Pseudocholinesterase Deficiency Research Articles

General anaesthesia for laparoscopic umbilical hernia repair in a patient with pseudocholinesterase deficiency: a case report

Pseudocholinesterase deficiency is a condition that causes prolonged muscle weakness when succinylcholine or mivacurium is used as a neuromuscular blocking agent. It can be either inherited or acquired. The practice of not using these two muscle relaxant agents may suggest that PED is not a significant problem for general anesthesia. This case report describes the successful discharge of a patient with a preexisting diagnosis of PED who underwent laparoscopic umbilical hernia repair under GA with neuromuscular monitoring without complications.

Sacral neuromodulation in a patient with pseudocholin-esterase deficiency

Sacral neuromodulation in a patient with pseudocholin-esterase deficiency

A Case of Pseudocholinesterase Deficiency in Patient Underwent General Anesthesia with Flexible Bronchoscopy

A Case of Pseudocholinesterase Deficiency in Patient Underwent General Anesthesia with Flexible Bronchoscopy

Revisiting Pseudocholinesterase Deficiency

Revisiting Pseudocholinesterase Deficiency

A prolonged paralysis with succinylcholine in pseudocholinesterase deficiency: an undesired effect.

A prolonged paralysis with succinylcholine in pseudocholinesterase deficiency: an undesired effect.

Prolonged Apnoea after Suxamethonium, Diagnosis & Treatment: A Case Report

Plasma Cholinesterase Deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the Body’s production of butyrylcholinesterase is impaired resulting in prolonged apnoea following depolarising muscle relaxants like Succinyl Choline (Suxamethonium) or Mivacurium. This is associated with paralysis & little or no neurological response. Individuals with plasma cholinesterase (Pseudocholinesterase) deficiency are often diagnosed only after experiencing prolonged apnoea after standard intubating dose of Succinyl Choline. Plasma Cholinesterase is not produced artificially & can be supplied through Blood & fresh frozen plasma. Hence treatment includes mechanical ventilation & supplementation of either whole blood or fresh frozen plasma.

Pseudocholinesterase Deficiency and Patient Perspectives

Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. Pseudocholinesterase is a plasma enzyme that is responsible for the breakdown of succinylcholine and mivacurium, which are commonly used paralytic agents. People with this condition are usually unaware they have the disease, and the disease may not manifest until extubation at the end of surgery.

Prevalence of human pseudocholinesterase (butyrylcholinesterase) deficiency in central Anatolian people: A cross-sectional study

Amac: Human psodokolinesteraz (PChE), suksinilkolin ve mivakuryum gibi kas gevseticilerin yikimindan sorumlu bir enzimdir. PChE eksikligi genetik kokenle veya edinilmis sebeplerle ortaya cikabilir ve bu durum uzamis apneye yol acabilir. Biz calismamizda, orta Anadolu bolgesinde Human psodokolinesteraz (PChE) enzim eksikliginin sikligini arastirmayi ve literatur isiginda sunmayi amacladik. Yontemler: Bu enine-kesitsel calismada, Agustos 2015 ve Eylul 2019 arasinda genel anestezi altinda herhangi bir elektif cerrahi geciren 18-70 yas arasindaki toplam 936 hasta calismaya dahil edildi. Hastalarin kan orneginde human PChE duzeyi, plazma PChE aktivitesi, human PChE aktivitesi / serum albumin duzeyi, serum karaciger ve bobrek fonksiyon testleri analiz edildi. Human PChE enzim eksikligi ve serumda olculen diger degerler ile muhtemel iliskisi de ayrica arastirildi. PChE normal degeri 4650 U/L-10440 U/L olarak kabul edildi. Bulgular: PChE enzim aktivitesi, toplam 936 hastanin (442 erkek, 494 bayan) 19’unda (%1,9) normalin altindaydi. Cinsiyet acisindan PChE duzeyleri arasinda anlamli fark yoktu (P=0,236). Hastalarin 22’sinde (%2,35) PChE aktivitesi 5,000 U/ml’ in altindaydi. 58 (%6,4) hastada ise PChE aktivitesi 6,000 U/L’ in altinda olculdu. Human PChE seviyesi ile serum ure ve kreatinin arasinda istatistiki olarak onemli fark saptandi (sirasiyla, P=0,034, P=0,236). Ancak PChE enzim eksikliginin AST ve ALT gibi karaciger fonksiyon testleri ile iliskisi saptanmadi (sirasiyla, P=0,432, P=0,022). Sonuc: Psodokolinesteraz enzim eksikligi preoperatif hastalarda gozlenebilir ve uzamis apne ve solunum destegi dahil yasami tehdit eden ciddi sonuclara sebep olabilir .

Pseudocholinesterase Deficiency Considerations: A Case Study.

Pseudocholinesterase deficiency, sometimes called butyrylcholinesterase deficiency, is a rare disorder in which the neuromuscular blocking drugs succinylcholine and mivacurium cannot be metabolized properly in the blood plasma. This disorder can either be acquired as a result of certain comorbidities or it can be inherited genetically. Anesthesia providers must understand the pathophysiology of pseudocholinesterase deficiency and be prepared to safely and effectively manage patients who show signs and symptoms consistent with the disorder after the use of the indicated neuromuscular blocking drugs. This article summarizes the pharmacologic and physiologic data relevant to understanding the basic pathophysiology associated with pseudocholinesterase deficiency and illustrates a case study of a young woman suspected of having the disorder after a prolonged delay in emergence from general anesthesia.

Pseudocholinesterase Enzyme Deficiency in Adıyaman City Area.

Pseudocholinesterase (PChE) is an enzyme responsible for the hydrolysis of succinylcholine. In case of its deficiency, the effect of succinylcholine that is approximately 5-10 min is prolonged up to few hours. The use of succinylcholine has been declined recently. However, it is still actively used in some special conditions and in developing countries. In this study, incidence of PChE enzyme deficiency around Adiyaman city was investigated and presented with the literature review. After obtaining an approval from the investigational board of our hospital (Adiyaman University Medical School, Biomedical Research Ethics Board, 30.12.2012, Nr: B.30.2.ADY.0.20.00-600/51), patients undergoing any elective operation under general anaesthesia in the Adiyaman University Medical School Hospital between March and December 2013 were recruited for the study. After obtaining the patients' written consents, blood PChE, alanine aminotransferase (ALT), aspartate aminotransferase (AST), urea, creatinine, international normalisation ratio (INR) and activated partial thromboplastin time (aPTT) values of the patients were analysed. Possible association of the PChE deficiency with other values was also investigated. The normal value of PChE was taken as 4260-11250 for females aged 16-40 years and 5320-12920 U L(-1) for other patients. The study was completed with 964 patients, 702 (72.8%) of whom were females. PChE enzyme levels were under the normal in 7.2% of the patients. There were no correlation between patient group, ALT, INR, aPTT and creatinine elevation with PChE deficiency (p>0.05), whereas AST and urea level elevation was significantly associated with PChE deficiency (p<0.05). The risk of PChE deficiency was 4.5 and 9 times higher in the patients with the elevation of AST and urea levels, respectively. Pathological elevations of AST and urea that are a part of normal pre-operative biochemical analysis of blood will indicate the possible deficiency of PChE enzyme.

Pseudocholinesterase Deficiency in Patient Undergoing Microlaringeal Surgery

Introduction: Pseudocholinesterase deficiency is a genetic or acquired alteration in the metabolism of choline esters such as succinylcholine. Case description: A 70 years old female patient (body weight 48 kg, height 157 cm) was admitted to the hospital for microlaryngeal surgery. The preoperative interrogation revealed no significant personal or family history of adverse reaction to anesthetics. ASA classification is III. We performed a general anesthesia with intubation to the patient. Fentanyl 0.25 mg, propofol 150 mg and succinylcholine 70 mg were administered for anesthesia induction. After intubation 2% sevoflurane was used for anesthesia maintenance. The patient was unresponsive to external stimuli for 40 min since the end of the operation. Tree hours after operation, the patient had totally recovered from paralysis and tracheal tube was removed. Four days after operation the patient was discharged from hospital with no special discomfort. Discussion: Reduced plasma cholinesterase activity may occur as a result of inherited, acquired defects or iatrogenic causes. If the acquired defects are excluded low butyrylcholinesterase enzyme (BChE) activity is usually considered to be caused by mutations in butyrylcholinesterase gene (BCHE). There is no specific treatment for butyrylcholinesterase deficiency and the mainstream is to maintain ventilatory support until succinylcholine is metabolized out of the myoneural junction and neuromuscular function recovers. Transfusion of fresh frozen plasma is also viable. Conclusion: There is no specific treatment for plasma cholinesterase deficiency. The best and safest way is to let the patient recover spontaneously. Mechanical ventilation support is very important.

Cesarean Section in a Parturient with Pseudocholinesterase Deficiency Suspected by Preoperative Interview and Immune Thrombocytopenic Purpura

Cesarean Section in a Parturient with Pseudocholinesterase Deficiency Suspected by Preoperative Interview and Immune Thrombocytopenic Purpura

Severe pseudocholinesterase deficiency and ECT: a case report

Pseudocholinesterase (PCE) deficiency is an inherited condition in which recovery from anesthetic agents like succinylcholine and mivacurium is slow and is complicated with prolonged paralysis of respiratory muscles in susceptible patients. We present a very rare case that we encountered in our practice; the patient is a 29-year-old woman with a 15-year history of schizophrenia with pseudocholinesterase deficiency. Since the detection 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 performed modified ECT with propophol and rocuronium instead of succinylcholine as usual. Sugammadex was used for fastening the recovery. Response to treatment which is measured with Positive and Negative Symptom Scale was good and we completed 9 ECT sessions without complication. We suggest further investigation of this topic because screening for PCE levels in pre-ECT assessment may reduce complications of modified ECT with anesthesia.

Dental local anesthesia for patients with pseudocholinesterase deficiency

Dental local anesthesia for patients with pseudocholinesterase deficiency

Delayed Emergence From Anesthesia: A Simulation Case for Anesthesia Learners.

Delayed emergence is failure to regain consciousness following general anesthesia. It commonly involves altered mental status and respiratory compromise leading to increased morbidity, operating room delays, and increased cost. Causes include residual anesthetics, pharmacologic actions, surgical complications, neurologic events, endocrine disturbances, and patient-related factors. Pseudocholinesterase deficiency is an important consideration in delayed emergence. These patients are unable to effectively metabolize the muscle relaxants succinylcholine and mivacurium, leading to prolonged paralysis following administration. This simulation exercise is designed for medical students, student nurse anesthetists, and resident physicians. It is a 1-hour small-group learning activity centered upon a single patient encounter. We employ this exercise using an anesthesiology resident physician to proctor, a simulation technician to program and run, and a faculty anesthesiologist to mentor each session. It is intended to reinforce required reading assignments and improve the approach to delayed emergence from anesthesia. The debriefing includes discussion of risk-reduction strategies for incorporation in clinical practice. This exercise is easily reproduced using modern simulation mannequins without specialized programming. Learners provided evaluations of their experience participating in the exercise, and resident physicians evaluated their experience proctoring the sessions. Responses were positive, and constructive criticism led to modifications to the exercise after development. We use this exercise as an educational opportunity for medical students rotating clinically in our department. Medical students are paired with resident physicians for scenario development and work with faculty to produce valuable educational activities that benefit the entire department.

Modified electroconvulsive therapy in pseudocholinesterase deficiency: A case report

Introduction.Pseudocholinesterase (PCHE) deficiency is an inherited condition, in which recovery from anesthetic agents like succinylcholine and mivacurium is slow and complicated with prolonged paralysis of respiratory muscles in susceptible patients. Succinylcholine is used very frequently as a muscle relaxant during the procedure.Objectives.In Bakirkoy research and training hospital for psychiatric and neurological diseases, 24.310 patients were hospitalized for acute conditions and 3490 of these patients were treated with electroconvulsive therapy (ECT) in 3 years. We present a very rare case that we encountered in our practice; a severe PCHE deficiency case that could have complicated the modified ECT procedure unless necessary precautions were taken.Aims.Detection of PCHE levels of all patients eligible for ECT is part of our pre-ECT assessments procedure, and the case presented here shows the benefits of this method.Methods.The patient is a 29-year-old woman, with a 15 year history of schizophrenia. She was hospitalized for homicidal risk and refusal of treatment. Inadequate clinical response with pharmacological interventions and continuous aggressive excitations directed us to consider ECT.Results.After the detection of PCHE deficiency (PCHE level: 126 U/L), we performed the modified ECT with propophol and rocuronium instead of succinylcholine as usual. Sugammadex 100 mg was used for fastening the recovery. Response to treatment, which is recorded with positive and negative syndrome scale, was good and we completed 9 ECT sessions without complication.Conclusions.Screening for PCHE levels in the pre-ECT assessments is efficacious in order to decrease the complications of the ECT procedure.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Pseudocholinesterase Deficiency in an Indian Community

Background: India, the seventh largest country, 3rd largest standing army and one of the oldest civilizations in the world, with a literacy rate of 74.04%. Indian population was a mixture of 46,73,034 categories of different castes and sub-caste each related to a specific occupation. Arya Vysya is a Hindu Indian caste with a total population of 22,952,000. Methods: Pseudocholinesterase is a glycoprotein enzyme with complex molecular structure synthesized in the liver and specifically hydrolyzes certain exogenous cholinesters. 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. The presence of the genetic defect is not realized until one is exposed to succinylcholine or mivacurium. Results: 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. Conclusion: 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. Key words: India, Arya Vysya, Pseudocholinestase, Pseudocholinestrase deficiency, Choline esters, Acholest test paper.

Delayed recovery from paralysis associated with plasma cholinesterase deficiency.

IntroductionThis case was to describe a patient presented a 6 h length of apnea associated with low cholinesterase activity.Case descriptionA 32 years old female patient (body weight 50 kg, height 160 cm) was admitted to the hospital for laparoscopy combined with hysteroscopy exploration. The preoperative interrogation revealed no significant personal or family history of adverse reaction to anesthetics. The patient was healthy, with no chronic or systemic disease. ASA classification is I. We performed a general anesthesia with intubation to the patient. Succinylcholine 100 mg was administered in anesthesia induction. After intubation, cisatracurium 3 mg and 3% sevoflurane were used for anesthesia maintenance. The patient had been mostly unresponsive to external stimuli for 10 min since the end of the operation. Six hours after operation, the patient had totally recovered from paralysis and tracheal tube was extubated. The plasma cholinesterase test showed 291 U/L, significantly below normal (4650–10,440 U/L). Three days after operation, the patient was discharged from hospital with no special discomfort.Discussion and evaluationReduced plasma cholinesterase activity may occur as a result of inherited, acquired defects or iatrogenic causes. If the acquired defects are excluded, low BChE activity is usually considered to be caused by mutations in butyrylcholinesterase gene (BCHE). 80% of the patients experiencing prolonged neuromuscular blockade following mivacurium have butyrylcholinesteraseen enzyme (BChE) deficiency of genetic origin. The novel mutation of BChE gene is usually associated with the ethnic of the patients. There is no specific treatment for butyrylcholinesterase deficiency and the mainstream is to maintain ventilatory support until succinlcholine is metabolized out of the myoneural junction and neuromuscular function recovers. Transfusion of fresh frozen plasma is also viable.ConclusionsPlasma cholinesterase deficiency is a genetic or acquired condition. The most obvious feature of this genetic variants is prolonged recovery from paralysis in which administrated with succinylcholine or mivacurium. Once this is suspected, a laboratory test is important. There is no specific treatment for plasma cholinesterase deficiency. The best and safest way is to let the patient recover spontaneously. Mechanical ventilation support is important.

The frequency of incidental findings in expanded carrier screening

To examine the frequency of incidental findings in expanded carrier screening - diseases where carriers may also have clinical health implications (CHI). Expanded carrier screening (ECS) identifies couples at risk for transmitting a genetic condition to their offspring. Patients may be counseled during the informed consent process that carriers of recessive conditions usually do not experience symptoms. Yet, there are several conditions on ECS panels where carriers may have CHI. We analyzed Counsyl laboratory’s experience of over 346,790 expanded carrier screens to calculate this frequency. Individuals were tested for carrier status in up to 108 genes by either targeted genotyping (TG) of up to 417 sites or next-generation sequencing (NGS) of the exons and selected introns of the chosen genes. Carrier frequencies for each condition were calculated as the higher of TG or NGS frequencies. Five autosomal recessive diseases were identified for their association with CHI: Nijmegen breakage syndrome (NBN) for cancer risk; ataxia-telangiectasia (ATM) for breast cancer risk; pseudocholinesterase deficiency (BCHE) for increased risk for prolonged period of breathing paralysis after receiving choline ester drugs; hereditary thymine-uraciluria (DPYD) for risk for toxicity following 5-fluorouracil chemotherapy treatment; and factor XI deficiency (F11) for risk for bleeding problems. Carrier frequencies for each condition were tabulated per ethnic group, weighted by US Census Data 2010, and summated to represent the ethnic distribution in USA. 346,790 patients indicating “routine carrier testing” as the reason for testing were selected from a total population of 430,584 (all indications). From this subset, 308,668 (89%) received TG and 38,122 (11%) received NGS test. The carrier frequencies for each condition were 1/280 (ATM), 1/24 (BCHE), 1/109 (DPYD), 1/150 (F11), and 1/560 (NBN). This summates to an overall frequency of 6.2% for CHI on ECS. BCHE accounted for 67% of the frequency of CHI and is more common in individuals of Ashkenazi Jewish (4.5%) and European descent (4.9%) than those of African (1.0%) or Asian descent (1.2%). 6.2% of individuals (1 in 16) screened for these diseases will have an incidental finding - where carriers identified may experience CHI. Pre-test counseling, informed consent, reporting, and post-test counseling should educate patients and providers regarding this possibility.

Pharmacogenetics and anaesthetic drugs: Implications for perioperative practice.

Pharmacogenetics seeks to elucidate the variations in individual's genetic sequences in order to better understand the differences seen in pharmacokinetics, drug metabolism, and efficacy between patients. This area of research is rapidly accelerating, aided by the use of novel and more economical molecular technologies. A substantial evidence base is being generated with the hopes that in the future it may be used to generate personalised treatment regimens in order to improve patient comfort and safety and reduce incidences of morbidity and mortality. Anaesthetics is an area of particular interest in this field, with previous research leading to better informed practice, specifically with regards to pseudocholinesterase deficiency and malignant hyperthermia. In this review, recent pharmacogenetic data pertaining to anaesthetic drugs will be presented and possible future applications and implications for practice will be discussed.