott and Wright, 1976).

• #23 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body’s production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. […] Because it is rare in the general population, pseudocholinesterase deficiency is sometimes overlooked when a patient does not wake up after surgery. […] For homozygosity, the incidence is approximately 1:2,000-4,000, whereas the incidence for heterozygosity increases to up to 1:500. […] Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency amongst the Arya Vysya community. […] Pseudocholinesterase deficiency is common within the Persian and Iraqi Jewish populations. Approximately one in 10 Persian Jews are known to have a mutation in the gene causing this disorder and thus one in 100 couples will both carry the mutant gene and each of their children will have a 25% chance of having two mutant genes, and thus be affected with this disorder.

• #24

  https://www.omim.org/entry/617936

  Manoharan et al. (2006) tested 226 plasma samples from a Vysya community in India and found that 9 unrelated individuals had no detectable BCHE activity. DNA sequencing revealed that all silent BCHE samples were homozygous for a missense mutation in the BCHE gene (L335P; 177400.0014). The authors calculated that the frequency of homozygous silent BCHE in the Vysya community was 1 in 24 (4%), a value 4,000-fold higher than that observed in European and American populations, and noted that the Vysyas constitute about 16% of the population of India.

• #25

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  In the Indian population, the Arya Vysya community belonging to Coimbatore, Tamil Nadu, state of India, is the most affected with a homozygous mutation incidence rate of 2%4%. […] Acquired PChE deficiency can occur in malnutrition, pregnancy, postpartum period, liver disease, kidney disease, myocardial infarction, congestive heart failure, malignancy, chronic infections, hemodialysis, and burns. […] PChE deficiency is not detected until the patient has prolonged neuromuscular blockade following exposure to succinylcholine or mivacurium. […] A search of literature reveals that most case reports of PChE deficiency involved unexpected prolonged paralysis after surgery. […] The patients underwent a prolonged hospital stay with a delayed extubation and unanticipated, unnecessary intensive care unit stay, thus emphasizing the need for revisiting PChE deficiency and creating awareness for timely detection and management.

• #26 Pseudocholinesterase Deficiency in an Indian Community | Journal of Pharmacy Practice and Community Medicine

  https://jppcm.org/archives/article/60.html

  Pseudocholinesterase deficiency is a genetic enzyme abnormality or acquired alteration in the metabolism of choline esters in this patient may experience a paralysis of the respiratory muscles, to overcome this, required more time mechanically-assisted breathing. […] Arya Vysya community people of India having deficiency of pseudocholinesterase is the most affected people than any other with homozygous mutation incidence rate of 2-4%. […] Very recent studies in 2016 reveal that malnutrition-induced pseudocholinesterase deficiency is also a possible etiology. […] It was suggested that the Arya Vysya Community people with a history of pseudocholinesterase deficiency should tell his or her doctor if when they undergo anesthesia for surgery to avoid potentially serious unwanted adverse effects.

• #27

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  In the Indian population, the Arya Vysya community belonging to Coimbatore, Tamil Nadu, state of India, is the most affected with a homozygous mutation incidence rate of 2%4%. […] Acquired PChE deficiency can occur in malnutrition, pregnancy, postpartum period, liver disease, kidney disease, myocardial infarction, congestive heart failure, malignancy, chronic infections, hemodialysis, and burns. […] PChE deficiency is not detected until the patient has prolonged neuromuscular blockade following exposure to succinylcholine or mivacurium. […] A search of literature reveals that most case reports of PChE deficiency involved unexpected prolonged paralysis after surgery. […] The patients underwent a prolonged hospital stay with a delayed extubation and unanticipated, unnecessary intensive care unit stay, thus emphasizing the need for revisiting PChE deficiency and creating awareness for timely detection and management.

• #28 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #29 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] 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.

• #30 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

  Pseudocholinesterase deficiency is an important, albeit rare, differential diagnosis of delayed emergence from general anesthesia. […] Hereditary pseudocholinesterase deficiency is an autosomal recessive condition with an estimated prevalence of 1:3000 for homozygotes and 1:25 for heterozygotes. […] Diagnostic tests for pseudocholinesterase deficiency are not part of a routine preoperative work-up, and patients are typically asymptomatic in their daily lives. […] 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.

• #31 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] 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.

• #32 Cholinesterase, Plasma | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/335/cholinesterase-plasma?p=r&cc=MASTER

  Cholinesterase, Plasma – Approximately 1 in every 2500 individuals has inherited defective or deficiency of the enzyme (pseudocholinesterase) that metabolizes succinylcholine (an anesthetic agent). With „normal” dosage, these individuals have prolonged apnea. Such individuals are responsive at much smaller concentrations of this anesthetic agent than the general population. Low concentrations of pseudocholinesterase are observed in individuals exposed to organophosphorous insecticides and patients with hepatic dysfunction. […] This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

• #33 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

  Pseudocholinesterase deficiency is an important, albeit rare, differential diagnosis of delayed emergence from general anesthesia. […] Hereditary pseudocholinesterase deficiency is an autosomal recessive condition with an estimated prevalence of 1:3000 for homozygotes and 1:25 for heterozygotes. […] Diagnostic tests for pseudocholinesterase deficiency are not part of a routine preoperative work-up, and patients are typically asymptomatic in their daily lives. […] 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.

• #34 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

  Pseudocholinesterase deficiency is an important, albeit rare, differential diagnosis of delayed emergence from general anesthesia. […] Hereditary pseudocholinesterase deficiency is an autosomal recessive condition with an estimated prevalence of 1:3000 for homozygotes and 1:25 for heterozygotes. […] Diagnostic tests for pseudocholinesterase deficiency are not part of a routine preoperative work-up, and patients are typically asymptomatic in their daily lives. […] 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.

• #35 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body’s production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. […] Because it is rare in the general population, pseudocholinesterase deficiency is sometimes overlooked when a patient does not wake up after surgery. […] For homozygosity, the incidence is approximately 1:2,000-4,000, whereas the incidence for heterozygosity increases to up to 1:500. […] Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency amongst the Arya Vysya community. […] Pseudocholinesterase deficiency is common within the Persian and Iraqi Jewish populations. Approximately one in 10 Persian Jews are known to have a mutation in the gene causing this disorder and thus one in 100 couples will both carry the mutant gene and each of their children will have a 25% chance of having two mutant genes, and thus be affected with this disorder.

• #36 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #37 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 inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Incidence of disease differs among genotypes. The incidence among homozygotes is 1 per 2000-5000 persons and is 1 per 500 among heterozygotes; within this incidence, men have a 2:1 prevalence when compared to women. […] Pseudocholinesterase deficiency is usually diagnosed retrospectively after a patient has received general anesthesia with succinylcholine or mivacurium used for endotracheal intubation. […] 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.

• #38 Pseudocholinesterase Deficiency: Symptoms & Treatment

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

  Pseudocholinesterase deficiency is uncommon. It affects about 1 out of every 3,200 to 5,000 people in the general population. […] You cant prevent inherited pseudocholinesterase deficiency. But if it runs in your family, you can get tested for the BCHE gene mutation before undergoing general anesthesia. This can help you avoid surgical complications. […] If you have a pseudocholinesterase deficiency diagnosis, you should avoid certain anesthetic medications, including: Succinylcholine, Mivacurium, Procaine, Chloroprocaine, Benzocaine, Tetracaine.

• #39 How to Monitor Succinylcholine-Induced Neuromuscular Blockade

  https://www.blinkdc.com/blog/how-to-monitor-succinylcholine-induced-neuromuscular-block

  Neuromuscular monitors, like TwitchView should be used to confirm patient recovery from succinylcholine before administering non-depolarizing drugs to rule out the presence of a pseudocholinesterase deficiency and to confirm recovery before extubation. If an undiagnosed deficiency occurs, the ASA guidelines recommend quantitative monitoring to guide extubation timing. Using neuromuscular monitoring in patients suspected of having a pseudocholinesterase deficiency is linked to fewer respiratory complications and reduced incidence of awareness.

• #40 How to Monitor Succinylcholine-Induced Neuromuscular Blockade

  https://www.blinkdc.com/blog/how-to-monitor-succinylcholine-induced-neuromuscular-block

  Neuromuscular monitors, like TwitchView should be used to confirm patient recovery from succinylcholine before administering non-depolarizing drugs to rule out the presence of a pseudocholinesterase deficiency and to confirm recovery before extubation. If an undiagnosed deficiency occurs, the ASA guidelines recommend quantitative monitoring to guide extubation timing. Using neuromuscular monitoring in patients suspected of having a pseudocholinesterase deficiency is linked to fewer respiratory complications and reduced incidence of awareness.

• #41 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

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

  Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives. […] Pseudocholinesterase deficiency can also have nongenetic causes. In these cases, the condition is called acquired pseudocholinesterase deficiency; it is not inherited and cannot be passed to the next generation.

• #42 Pseudocholinesterase Deficiency – OpenAnesthesia

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

  Pseudocholinesterase deficiency is inherited in an autosomal recessive manner. […] Mutations are more common in certain populations. […] There is a male-to-female ratio of 2:1. […] Deficiency of PChE can be inherited (as an autosomal recessive trait), acquired, or iatrogenic. […] Acquired deficiency can be due to: Advanced age, Pregnancy, Kidney disease, Malnutrition, Liver disease, Cancer, Collagen vascular disease, Burns, Hypothyroidism. […] The differential diagnosis of PChE deficiency is broad and includes: Narcotic overdose, Myasthenia gravis, Myasthenia crisis, Hypermagnesemia, Hypophosphatemia, Hypokalemia, Hypothermia can cause prolonged blockade. […] There are no current treatments in the United States for PChE deficiency.

• #43

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  In the Indian population, the Arya Vysya community belonging to Coimbatore, Tamil Nadu, state of India, is the most affected with a homozygous mutation incidence rate of 2%4%. […] Acquired PChE deficiency can occur in malnutrition, pregnancy, postpartum period, liver disease, kidney disease, myocardial infarction, congestive heart failure, malignancy, chronic infections, hemodialysis, and burns. […] PChE deficiency is not detected until the patient has prolonged neuromuscular blockade following exposure to succinylcholine or mivacurium. […] A search of literature reveals that most case reports of PChE deficiency involved unexpected prolonged paralysis after surgery. […] The patients underwent a prolonged hospital stay with a delayed extubation and unanticipated, unnecessary intensive care unit stay, thus emphasizing the need for revisiting PChE deficiency and creating awareness for timely detection and management.

• #44

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  Prevention is the best cure and this old adage could not be truer for a patient with PChE deficiency. […] Diagnosis of PChE deficiency is by exclusion. […] Confirmation for PChE deficiency can be performed by the following techniques: […] Patients diagnosed with PChE deficiency are expected to make a full recovery after administration of succinylcholine or mivacurium provided adequate mechanical ventilation and vigilant monitoring is provided to ensure the spontaneous return of motor function. […] With the significantly large number of factors for PChE deficiency, one wonders whether a better solution would be to avoid the use of succinylcholine all together? […] It is, therefore, prudent that a detailed preoperative evaluation for any suggestive history or acquired causes of PChE deficiency should be done.

• #45 A Case of Pseudocholinesterase Deficiency in Patient Underwent General Anesthesia with Flexible Bronchoscopy, International Journal of Anesthesia and Clinical Medicine, Science Publishing Group

  https://www.sciencepublishinggroup.com/article/10.11648/j.ijacm.20231102.13

  Pseudocholinesterase deficiency is a rare clinical condition primarily associated with genetic alterations, but it can also be caused by certain diseases and medication factors. […] Patients with this condition experience significantly prolonged muscle paralysis when succinylcholine or mivacurium is used during general anesthesia, due to the decreased enzyme levels. […] The diagnosis of pseudocholinesterase deficiency is typically made after the administration of succinylcholine or mivacurium. […] Inquiring about the patient’s family history is also crucial for proper diagnosis and intervention. […] This article presents a case of delayed recovery in a patient with pseudocholinesterase deficiency following painless flexible bronchoscopy. […] It also summarizes the causes, clinical manifestations, diagnosis, and treatment of pseudocholinesterase deficiency-related delayed emergence. […] Furthermore, since pseudocholinesterase deficiency is relatively rare, further research is needed to confirm the effectiveness of the preventive and therapeutic measures mentioned in this article.

• #46

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  Prevention is the best cure and this old adage could not be truer for a patient with PChE deficiency. […] Diagnosis of PChE deficiency is by exclusion. […] Confirmation for PChE deficiency can be performed by the following techniques: […] Patients diagnosed with PChE deficiency are expected to make a full recovery after administration of succinylcholine or mivacurium provided adequate mechanical ventilation and vigilant monitoring is provided to ensure the spontaneous return of motor function. […] With the significantly large number of factors for PChE deficiency, one wonders whether a better solution would be to avoid the use of succinylcholine all together? […] It is, therefore, prudent that a detailed preoperative evaluation for any suggestive history or acquired causes of PChE deficiency should be done.

• #47 How to Monitor Succinylcholine-Induced Neuromuscular Blockade

  https://www.blinkdc.com/blog/how-to-monitor-succinylcholine-induced-neuromuscular-block

  Pseudocholinesterase (butyrylcholinesterase) deficiency is an inherited or acquired condition marked by reduced production of the pseudocholinesterase enzyme in the liver. Patients with this deficiency metabolize succinylcholine and mivacurium poorly, leading to prolonged muscle paralysis after standard doses and an increased risk of awareness. The inherited form has two variants: heterozygous, affecting 1 in 500 individuals, and homozygous, affecting 1 in 3,200. Acquired deficiency can arise from conditions like malnutrition, liver disease, cardiac disease, renal disease, cancer, extensive burns, serious infections, pregnancy, or from certain drugs, including steroids, that reduce enzyme production. Clinical manifestations vary widely, with some patients recovering in minutes and others taking several hours. In 1978, Orpollo measured serum cholinesterase levels in 2,215 surgical patients, finding that 5.35% had abnormally low levels. Pseudocholinesterase deficiency may be underappreciated, as it is significantly more common than malignant hypothermia.

• #48

  https://arsiv.dusunenadamdergisi.org/ing/fArticledetails4370.html?MkID=1286

  Pseudocholinesterase (PCE) deficiency is an inherited condition in which recovery from anesthetic agents like succinylcholine and mivacurium is slow and complicated by prolonged paralysis of respiratory muscles in susceptible patients. […] Since the measurement of PCE levels of all patients eligible for ECT is part of our pre-ECT assessment procedure, we could detect the deficiency before the ECT procedure. […] We suggest further investigation of this topic because screening for PCE levels in pre-ECT assessment may reduce complications of modified ECT with anesthesia. […] The deficiency can be acquired or genetic. […] We did not detect any acquired cause for the PCE deficiency in our case, so we can conclude that it was a genetic variant of PCE deficiency. […] Therefore, we can also expect the incidence of acquired cases of PCE deficiency to be increased in these patients compared to the general population. Thus we suggest the detection of PCE levels to be a part of routine pre-ECT laboratory assessments.

• #49 What Is Pseudocholinesterase Deficiency?

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

  Pseudocholinesterase deficiency is a rare genetic or acquired disorder that occurs in approximately one in 3,200 to one in 5,000 people. It more commonly prevails in certain Persian Jews and Alaska Natives communities. […] 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. […] Pseudocholinesterase deficiency is a genetic or inherited condition characterized by prolonged periods of apnea and paralysis following clinical doses of Succinylcholine or Mivacurium. The metabolism of Succinylcholine, Mivacurium, and ester local anesthetics is potentially impaired in these patients.

• #50

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  Prevention is the best cure and this old adage could not be truer for a patient with PChE deficiency. […] Diagnosis of PChE deficiency is by exclusion. […] Confirmation for PChE deficiency can be performed by the following techniques: […] Patients diagnosed with PChE deficiency are expected to make a full recovery after administration of succinylcholine or mivacurium provided adequate mechanical ventilation and vigilant monitoring is provided to ensure the spontaneous return of motor function. […] With the significantly large number of factors for PChE deficiency, one wonders whether a better solution would be to avoid the use of succinylcholine all together? […] It is, therefore, prudent that a detailed preoperative evaluation for any suggestive history or acquired causes of PChE deficiency should be done.

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