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Primary hyperhidrosis: From a genetics point of view.

ABSTRACT: Primary hyperhidrosis is a disorder of profuse sweating which negatively influences a patient's quality of life and is caused because of over-activation of the sympathetic nervous system. It was believed that hyperhidrosis is a condition limited to only anxious individuals; however, this hypothesis is discredited now. It has been found that people with a positive family history of primary hyperhidrosis are likely to suffer from this condition, suggesting a strong genetic basis. Genetic analysis has revealed a dominant autosomal pattern of inheritance with a variable degree of penetrance and is a sex-independent trait. It is a heterogeneous condition both genetically and clinically as different studies revealed variable genetics and clinical factors. There are no proper criteria for diagnosis as it is not treated as disease by most affected persons. Various studies revealed opposing results in localizing disease gene loci, so further genetic research is needed to pinpoint genes responsible for causing this debilitating condition. Gene expression profiling of human anxiety-causing genes in hyperhidrotic sufferers will also help to devise new treatment modalities. This review highlights the current genetic studies on hyperhidrosis, which may prove to be helpful in understanding the molecular mechanism governing hyperhidrosis.

SUBMITTER: Parveen A

PROVIDER: S-EPMC10866286 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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Primary hyperhidrosis: From a genetics point of view.

Parveen Asia A Abbas Sidra S Mehmood Nasir N Patafi Mahtab Ahmed Mukhtar MAM Wajid Usman U Luqman Muhammad M Arshad Shafia S

Journal of family medicine and primary care 20231221 12

Primary hyperhidrosis is a disorder of profuse sweating which negatively influences a patient's quality of life and is caused because of over-activation of the sympathetic nervous system. It was believed that hyperhidrosis is a condition limited to only anxious individuals; however, this hypothesis is discredited now. It has been found that people with a positive family history of primary hyperhidrosis are likely to suffer from this condition, suggesting a strong genetic basis. Genetic analysis ...[more]

PMID: 38361865

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Project description:BackgroundCompensatory hyperhidrosis is the main cause of patients' dissatisfaction following sympathectomy for primary hyperhidrosis. Therefore, thoracoscopic sympathetic nerve block before sympathectomy can be used to predict compensatory hyperhidrosis after sympathectomy. The objective of this study is to review our recent experience with the nerve block procedure, describing efficacy, safety and validity.MethodsWe retrospectively reviewed the medical records of 107 patients who underwent thoracoscopic sympathetic nerve block with a local anesthetic for primary palmar and craniofacial hyperhidrosis using a 2-mm needlescope from March 2017 to November 2019. A week later, the patients were interviewed, and a decision made as to whether to proceed with sympathectomy. We analyzed the perioperative data of patients who underwent the predictive procedure either followed, or not followed, by sympathectomy.ResultsPrimary hyperhidrosis was relieved in all patients by the predictive procedure without severe complications. Compensatory hyperhidrosis happened to 32 patients (29.9%). Seventy-eight patients (72.9%) decided to undergo sympathectomy (group A) and 29 patients (27.1%) refused the sympathectomy (group B). Group B tended to have higher average body mass index (24.5 versus 23.2 kg/m2, P=0.082) and compensatory hyperhidrosis rate after predictive procedure (37.9% versus 26.9%, P=0.269) compared to group A. The compensatory hyperhidrosis rate after sympathectomy in group A was 76.9%. The effective duration of sympathetic block was significantly longer in group A than in group B (33.5 versus 13.9 hours, P=0.001). The predictive procedure had 94.4% specificity and 33.3% sensitivity for prediction of compensatory hyperhidrosis.ConclusionsThoracoscopic sympathetic block may be safe and feasible as a procedure for predicting compensatory hyperhidrosis after sympathectomy, and beneficially, it allows the patients to experience the effect of sympathectomy on primary hyperhidrosis and occurrence of compensatory hyperhidrosis. However, a longer effective duration of sympathetic block is needed to help patients to decide whether to proceed with the surgery.

Project description:BackgroundAlthough sympathectomy is highly effective for improving symptom, compensatory hyperhidrosis (CH) is a major issue. In this study, characteristics of primary hyperhidrosis were investigated in terms of the heart rate variability (HRV) parameters. Classification of hyperhidrosis type and prediction of CH after sympathicotomy were also determined using machine learning analysis.MethodsFrom March 2017 to December 2021, 128 subjects who underwent HRV tests before sympathicotomy were analyzed. T2 and T3 bilateral endoscopic sympathicotomy were routinely performed in patients with craniofacial and palmar hyperhidrosis, respectively. Data collected age, sex, body mass index (BMI), hyperhidrosis type, symptom improvement after sympathicotomy, the degrees of CH after sympathicotomy, and preoperative HRV findings. The independent risk factors associated with the degree of CH after sympathicotomy were investigated. Machine learning analysis was used to determine classification of hyperhidrosis type and prediction of the degree of CH.ResultsPreoperatively, patients with palmar hyperhidrosis presented with significantly larger standard deviation of normal-to-normal (SDNN), root mean square of successive differences (RMSSD), total power (TP), and low frequency (LF) than patients with craniofacial hyperhidrosis after controlling for age and sex (P=0.030, P=0.004, P=0.041, and P=0.022, respectively). More sympathetic nervous predominance was found in craniofacial type (P=0.019). Low degree of CH had significantly greater RMSSD (P=0.047), and high degree of CH showed more sympathetic nervous predominance (P=0.006). Multivariate analysis showed the type and expansion of sympathicotomy were significant factors for CH (P=0.001 and P=0.028, respectively). The neural network (NN) algorithm outperformed and showed a 0.961 accuracy, 0.961 F1 score, 0.961 precision, 0.961 recall, and 0.972 area under the curve (AUC) for classification of hyperhidrosis type. The random forest (RF) model outperformed showed a 0.852 accuracy, 0.853 F1 score, 0.856 precision, 0.852 recall, and 0.914 AUC for prediction of the degree of CH.ConclusionsThe present study showed the machine learning algorithm can classify types and predict CH after sympathicotomy for primary hyperhidrosis with considerable accuracy. Further large-scale studies are needed to validate the findings and provide management guidelines for primary hyperhidrosis.

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Primary hyperhidrosis: From a genetics point of view.

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Primary hyperhidrosis: From a genetics point of view.

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