Materiały źródłowe

• #1 Pseudocholinesterase Deficiency: Symptoms & Treatment

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

  Pseudocholinesterase deficiency is a condition that makes you extremely sensitive to a specific group of anesthetic medications, known as muscle relaxants. […] It happens when your body doesnt produce enough pseudocholinesterase an enzyme that helps metabolize (break down) medications (called choline esters) used during general anesthesia. […] People who inherit the condition have a mutation (change) in their BCHE gene. This gene contains instructions that your body uses to make the pseudocholinesterase enzyme. […] You can also develop pseudocholinesterase deficiency over time. Acquired pseudocholinesterase deficiency causes include a variety of health conditions and medications. […] Health conditions that may result in pseudocholinesterase deficiency include: Malnutrition, Burn injuries, Kidney disease, Liver disease, Hypothyroidism, Cancer, Pregnancy.

• #1

  https://europepmc.org/books/n/statpearls/article-27928/?extid=28846304&src=med

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] Acquired pseudocholinesterase deficiency can also occur in several disease states or with the use of certain drugs. […] Malnutrition, pregnancy and the postpartum period, burns, liver disease, kidney disease, hemodialysis, MI, CHF, malignancy, chronic infections and drugs such as steroids and cytotoxic agents can decrease the production of the pseudocholinesterase enzyme. […] Certain other medications and chemicals, such as organophosphate insecticides, MAO inhibitors, and anticholinesterase drugs can inhibit the activity of the enzyme.

• #1 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

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

  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. […] Activity of the pseudocholinesterase enzyme can be impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.

• #1

  https://homeopathyaajtak.com/diseases/p/pseudocholinesterase-deficiency-144

  To have the condition, you must inherit the affected gene from both of your parents. If you inherit only one affected gene, you won’t have the condition. However, you may process choline esters more slowly than those without an affected gene. With one affected gene, you are a gene mutation carrier and can pass the affected gene to your children. But they wouldn’t develop the condition unless they also inherited an affected gene from the other parent. […] The cause of pseudocholinesterase deficiency or PD is an inherited gene passed down from both of your parents. If you have one faulty gene, you won’t have the condition, but you may have problems with anesthesia drugs. You can pass the faulty gene to your children. But to have pseudocholinesterase deficiency, your child must inherit a faulty gene from both parents.

• #1 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 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. […] Liver Disease – Pseudocholinesterase enzyme is mainly synthesized in the liver. Thereby, when the liver function is affected, it leads to impaired synthesis of the enzyme pseudocholinesterase. Decreased enzyme levels have been shown in many patients affected with liver diseases, such as cirrhosis, end-stage liver disease, hepatitis, and liver abscesses.

• #1 What Is Pseudocholinesterase Deficiency?

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

  There is an association between renal diseases and decreased pseudocholinesterase levels in the literature. […] Malnutrition is also closely related to changes in serum albumin and pseudocholinesterase enzymes. This is more likely attributed to the changes in hepatic synthesis of the proteins and enzymes associated with this disease. […] A considerable decrease in pseudocholinesterase activity is found in the tenth week of pregnancy. The pseudocholinesterase enzyme activity further decreases in the postpartum before coming back to normalcy between ten days and six weeks postpartum. […] Impaired levels of pseudocholinesterase enzyme have been associated with malignant tumors and carcinoma. […] Studies suggest a marked reduction in the enzyme pseudocholinesterase activity in patients suffering from cardiopulmonary bypass. The matter worsens if it is associated with a genetic variant.

• #1 What Is Pseudocholinesterase Deficiency?

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

  Pseudocholinesterase deficiency is found to be seen more commonly associated with individuals suffering from lepromatous leprosy. […] 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. […] There is no known treatment for pseudocholinesterase deficiency. However, there are interventions and precautions that, if taken, can speed up the onset of recovery in an individual exposed to Succinylcholine or Mivacurium. […] Patients with pseudocholinesterase deficiency should avoid drugs like Succinylcholine and Mivacurium to prevent the future occurrence of prolonged paralysis. […] 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.

• #1 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. […] This disease can be inherited or acquired. Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Acquired causes of this deficiency include, but are not limited to: liver failure, renal failure, massive burns, malignancy, hypothermia, hypothyroidism, extremes of age, hypoalbuminemia/malnutrition, pregnancy, and HELLP syndrome. […] Iatrogenic etiologies include organophosphates, cyclophosphamide, diethylstilbestrol, MAO inhibitors, phenelzine, and alkylating agents. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #1 Pseudocholinesterase Deficiency: Symptoms & Treatment

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

  There are also certain medications that could increase your risk for pseudocholinesterase deficiency. These medications include: MAO inhibitors like phenelzine (Nardil), Oral contraceptives (birth control), Echothiophate eye drops, Metoclopramide, Cyclophosphamide, Pyridostigmine. […] 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. […] If you have the gene mutation, your provider will avoid choline esters and choose another type of anesthetic instead. […] You may be able to reduce your risk for acquired pseudocholinesterase deficiency by treating underlying health conditions like malnutrition or chronic kidney disease (CKD). […] If you have a pseudocholinesterase deficiency diagnosis, you should avoid certain anesthetic medications, including: Succinylcholine, Mivacurium, Procaine, Chloroprocaine, Benzocaine, Tetracaine.

• #1 Pseudocholinesterase enzyme deficiency: a case series and review of the literature | Cases Journal | Full Text

  https://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9148

  PChE activity may be affected by different disease states and/or by drug administrations. […] Other acquired causes of decreased activity include renal and liver disease, malignancy, burns, chronic debilitation/malnutrition, myocardial infarction/cardiac failure, collagen diseases, myxedema, and organophosphate poisoning. […] Sertraline has a wide therapeutic index and appears to be safer than the tricyclic antidepressants in overdose. […] The usual clinical antidepressants (fluoxetine, sertraline, and amitriptyline) are inhibitors of the cholinesterases on human serum and erythrocyte membrane. […] We believe this is the first case presentation in that sense. […] We may find out that prolonged blocks can be encountered as a result of PChE enzyme defect when mivacurium is used. This situation can either be from congenital as in one of our patients (Patient 4) or due to various reasons (pregnancy, malnutrition and sertraline use) as in the other three patients.

• #1

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

  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 inherited form is an autosomal recessive genetic condition secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3; 3q26.1-26.20. […] 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. […] The incidence of homozygotes for abnormal PChE enzyme is approximately 1 per 2000 to 5000 people. […] 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.

• #1 Pseudocholinesterase Deficiency – MD Searchlight

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

  Pseudocholinesterase deficiency is a rare condition that can be inherited or acquired. Its a defect in an enzyme produced by the liver called pseudocholinesterase. […] You can get pseudocholinesterase deficiency in two ways: it can either be inherited (passed down from parents to their children) or acquired (developed because of certain conditions or medicines). […] In the case of inherited pseudocholinesterase deficiency, this happens due to changes in a specific gene related to an enzyme found in our body called butyrylcholinesterase. […] On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. […] Pseudocholinesterase enzyme deficiency appears in 1 out of 2000 to 5000 people with two faulty genes (homozygotes).

• #1 Pseudocholinesterase Deficiency – MD Searchlight

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

  The deficiency shows up in approximately 1 out of 500 people with one abnormal gene (heterozygotes). […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium. […] Individuals with certain health conditions like cancer, severe burns, heart attack, heart failure, pregnancy, liver disease, hemodialysis, and chronic infections may develop a secondary form of pseudocholinesterase deficiency. […] Pseudocholinesterase deficiency is treated with respiratory support using a mechanical ventilator and sedation to reduce anxiety. […] For future anesthetic procedures, doctors recommend using safe alternatives to drugs that block nerve signals to muscles, such as atracurium, rocuronium, and vecuronium.

• #1 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. […] The inherited defect is caused by either the presence of an atypical PCE or complete absence of the enzyme. […] The frequency for heterozygosity is low among black people, Japanese and non-Japanese Asians, South Americans, Australian Aboriginal peoples, and Arctic Inuit (in general). […] 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.

• #1

  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%. […] 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.

• #1 Pseudocholinesterase Deficiency: What you need to know for safer anesthesia?

  https://www.linkedin.com/pulse/pseudocholinesterase-deficiency-what-you-need-know-safer-dnzje

  Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). […] If pseudocholinesterase deficiency stays undetected it may lead to prolonged muscular paralysis after clinical anesthesia. […] Other clinical conditions that may impact serum Cholinesterase activity are acute and chronic liver disease, inflammation, malnutrition, and Alzheimers disease. […] Also, exposure to pesticides containing organophosphates or any other deliberate or unintended exposure to organophosphates may affect Cholinesterase in serum. […] Pseudocholinesterase is found predominantly in the liver but also in the pancreas, intestine, heart, and brain, and its present in serum/plasma.

• #1 AnesthesiologyQR: A Quick Reference for medical students learning anesthesiology at University of Toronto

  http://pie.med.utoronto.ca/anesthesiaqr/AnesthesiaQR_content/AnesthesiaQR_Pharmacology_Complications.html

  Pseudocholinesterase deficiency (or succinylcholine apnea) is a condition which can lead to prolonged muscular paralysis following administration of succinylcholine. […] Some patients have a qualitative decrease in pseudocholinesterase; enzyme levels might be normal but enzyme activity is decreased. […] These patients have abnormal genes for pseudocholinesterase. Depending on whether the patient is heterozygous or homozygous for these abnormal alleles, the block can be prolonged from 20-30 minutes up to 4-8 hours, respectively.

• #1 Pseudocholinesterase deficiency // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency can be caused by a gene change (mutation) that is inherited. This condition can also be caused by illness, injury or certain medications. […] Pseudocholinesterase deficiency causes the muscles to stay relaxed for too long after getting succinylcholine. This prevents you from moving or breathing on your own for a few hours longer than expected. How long it takes your body to metabolize the drug depends on how much pseudocholinesterase enzyme you produce and how well it functions. […] Pseudocholinesterase deficiency can be inherited or acquired. […] Inherited pseudocholinesterase deficiency is caused by a change in the butyrylcholinesterase (BCHE) gene. This gene provides the instructions to make the pseudocholinesterase enzyme that’s needed to break down choline esters.

• #1 Delayed recovery from paralysis associated with plasma cholinesterase deficiency | SpringerPlus | Full Text

  https://springerplus.springeropen.com/articles/10.1186/s40064-016-3561-y

  There is no specific treatment for plasma cholinesterase deficiency. […] Once a patient was suspected with plasma cholinesterase deficiency, the following measures could be very important: first of all, mechanical ventilation with sedation is necessary until succinylcholine is completely metabolized; secondly, succinylcholine must be avoided; thirdly, test of plasma cholinesterase level of the patient and his/her family members is need; fourthly, marking the patient as plasma cholinesterase deficiency patient; In the end, reviewing the family history of plasma cholinesterase is important. […] There is no specific treatment for butyrylcholineesterase deficiency and the mainstream is to maintain ventilatory support until succinylcholine is metabolized out of the myoneural junction and neuromuscular function recovers.

• #1 Pseudocholinesterase deficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pseudocholinesterase-deficiency/diagnosis-treatment/drc-20354545

  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. […] To diagnose inherited pseudocholinesterase deficiency, the gene change that causes the disorder is identified using genetic testing. […] If you have pseudocholinesterase deficiency, the health care provider who gives you anesthesia (anesthesiologist) can avoid succinylcholine that may trigger prolonged muscle relaxation. […] There is no cure for pseudocholinesterase deficiency. […] With pseudocholinesterase deficiency, you may also be sensitive to other medications.

• #2 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

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

  Pseudocholinesterase deficiency, either inherited or acquired, results in reduced or absent serum pseudocholinesterase activity, increasing sensitivity to anesthetic agents such as succinylcholine and mivacurium. These agents depend on normal enzyme function for rapid breakdown; deficiency may lead to prolonged neuromuscular blockade during general anesthesia. […] Inherited pseudocholinesterase deficiency is autosomal recessive and due to mutations in the butyrylcholinesterase (BChE) gene on chromosome 3 (3q26.126.2). […] Most cases are due to abnormal alleles that either reduce enzyme levels or produce dysfunctional variants. […] Conditions that may reduce plasma pseudocholinesterase activity include: Physiologic states: Neonates, elderly individuals, pregnancy, and the postpartum period […] Diseases: Liver disease, chronic infection (eg, tuberculosis), malignancy, malnutrition, uremia, burns […] Toxic exposures: Organophosphate pesticide poisoning […] Medications and procedures that lower pseudocholinesterase levels include: Anticholinesterase inhibitors […] Cyclophosphamide

• #2 Genetic Testing – pseudocholinesterase, deficiency …, (Pseudocholinesterase deficiency) – Gen BCHE. – IVAMI

  https://www.ivami.com/en/genetic-testing-human-gene-mutations-diseases-neoplasias-and-pharmacogenetics/3684-genetic-testing-pseudocholinesterase-deficiency-pseudocholinesterase-deficiency-gen-bche

  Pseudocholinesterase deficiency is a condition that results in an increased sensitivity to certain muscle relaxants drugs used in general anesthesia, called choline esters. […] This process is due to mutations in the BCHE gene, located on the long arm of chromosome 3 (3q26.1-q26.2). […] There are more than 50 BChE gene mutations in people with deficient pseudocholinesterase. […] Pseudocholinesterase deficiency may also have non – genetic causes. […] When the disease is due to genetic causes, it inherited with an autosomal recessive pattern, meaning that two copies of the gene in each cell have mutations.

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

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

  Pseudocholinesterase deficiency is a rare genetic disorder. It happens when there’s not enough of the pseudocholinesterase enzyme. This enzyme is key for breaking down certain anesthetics like suxamethonium and mivacurium. The main reasons for this condition are genetic mutations and certain inheritance patterns. […] Genetic changes can cause pseudocholinesterase deficiency. Most often, these changes are in the BCHE gene. This gene tells our bodies how to make the enzyme. If the gene is changed, the enzyme might not work right or there might not be enough of it. […] Pseudocholinesterase deficiency is an autosomal recessive disorder. This means a person needs to get one bad gene copy from each parent to have the condition. If someone gets only one bad gene copy, they might not show symptoms but could have lower enzyme activity.

• #2 Pseudocholinesterase Deficiency: Symptoms & Treatment

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

  Pseudocholinesterase deficiency is a condition that makes you extremely sensitive to a specific group of anesthetic medications, known as muscle relaxants. […] It happens when your body doesnt produce enough pseudocholinesterase an enzyme that helps metabolize (break down) medications (called choline esters) used during general anesthesia. […] People who inherit the condition have a mutation (change) in their BCHE gene. This gene contains instructions that your body uses to make the pseudocholinesterase enzyme. […] You can also develop pseudocholinesterase deficiency over time. Acquired pseudocholinesterase deficiency causes include a variety of health conditions and medications. […] Health conditions that may result in pseudocholinesterase deficiency include: Malnutrition, Burn injuries, Kidney disease, Liver disease, Hypothyroidism, Cancer, Pregnancy.

• #2

  https://europepmc.org/books/n/statpearls/article-27928/?extid=28846304&src=med

  Pseudocholinesterase deficiency can be acquired and/or be inherited. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] Acquired pseudocholinesterase deficiency can also occur in several disease states or with the use of certain drugs. […] Malnutrition, pregnancy and the postpartum period, burns, liver disease, kidney disease, hemodialysis, MI, CHF, malignancy, chronic infections and drugs such as steroids and cytotoxic agents can decrease the production of the pseudocholinesterase enzyme. […] Certain other medications and chemicals, such as organophosphate insecticides, MAO inhibitors, and anticholinesterase drugs can inhibit the activity of the enzyme.

• #2

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

  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 inherited form is an autosomal recessive genetic condition secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3; 3q26.1-26.20. […] 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. […] The incidence of homozygotes for abnormal PChE enzyme is approximately 1 per 2000 to 5000 people. […] 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.

• #2 Mayo Clinic Health Library – Pseudocholinesterase deficiency | Swiss Medical Network

  https://www.swissmedical.net/de/healtcare-library/con-20200770

  Pseudocholinesterase deficiency can be caused by a gene change (mutation) that is inherited. This condition can also be caused by illness, injury or certain medications. […] Pseudocholinesterase deficiency causes the muscles to stay relaxed for too long after getting succinylcholine. This prevents you from moving or breathing on your own for a few hours longer than expected. […] Pseudocholinesterase deficiency can be inherited or acquired. […] Inherited pseudocholinesterase deficiency is caused by a change in the butyrylcholinesterase (BCHE) gene. […] You can develop pseudocholinesterase deficiency as a result of conditions that cause you to make less of the pseudocholinesterase enzyme. These conditions include chronic infections, kidney or liver disease, malnutrition, severe burns, cancer, or pregnancy. Certain medications also can reduce production of the enzyme. Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to your children.

• #2 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. […] This disease can be inherited or acquired. Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Acquired causes of this deficiency include, but are not limited to: liver failure, renal failure, massive burns, malignancy, hypothermia, hypothyroidism, extremes of age, hypoalbuminemia/malnutrition, pregnancy, and HELLP syndrome. […] Iatrogenic etiologies include organophosphates, cyclophosphamide, diethylstilbestrol, MAO inhibitors, phenelzine, and alkylating agents. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #2 Pseudocholinesterase Deficiency: Symptoms & Treatment

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

  There are also certain medications that could increase your risk for pseudocholinesterase deficiency. These medications include: MAO inhibitors like phenelzine (Nardil), Oral contraceptives (birth control), Echothiophate eye drops, Metoclopramide, Cyclophosphamide, Pyridostigmine. […] 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. […] If you have the gene mutation, your provider will avoid choline esters and choose another type of anesthetic instead. […] You may be able to reduce your risk for acquired pseudocholinesterase deficiency by treating underlying health conditions like malnutrition or chronic kidney disease (CKD). […] If you have a pseudocholinesterase deficiency diagnosis, you should avoid certain anesthetic medications, including: Succinylcholine, Mivacurium, Procaine, Chloroprocaine, Benzocaine, Tetracaine.

• #2 Pseudocholinesterase Deficiency – OpenAnesthesia

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

  Pseudocholinesterase deficiency is inherited in an autosomal recessive manner. […] 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. […] Iatrogenic causes are usually pharmaceutical agents that interfere with enzyme activity such as Steroids, Contraceptives, Cytotoxic agents, Anticholinergic drugs, Echothiopate eye drops, Organophosphate insecticides, Monoamine oxidase inhibitors, Anticholinesterase drugs.

• #2 ELITechGroup’s Cholinesterase – an economical option for low-volume testing – ELITechGroup Global

  https://www.elitechgroup.com/cholinesterase-low-volume-testing/

  The primary role of Cholinesterase in Clinical Diagnostics is to detect or monitor an acquired or inherited pseudocholinesterase deficiency. Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). […] If pseudocholinesterase deficiency stays undetected it may lead to prolonged muscular paralysis after clinical anesthesia. […] Other clinical conditions that may impact serum Cholinesterase activity are acute and chronic liver disease, inflammation, malnutrition, and Alzheimers disease. […] Also, exposure to pesticides containing organophosphates or any other deliberate or unintended exposure to organophosphates may affect Cholinesterase in serum. […] Pseudocholinesterase is found predominantly in the liver but also in the pancreas, intestine, heart, and brain, and its present in serum/plasma.

• #2 Pseudocholinesterase Deficiency – MD Searchlight

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

  Pseudocholinesterase deficiency is a rare condition that can be inherited or acquired. Its a defect in an enzyme produced by the liver called pseudocholinesterase. […] You can get pseudocholinesterase deficiency in two ways: it can either be inherited (passed down from parents to their children) or acquired (developed because of certain conditions or medicines). […] In the case of inherited pseudocholinesterase deficiency, this happens due to changes in a specific gene related to an enzyme found in our body called butyrylcholinesterase. […] On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. […] Pseudocholinesterase enzyme deficiency appears in 1 out of 2000 to 5000 people with two faulty genes (homozygotes).

• #2 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.

• #2 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.

• #2 Pseudocholinesterase Deficiency – MD Searchlight

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

  The deficiency shows up in approximately 1 out of 500 people with one abnormal gene (heterozygotes). […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium. […] Individuals with certain health conditions like cancer, severe burns, heart attack, heart failure, pregnancy, liver disease, hemodialysis, and chronic infections may develop a secondary form of pseudocholinesterase deficiency. […] Pseudocholinesterase deficiency is treated with respiratory support using a mechanical ventilator and sedation to reduce anxiety. […] For future anesthetic procedures, doctors recommend using safe alternatives to drugs that block nerve signals to muscles, such as atracurium, rocuronium, and vecuronium.

• #2 What Is Pseudocholinesterase Deficiency?

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

  Pseudocholinesterase deficiency is found to be seen more commonly associated with individuals suffering from lepromatous leprosy. […] 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. […] There is no known treatment for pseudocholinesterase deficiency. However, there are interventions and precautions that, if taken, can speed up the onset of recovery in an individual exposed to Succinylcholine or Mivacurium. […] Patients with pseudocholinesterase deficiency should avoid drugs like Succinylcholine and Mivacurium to prevent the future occurrence of prolonged paralysis. […] 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.

• #2

  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%. […] 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.

• #2

  https://jsurgmed.com/article/view/660358

  Aim: Human pseudocholinesterase (PChE) is an enzyme responsible for hydrolysis of the muscle relaxant drugs like succinylcholine and mivacurium. PChE deficiency, which may lead to prolonged apnea, may occur due to hereditary or acquired causes. […] PChE deficiency can be observed in preoperatively evaluated patients and may cause serious life-threatening conditions, including respiratory failure and prolonged apnea.

• #3 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. […] This disease can be inherited or acquired. Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Acquired causes of this deficiency include, but are not limited to: liver failure, renal failure, massive burns, malignancy, hypothermia, hypothyroidism, extremes of age, hypoalbuminemia/malnutrition, pregnancy, and HELLP syndrome. […] Iatrogenic etiologies include organophosphates, cyclophosphamide, diethylstilbestrol, MAO inhibitors, phenelzine, and alkylating agents. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #3 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. […] The inherited defect is caused by either the presence of an atypical PCE or complete absence of the enzyme. […] The frequency for heterozygosity is low among black people, Japanese and non-Japanese Asians, South Americans, Australian Aboriginal peoples, and Arctic Inuit (in general). […] 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.

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