Lymphedema Patients Research Articles

The Impact of Lymphedema on Patient-Reported Outcomes After Breast Reconstruction: A Preliminary Propensity Score-Matched Analysis.

Studies on the impact of secondary lymphedema on patient-reported satisfaction and quality of life following postmastectomy breast reconstruction are limited by their heterogeneity. We aimed to reduce heterogeneity in study sample populations and compare BREAST-Q Reconstruction Module scores of patients with lymphedema matched to patients without lymphedema. We identified patients who underwent postmastectomy breast reconstruction from 2009 to 2017 and performed a propensity score-matched analysis to compare patient-reported outcomes of patients who developed lymphedema with those who did not. Matched covariates included age, body mass index, race/ethnicity, smoking history, radiation or chemotherapy exposure, postoperative infection, and reconstruction modality and laterality. Outcomes of interest were pre- and postoperative BREAST-Q scores for Satisfaction with Breasts, Physical Well-being of the Chest, Sexual Well-Being, and Psychosocial Well-Being; the minimal clinically important difference (MCID) was four points. Matched cohorts included 322 patients per group. Preoperative BREAST-Q scores did not differ between lymphedema and non-lymphedema matched cohorts. PostoperativeBREAST-Q scores were significantly lower in lymphedema patients: Physical Well-Being of the Chest (all time points), Satisfaction with Breast (at 1and 2 years),Sexual Well-Being (at 2 years),and Psychosocial Well-Being (at 2 and 3 years).All significant differences in average scores were greater thanthe MCID. Patients with breast cancer-related lymphedema reported significantly lower Physical Well-Being of the Chest, Satisfaction with Breasts,Sexual Well-Being,and Psychosocial Well-Beingat various time points.Our findings may prove useful for patient counseling and justify the need for further research on the prevention and treatment of this devastating disease.

The Impact of the COVID-19 Pandemic on People With Lymphedema in an Endemic Area for Lymphatic Filariasis in Brazil.

Objectives: To investigate the repercussions of the COVID-19 pandemic on lymphedema patients from an endemic area of lymphatic filariasis. Methods: The study descriptive compared sociodemographic and clinical aspects, risk of falling and quality of life, prior and during the COVID-19 pandemic in 28 lymphedema patients, older than 18years old and under investigation of filarial infection. For the evaluation of functional mobility, the Time Up and Go test and The Medical Outcome Study Short Form-36 Health for quality of life, was used. Results: An increase in interdigital and dermal lesions, a higher frequency of acute dermatolymphangioadenitis crises and risk of falling, worsening of quality of life in the domains of physical functioning, general health, vitality, and mental health during the pandemic was observed. Conclusion: Our findings of clinical worsening and quality of life of patients during the COVID-19 pandemic indicate the need to reinforce the goal of the Lymphatic Filariasis Program regarding the follow-up of these patients in the actions of the Global Program for the Elimination of Lymphatic Filariasis, due to the discontinuity in the care during the pandemic.

Selecting appropriate compression for lymphedema patients: American Vein and Lymphatic Society position statement.

Lymphedema is a significant and disabling disorder affecting millions of people worldwide. Compression therapy is an important component of lifelong treatment but the specifics of appropriate compression garment selection and prescribing is not always well understood by practitioners and payers. An expert panel of the American Vein and Lymphatic Society was convened to write a Position Statement with explanations and recommendations for the appropriate compression therapy to be used in the treatment of lymphedema patients. A Position Statement was produced by the expert panel with recommendations for documentation and compression therapy treatment. Their recommendations were reviewed, edited, and approved by the Guidelines Committee of the society. This societal Position Statement provides a useful document for reference for medical care providers for the appropriate compression therapy selection and treatment of patients with lymphedema.

Distal- to- proximal sequential ICG injection technique (DOPSIT) for lymphatic vessels mapping

Supermicrosurgical lymphaticovenular anastomosis (LVA) is the most sought-after procedure among lymphedema patients. However, the same enthusiasm is currently not shared among lymphedema surgeons due to the lackluster results of LVA. The common unfavorable experience with this famed procedure is at least partially caused by the difficulty in finding the lymph vessels. We share our time-tested indocyanine green-based lymph vessel mapping technique, which has helped us establish LVA as our procedure for all fluid-predominant lymphedema.

Development of Home-Based Care Intervention Module for Filarial Lymphedema Patients

The study aims to describe the development and validation of an intervention module based on home-based care training for patients with filarial lymphedema. Qualitative and quantitative approaches were followed for the development of the intervention module. Initial steps involved the framing of the intervention module. Direct observation, interviews with patients, suggestions from five experts in community medicine, community health nursing, and plastic surgery department were conducted. The experts and patients for the discussion were chosen with the help of convenient sampling. The experts rated the usefulness and feasibility of the components on a scale of 1–5 (5 extremely helpful). The ingredients derived for the intervention module included washing and drying of limb, prevention, care of entry lesions, light oil massage, the exercise of limb, the elevation of the stem, wearing of appropriate footwear, and management of adenolymphangitis (ADL). The intervention included individual sessions with demonstration and return demonstration. The final version of the module was pilot tested among five patients and had been found to improve the quality of life. Home-based care training with low-cost interventions can improve patients’ quality of life.

Does Fear of Movement Affect Fatigue and Quality of Life in Lower Extremity Lymphedema?

Background: The aim of our study was to determine the causes of lower extremity kinesiophobia (whether it is biological or psychological) in individuals with lower limb lymphedema (LLL), and to compare the changes in fatigue and activities of daily living with healthy individuals. Methods: The study included 74 unilateral LLL patients (study group) and 74 individuals (control subjects). Causes of fear of movement were assessed with the Causes of Fear of Movement questionnaire; fatigue, with the Functional Assessment of Chronic Disease Treatment-Fatigue Questionnaire; and quality of life (QoL) with the Lymphedema Quality of Life Questionnaire-Leg. Results: One hundred forty-eight participants were included in the study, 74 of whom were in the study group and 74 in the control group. 63.5% of the lymphedema patients had primary lymphedema and 36.5% had secondary lymphedema. Fear of movement total score and QoL scores was higher in LLL group than control group. Total fear of movement score and biological subparameter score of fear of movement, fatigue, and some subparameters of QoL scores were found to be higher in primary LLL patients compared with secondary LLL. Conclusion: Fear of movement is common and QoL is impaired in patients with secondary LLL, more significant in primary LLL.

Lymphoscintigraphy in patients with breast cancer-related lymphedema after sentinel lymph node dissection and axillary radiation therapy

The purpose of this study was to investigate lymphoscintigraphy pattern according to the presence or absence of axillary site radiation therapy (aRTx) in breast cancer-related lymphedema (BCRL) patients who underwent sentinel lymph node dissection (SLND). The participants were patients who visited our facility from July 2014 to June 2021 due to upper extremity edema. Among them, patients who underwent SLND after the diagnosis of breast cancer were included. The participants were divided into a group without aRTx (group A) and a group with aRTx (group B). In each patient's lymphoscintigraphy, axillary lymph node uptake (ALNU), lymphatic flow delay, dermal back flow, and the presence of any collateral pathway were checked. Thirty-three patients were enrolled. In all, 27 patients were classified in Group A, and 6 patients were classified in Group B. Between the 2 groups, we found a significant difference (P value < .05) between groups at ALNU and lymphatic flow delay. However, there was no significant difference between groups at the dermal backflow and the presence of a collateral pathway (P value > .05). And 24.2% of patients who developed lymphedema after SLND showed normal lymphoscintigraphy. In this study we suggest that SLND and aRTx affects the activity of the axillary lymph node and ultimately adversely affects lymphatic flow, becoming a risk factor for lymphedema. In addition, regardless of SLND or aRTx, lymphedema may eventually occur in the patient with normal lymphoscintigraphy.

Power-assisted Liposuction for Lymphedema: A Cost-utility Analysis.

Extremity volumes from all patients who underwent debulking surgery of the upper extremity at two institutions between December 2017 and January 2020 with at least 12 months follow-up were included. Procedural costs were calculated using Medicare reimbursement data. Average utility scores were obtained for each health state using a visual analog scale, then converted to quality-adjusted life years. A decision tree was generated, and incremental cost-utility ratios were calculated. Sensitivity analyses were performed to evaluate our findings. Debulking surgery is associated with a higher clinical effectiveness (quality-adjusted life year) of 27.05 compared to conservative management (23.34), with a relative cost reduction of $74,487. Rollback analysis favored debulking surgery as the cost-effective option compared to conservative management. The resulting negative incremental cost-utility ratio of -20,115.07 favored debulking surgery and indicated a dominant strategy. Our study supports the use of debulking surgery for the treatment of chronic lymphedema of the upper extremity.

Is Lymphedema a Systemic Disease? A Paired Molecular and Histological Analysis of the Affected and Unaffected Tissue in Lymphedema Patients.

Secondary lymphedema is a chronic, debilitating disease and one of the most common side effects of oncologic surgery, substantially decreasing quality of life. Despite the progress conducted in lymphedema research, the underlying pathomechanisms remain elusive. Lymphedema is considered to be a disease affecting an isolated extremity, yet imaging studies suggest systemic changes of the lymphatic system in the affected patients. To evaluate potential systemic manifestations in lymphedema, we collected matched fat and skin tissue from the edematous and non-edematous side of the same 10 lymphedema patients as well as anatomically matched probes from control patients to evaluate whether known lymphedema manifestations are present systemically and in comparison to health controls. The lymphedematous tissue displayed various known hallmarks of lymphedema compared to the healthy controls, such as increased epidermis thickness, collagen deposition in the periadipocyte space and the distinct infiltration of CD4+ cells. Furthermore, morphological changes in the lymphatic vasculature between the affected and unaffected limb in the same lymphedema patient were visible. Surprisingly, an increased collagen deposition as well as CD4 expression were also detectable in the non-lymphedematous tissue of lymphedema patients, suggesting that lymphedema may trigger systemic changes beyond the affected extremity.

84 (PB-084) Poster - Quality of life and lymphedema incidence after axillary surgery in pN1 breast cancer patients: lymphadenectomy vs. Sentinel lymph node biopsy

Introduction: In the last decade, there has been a paradigm shift in axillary management in patients with breast cancer: the possibility of avoiding axillary lymph node dissection (ALND) in a specific group of breast cancer patients with axillary disease, to decrease the axillar surgery-related morbidity. Objectives: To Assess the impact on the quality of life (QoL) of ALND vs. Sentinel lymph node dissection (SLN) associated with radiotherapy for patients with node-positive breast cancer. To Appraise the incidence of lymphedema after axillary treatment in both groups. Methods: Retrospective observational study of surgery patients with node-positive breast cancer (pN1), at a university center from 2018 to 2019. In addition, a cross-sectional study was performed between May to July 2022 to assess the incidence of arm lymphedema measured by circometry and appraise QoL. We use the QLQ-BR23 questionnaire to assess the general QoL, and ULL-27 questionnaire to appraise the specific QoL scale in upper limb lymphedema, both for Spanish population. Results: 114 patients completed the questionnaires and measurements: 68 ALND patients and 46 SLN, with 40.8 months postoperative follow-up. The scores on both questionnaires were similar in all dimensions explored in both groups of patients, without significant clinical or statistical differences. In the lymphadenectomy group, the incidence of lymphedema was higher (32.4% vs 10.9%; p = 0.006). The QoL of lymphedema patients were globally similar than no lymphedema patients, but the QoL of symptomatic lymphedema was worse (BR-23: perspective dimension 56.9 vs 72.4, p = 0.002; sexual function 61.6 vs 77.9 p = 0.002 and ULL-27 (best 0 worse 100): physical dimension 37.8 vs 19.1 p = 0.003). Conclusions. The axillary node dissection does not produce a significant impact on the quality of life of patients with breast cancer and axillary involvement, despite developing lymphedema more frequently. The symptomatic lymphedema patients have worse quality of life. No conflict of interest.

SHORT DURATION OF UPPER EXTREMITY LYMPHEDEMA CORRELATES WITH A FAVORABLE CYTOKINE RESPONSE AFTER LYMPH NODE TRANSFER SURGERY

Vascularized lymph node transfer surgery (VLNT) can provide benefit to lymphedema patients. Cytokines may play a role in the development of lymphedema and in the regeneration of lymphatic vessels after VLNT. Our primary aim was to investigate whether the VLNT patients have a specific cytokine profile. Our secondary aim was to see whether the preoperative lymphedema or severity affects the postoperative cytokine response. Wound exudate was gathered from 18 patients undergoing VLNT on the first and sixth postoperative day (POD). The concentrations of IL-10, TNF-α, TGF-β1 and VEGF-C were analyzed using enzymelinked immune-sorbent assays. A general score was generated to assess the benefit of the surgery. The changes in cytokine concentrations (1st POD-6th POD) were correlated with the pre- and postoperative lymphedema related factors. A shorter duration of lymphedema preoperatively correlated with an increase in the concentration of IL-10 and TNF-β during the first six PODs (IL-10: r=0.495, p=0.051; TNF-α: r=0.737, p=0.006) and a decrease in the concentration of TGF-ß1 (r= -0.613, p=0.020). The increase of the concentration of TNF-α during the first six PODs also correlated with a greater total general score (r=0.775, p=0.005) and hence indicated a better response to the surgery. The patients with a shorter duration of lymphedema preoperatively had a more favorable cytokine response during the first six PODs after VLNT.

Analysis of the factors and moderating role of self-care ability among patients with breast cancer-related lymphedema.

To analyse the status quo and influencing factors of self-care ability in breast cancer-related lymphedema (BCRL) patients and explore the moderating role of social support between self-efficacy and self-care ability, to provide references for clinical intervention. The 'gold standard' for the treatment of lymphedema is two-stage Complete Decongestion Therapy (CDT). Due to the high frequency of patients seeking treatment and CDT is not covered by medical insurance, resulting the medical cost is high, and a set integrated course of edema treatment cannot be completed. Nevertheless, with sufficient self-care ability, patients can reduce the frequency of outpatient and inpatient treatments, and initiate detumescence procedures with affordable home care. Accordingly, it is necessary to pay attention to the self-care ability of BCRL patients. A descriptive and cross-sectional study following the STROBE guideline checklist. From June 2021 to January 2022, 156 BCRL patients were selected as convenience samples. Questionnaires were administered to the patients using the sociodemographic information questionnaire, the exercise of self-care agency scale, Chinese version of strategies used by people to promote health, and social support rating scale. Spearman rank correlation was used to analyse the relationship among the three, and univariate and multiple linear regression were used for factor analysis and process to explore the moderating role of social support. The total score of self-care ability of BCRL patients was 41.00 (32.50, 51.00). The self-efficacy and social support of BCRL patients were positively correlated with the total score and its dimensions of self-care ability. Disease duration, severity and difficulty raising limbs were negative correlation factors influencing the self-care ability of BCRL patients, and self-efficacy and social support were positive correlation factors, which could explain 77.8% of the total variation. The moderating role of social support between self-efficacy and self-care ability was significant, and its moderating role boundary value was 15.70. The self-care ability of BCRL patients is at a low level. The longer duration of lymphedema, the more serious degree of edema, the more difficulty raising limbs, the lower self-efficacy and the less social support, the poorer self-care ability of BCRL patients. Self-efficacy has a greater impact on the self-care ability of patients with high levels of social support. Factors and moderator-based models are the first to identify predictors of self-care ability and the moderating role of social support in Chinese BCRL patients, which may facilitate healthcare practitioners to develop appropriate interventions to manage self-care ability.

Deep learning-based quantitative estimation of lymphedema-induced fibrosis using three-dimensional computed tomography images

In lymphedema, proinflammatory cytokine-mediated progressive cascades always occur, leading to macroscopic fibrosis. However, no methods are practically available for measuring lymphedema-induced fibrosis before its deterioration. Technically, CT can visualize fibrosis in superficial and deep locations. For standardized measurement, verification of deep learning (DL)-based recognition was performed. A cross-sectional, observational cohort trial was conducted. After narrowing window width of the absorptive values in CT images, SegNet-based semantic segmentation model of every pixel into 5 classes (air, skin, muscle/water, fat, and fibrosis) was trained (65%), validated (15%), and tested (20%). Then, 4 indices were formulated and compared with the standardized circumference difference ratio (SCDR) and bioelectrical impedance (BEI) results. In total, 2138 CT images of 27 chronic unilateral lymphedema patients were analyzed. Regarding fibrosis segmentation, the mean boundary F1 score and accuracy were 0.868 and 0.776, respectively. Among 19 subindices of the 4 indices, 73.7% were correlated with the BEI (partial correlation coefficient: 0.420–0.875), and 13.2% were correlated with the SCDR (0.406–0.460). The mean subindex of Index 2 left( {frac{{P_{Fibrosis, in, Affected} - P_{Fibrosis, in, Unaffected} }}{{P_{Limb, in, Unaffected} }}} right) presented the highest correlation. DL has potential applications in CT image-based lymphedema-induced fibrosis recognition. The subtraction-type formula might be the most promising estimation method.

Five-year results after total knee arthroplasty in lymphoedema and lipoedema: encouraging functional and clinical outcomes and low rates of infection

BackgroundThe aim of this study was to define outcomes after total knee arthroplasty (TKA) in lymphoedema and lipoedema patients managed by a multidisciplinary team and daily compression bandaging.MethodsA retrospective study was performed in a single centre. Between 2007 and 2018, 36 TKA procedures were performed on 28 consecutive patients with a diagnosis of lymphoedema and lipoedema. Oxford Knee Scores (OKS), EuroQol-5D (EQ-5D) scores, satisfaction scores, radiographs, and complications were obtained at the final follow-up. Patients were admitted to the hospital up to two weeks prior to surgery and remained on the ward for daily compression bandaging by the specialist lymphoedema team.ResultsOver the study period, 36 TKAs were performed on 28 patients (5 males, 23 females) with a mean age of 71 years (range 54–90). Of these, 30 TKAs were in patients with lymphoedema, five with lipoedema, and one with a dual diagnosis. Overall, 28 TKAs (21 patients) were available at the final follow-up with a mean follow-up time of 61 months (range 9–138). The mean BMI was 38.5 kg/m2. The mean pre-operative and post-operative Oxford Knee Score increased from 18 (range 2–38) to 29 (range 10–54); p < 0.001. EQ-5D score increased from 0.48 (range 0.15–0.80) to 0.74 (0.34–1.00) (p < 0.001). Mean post-operative satisfaction was 7.6/10 (range 2–10), with 89.3% TKAs satisfied. Complications were one (4%, 1/28) deep vein thrombosis, one superficial wound infection, one prosthetic joint infection, one stiff knee requiring manipulation, and one intra-operative femoral fracture.ConclusionsLymphoedema and lipoedema should not be seen as barriers to TKA if adopting a multidisciplinary approach.

Comparative Analysis between Side-to-End and End-to-End Lymphaticovenous Anastomosis for Secondary Lower Limb Lymphedema.

The purpose of this retrospective study was to describe, evaluate, and compare the outcome between end-to-end and side-to-end lymphaticovenous anastomoses for all stages of lymphedema. A total of 123 patients were divided into the end-to-end ( n = 63) or the side-to-end ( n = 60) group. The demographics and intraoperative and postoperative findings were evaluated. In addition, subcategory evaluation was performed for early- and advanced-phase lymphedema. The demographic findings were insignificant. The intraoperative findings showed a significantly higher number of lymphaticovenous anastomoses performed for the end-to-end group (4.1 ± 1.7) over the side-to-end group (3.2 ± 1.2) ( p < 0.001), whereas the number of different lymphatic vessels used per patient was not significant (3.4 ± 1.4 versus 3.2 ± 1.2; p = 0.386). The diameter of the lymphatic vessels was not significant (0.43 ± 0.06 mm versus 0.45 ± 0.09 mm; p = 0.136). Although both groups showed significant postoperative volume reduction, the side-to-end group had a significantly better reduction in all time intervals ( p < 0.03) and longitudinal outcome ( p = 0.004). However, the subcategory evaluation for early-phase patients showed no difference between the two groups, but a significantly better volume reduction ratio was noted for the side-to-end group at all time intervals ( p < 0.025) in addition to overall longitudinal outcome ( p = 0.004) in advanced lymphedema patients. This is the first study to report the efficacy of end-to-end versus side-to-end lymphaticovenous anastomosis in different phases of lymphedema. Although both end-to-end and side-to-end lymphaticovenous anastomoses are significantly effective in volume reduction, there was a significantly better reduction for the side-to-end group in advanced-phase lymphedema patients with stage II late and stage III disease, whereas no difference was noted for early-phase lymphedema patients. Therapeutic, III.

Lymphaticovenular Anastomosis: Superficial Venous Anatomical Approach.

Background Lymphaticovenular anastomosis (LVA) is an effective, functional treatment for limb lymphedema. This study reports an alternative surgical approach to lymphedema treatment without the use of indocyanine green mapping. Methods A retrospective analysis was performed on 29 consecutive lymphedema patients who underwent LVAs from January 2015 to December 2020, whereby incisions were made along the anatomy of the superficial venous systems in both upper and lower extremities around the joint areas. The evaluation included qualitative assessments and quantitative volumetric analyses. Result The mean number of anastomoses was 3.07, and the operative time was 159.55 minutes. Symptom improvement was recorded in 86.21% of the patients, with a mean volume reduction of 32.39%. The lymphangitis episodes decreased from 55.17% before surgery to 13.79% after surgery, and the median number of lymphangitis episodes per year decreased from 1 before surgery to 0 after surgery. Conclusions The superficial venous anatomical approach is an easy way to start a lymphedema practice using LVA without other advanced surgical equipment. With this reliable technique, microsurgeons can perform LVA procedures and achieve good results.

Lymphatic Tissue Transfer: Ultrasound-Guided Description and Preoperative Planning of Vascularised Lymph Nodes, Lymphatic Units, and Lymphatic Vessels Transfers.

Background: The modern concept of lymphatic transfer includes vascularised lymph node transfer (VLNT), lymphatic vessels transfer (lymph interpositional flap transfer, LIFT) and lymphatic system transfer (vascularised lymph nodes and afferent lymphatics, LYST). The aim of this paper was to report our experience with different types of lymphatic transfer. Patients and Method: From June 2016 to June 2020, 30 consecutive patients affected by extremity lymphedema and 15 patients affected by post-traumatic lower extremity soft tissue defects, underwent lymphatic transfer (VLNT, LYST or LIFT). All cases were preoperatively evaluated by both high frequency and ultra-high frequency ultrasound. Flap features were recorded, as well as qualitative and quantitative outcomes at 1 year postoperative. Results: The mean postoperative lymphedema index reduction was 7.2 ± 5.7 for upper extremity and 20.7 ± 7.1 for lower extremity. No dismission of compression garments occurred, 12 patients (26%) referred more stable results of physical treatment and 1 case showed a 1-class compression reduction. All the LIFTs aimed as preventive did not develop post-traumatic lymphedema. In all cases of distal placement of VLNT and/or LYST, patients were dissatisfied with the aesthetic appearance of reconstruction, while no donor site scar disappointment was referred. Conclusion: When LVA is not feasible, LTT may represent a valid treatment option. This report was aimed at comprehensively describing and assessing how different lymphatic tissue transfer modalities may fulfil the different reconstructive needs of lymphedema patients.

Phase 1 Lymfactin® Study: 24-month Efficacy and Safety Results of Combined Adenoviral VEGF-C and Lymph Node Transfer Treatment for Upper Extremity Lymphedema

Lymphedema is a common problem after breast cancer treatment. Lymfactin® is a prolymphangiogenic growth factor vector inducing the expression of human vascular endothelial growth factor C (VEGF-C). It promotes growth and repair of lymphatic vessels. Lymfactin® was combined with microvascular lymph node transfer surgery (VLNT) to study the safety and efficacy of the treatment in breast cancer-related upper limb lymphedema (BCRL) patients. This is a continuation study with a 3 year efficacy and 5 year safety follow-up. Fifteen patients were recruited in the study between June 2016 and February 2018. Three patients received a lower dose (1×1010 viral particles (vp)), and 12 patients received a higher dose (1×1011 vp) of Lymfactin®, respectively. In the higher dose group, the reduction of excess arm volume was on average 46% after the 12 month follow-up, and the transport index was improved in 7/12 patients. At baseline, removal of the compression garment for 7 days resulted in significant arm swelling (105.7±161.0 ml, p=0.0253). However, at 12 months, there was less and not significant swelling after removal of the garment (84.4±143.0 ml, p=0.0682). Lymphedema Quality of Life Inventory (LQOLI or LyQLI) questionnaire showed significant and sustained improvement of quality of life. During 24 months' of follow-up, the results indicate that Lymfactin® is well tolerated. The most promising findings were a 46% reduction in excess arm volume and a nonsignificant volume increase after garment removal at 12 months, suggesting that there is potential for the reduction of lymphedema.

Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing

Lymphedema is a progressive disease caused by lymphatic flow blockage in the lymphatic pathway. Primary (hereditary) lymphedema is caused by genetic mutations without secondary causes. We performed clinical profiling on Korean primary lymphedema patients based on their phenotypes using lymphoscintigraphy and made genetic diagnoses using a next-generation sequencing panel consisting of 60 genes known to be related to primary lymphedema and vascular anomalies. Of 27 patients included in this study, 14.8% of the patients had lymphedema of the upper extremities, 77.8% had lymphedema of the lower extremities and 7.4% had 4-limbs lymphedema. Based on the International Society of Lymphology staging, 14, 10, and 3 patients had stage 3, 2, and 1 lymphedema, respectively. Only one family was genetically confirmed to harbor likely pathogenic variants in CELSR1. The proband was carrying two likely pathogenic variants in CELSR1, while her symptomatic mother was confirmed to carry only one of the variants. Furthermore, two other variants of uncertain significance in CELSR1 were detected in other patients, making CELSR1 the most commonly altered gene in our study. The clinical and genetic profile of hereditary lymphedema reported here is the first such data series reported for South Korea.

Reliability and Validity of the Korean Version of the Lymphedema Quality of Life Questionnaire in Breast Cancer-Related Lymphedema Patients.

Background: This study aimed to demonstrate the reliability and validity of the Korean version of the Lymphedema Quality of Life (LYMQOL) questionnaire. Methods and Results: This study was a multicentered cross-sectional survey of patients with breast cancer-related lymphedema. The LYMQOL-arm questionnaire was translated from English to Korean. This 28-item instrument contains the overall quality of life (QOL) and is categorized into four domains: function, appearance, symptoms, and mood. In addition, the demographics and characteristics of lymphedema were assessed by reviewing the medical records. The LYMQOL-arm, European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30), and Breast Cancer Module 23 (EORTC QLQ-BR23) were administered. The internal consistency of the LYMQOL-arm was analyzed using Cronbach's α, and test-retest reliability was examined using the intraclass correlation coefficient (ICC). Concurrent validity was evaluated using Pearson's correlation test between the LYMQOL-arm and the EORTC QLQ instruments. A total of 62 participants were enrolled in the study. All domains of the LYMQOL-arm showed high internal consistency, and the ICC of each domain and overall QOL ranged from 0.836 to 0.956 (p < 0.001). All domains and overall QOL scores of the LYMQOL-arm significantly correlated with most of the EORTC QLQ-C30 and EORTC QLQ-BR23 scales. Furthermore, it revealed a significant association with the degree of perceived edema. Conclusions: The Korean version of the LYMQOL-arm questionnaire has proven its reliability and validity in assessing QOL in patients with breast cancer-related lymphedema.