Yellow Nail Syndrome: Analysis of 23 Consecutive Patients and Effect of Combined Fluconazole-Vitamin-E Treatment.

INTRODUCTION: Yellow nail syndrome (YNS), a very rare disorder of unknown etiology, is characterized by a triad associating yellow nails, respiratory manifestations, and lymphedema. YNS treatment remains non-codified. METHOD: This retrospective study was conducted from January 2008 to December 2022 in a single tertiary department exclusively dedicated to lymphatic diseases. All consecutive patients with YNS were included. RESULTS: Thirteen men and 10 women were included. Three patients had yellow nails at birth or during childhood. For the other 20 patients, median (Q1-Q3) age at first sign was 50.8 (43-61) years, with first-YNS-sign-to-diagnosis interval of 17 (10-56) months. For 4 patients, YNS was associated with primary intestinal lymphangiectasia. The first YNS sign was chronic cough (45.5%), followed by yellow nails (27.3%), chronic sinusitis (18.2%), and lymphedema (9.1%). At first consultation for all patients, 69.6% had the complete triad, all had yellow nails and cough, 82.6% had chronic sinusitis, and 69.6% had lymphedema. Twelve patients' lymphedema involved only the lower limb(s), 2 the lower and upper limbs, and 2 the lower and upper limbs and face. Nineteen (82.6%) patients were prescribed fluconazole (100 mg/day [n = 8] or 300 mg/week [n = 11]) combined with vitamin E (1,000 mg/day) for a median of 13 months. Responses were complete for 4 (21.1%) patients, partial for 8 (42.1%), and therapeutic failures for 7 (36.8%). CONCLUSIONS: YNS is a rare disease that almost always starts with a chronic cough. Despite inconstant efficacy, fluconazole-vitamin E in combination can be prescribed to treat yellow nails.

Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.

As protein-losing enteropathy (PLE) can lead to hypogammaglobulinemia and lymphopenia, and since common variable immunodeficiency (CVID) is associated with digestive complications, we wondered if (1) PLE could occur during CVID and (2) specific features could help determine whether a patient with antibody deficiency has CVID, PLE, or both. Eligible patients were thus classified in 3 groups: CVID + PLE (n = 8), CVID-only (= 19), and PLE-only (n = 13). PLE was diagnosed using fecal clearance of α1-antitrypsin or 111In-labeled albumin. Immunoglobulin (Ig) A, G, and M, naive/memory B and T cell subsets were compared between each group. CVID + PLE patients had multiple causes of PLE: duodenal villous atrophy (5/8), nodular follicular hyperplasia (4/8), inflammatory bowel disease-like (4/8), portal hypertension (4/8), giardiasis (3/8), and pernicious anemia (1/8). Compared to the CVID-only group, CVID + PLE patients had similar serum Ig levels, B cell subset counts, but lower naive T cell proportion and IgG replacement efficiency index. Compared to the CVID-only group, PLE-only patients did not develop infections but had higher serum levels of IgG (p = 0.03), IgA (p < 0.0001), and switched memory B cells (p = 0.001); and decreased naive T cells (CD4+: p = 0.005; CD8+: p < 0.0001). Compared to the PLE-only group, CVID + PLE patients had higher infection rates (p = 0.0003), and lower serum Ig (especially IgA: p < 0.001) and switched memory B cells levels. In conclusion, PLE can occur during CVID and requires higher IgG replacement therapy dosage. PLE can also mimic CVID and is associated with milder immunological abnormalities, notably mildly decreased to normal serum IgA and switched memory B cell levels.

PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.

Primary lymphedema, a rare disease, has a genetic cause in ~40% of patients. Recently, loss-of-function mutations in PIEZO1, which encodes the mechanotransducer protein PIEZO1, were described as causing primary lymphedema, when gain-of-function PIEZO1 mutations were attributed to dehydrated hereditary stomatocytosis type-1 (DHS), a dominant red cell hemolytic disorder, with ~20% of patients having perinatal edema. Lymphedema was diagnosed in a 36-year-old man from a three-generation DHS family, with a PIEZO1-allele harboring 3 missense mutations in cis. Four affected family members had severe fetal and neonatal edema, most severe in the proband, whose generalized edema with prevailing ascites resolved after 8 months. Our patient's intermittent lower limb-lymphedema episodes during hot periods appeared at puberty; they became persistent and bilateral at age 32. Clinical Stemmer's sign confirmed lymphedema. Lower leg lymphoscintigraphy showed substantial dermal backflow in both calves, predominantly on the right. Noncontrast magnetic resonance lymphography showed bilateral lower limb lymphedema, dilated dysplastic lymphatic iliac, and inguinal trunks. Exome-sequencing analysis identified no additional pathogenic variation in primary lymphedema-associated genes. This is the first description of well-documented lymphedema in an adult with PIEZO1-DHS. The pathophysiology of PIEZO1-associated primary lymphedema is poorly understood. Whether it infers overlapping phenotypes or different mechanisms of gain- and loss-of-function PIEZO1 mutations deserves further investigation.

Impact of breast cancer-related lymphedema on working women.

BACKGROUND: The professional impact of upper limb lymphedema, which affects 15-20% of women after breast cancer treatment, has been poorly evaluated. OBJECTIVE: To analyze lymphedema characteristics and global lymphedema- and/or sleeve-attributed impact (mildly inconvenient to severely debilitating) on professional activities, workplace relationships, and workstation ergonomics. METHODS: Patients received a standardized, anonymous, self-administered questionnaire at consultation/hospitalization for treatment in a specialized lymphedema management center. RESULTS: All 134 consecutive women (March/2015-March/2017; median age 54), with 53-month median lymphedema duration and 34% median excess volume, were included; 35% considered global impact (arm-use impairment) high. For high vs. low global impact during occupational activities, univariate analyses identified global impairment as being associated with the low (23.8%), intermediate (60%), or high (63.2%) (p < 0.01) arm-use level, while multivariate analyses retained intermediate (OR 6.9 [95% CI 1.1-118.1], p < 0.01) and high (OR 4.5 [95% CI 1.5-37.3], p < 0.05) vs. low arm-use level. Lymphedema affected the careers of 70 (52.2%) patients, mostly those with severely impaired arm movement (53.8% vs. 10.2, p < 0.001), without modifying their relationships with colleagues and superiors for 84 (62.7%). Highly impaired women reported changed relationships with colleagues (45% vs. 20%, p < 0.01) and superiors (43.6% vs. 16.9%, p < 0.01). Only 10 women's (7.5%) job changes reflected lymphedema or its treatment. Workplace adaptations (53% ergonomic) were made for 36 (26.9%) patients, mostly those with greater arm-movement impairment (43.6% vs. 25.3%, p < 0.05), who were highly satisfied (86%). CONCLUSION: Upper limb lymphedema can significantly impact work, sometimes upending careers. The rare workstation adaptations were beneficial. Occupational physicians should assess lymphedema-attributed difficulties to improve working conditions.

Specialized consultations in a hospital-based referral center for patients suspected of having limb lymphedema: Impact on diagnosis.

Lymphedema, a chronic debilitating disease, is not always easily diagnosed. A total of 254 new patients ((217 women, 37 men), median (Q1-Q3) age 61 (46-72) years) were referred for suspected limb lymphedema to an exclusively lymphedema-dedicated department for a first consultation (January - March 2015) were included; among 118 with upper limb involvement, 100 (84.7%) were diagnosed with post-breast cancer therapy and four with primary lymphedemas; among 136 with lower limb involvement, 31 (22.8%) were diagnosed with primary lymphedemas and 35 (25.7%) with post-cancer lymphedemas. The main alternative diagnoses were: 32 (45.7%) lipedemas/lipo-lymphedemas and 21 (30%) chronic venous insufficiencies. Age at symptom onset, body mass index, referral origins and first-symptom-to-specialized-consultation intervals differed between primary, post-cancer lymphedema and alternative diagnosis patients. Among the entire cohort, 57 (22.4%) had cellulitis. For all 135 (53.1%) upper or lower limb post-cancer lymphedemas and the 119 (46.9%) others, the median (Q1-Q3) first-symptom-to-specialized-consultation intervals were 1.4 (0.7-3.8) and 4 (1.1-18.8) years, respectively ( p < 0.0001). Specialized consultations confirmed primary and post-cancer lymphedema diagnoses and identified others, especially for patients with suspected lower limb lymphedema.

Impact of carpal tunnel syndrome surgery on women with breast cancer-related lymphedema.

Carpal tunnel syndrome may occur in women with ipsilateral lymphedema after breast cancer treatment. Surgery on the lymphedematous arm is classically feared. Thirty-two consecutive women (mean age at cancer treatment 49 years, interquartile range (Q1;Q3) 43;56) with upper limb lymphedema after breast cancer treatment, followed in a single lymphology unit, and symptomatic carpal tunnel syndrome (electromyographically confirmed) requiring surgery were included. Lymphedema volume was calculated using the truncated cone formula, recorded before and after carpal tunnel syndrome surgery, and at each follow-up visit. Median time to lymphedema onset after cancer treatment was 19 (interquartile range (Q1;Q3) 5;73) months. Median lymphedema volume was 497 (Q1;Q3 355;793) mL before (median 4 months) and 582 (Q1;Q3 388;930) mL after carpal tunnel syndrome surgery (median 5 months) (P = 0.004). At the last follow-up post-carpal tunnel syndrome surgery (median 33 months), lymphedema volume was 447 (Q1;Q3 260;733) mL (non-significant, compared to pre-surgery volume). Regular lymphedema treatment included elastic sleeve (n = 31), low-stretch bandage (n = 20), and/or manual lymph drainage (n = 20), with no change before and after carpal tunnel syndrome surgery. All carpal tunnel syndrome clinical manifestations disappeared after surgery and none of the patients experienced local complications. Carpal tunnel syndrome may be treated surgically in women with ipsilateral upper limb lymphedema after breast cancer treatment. Although lymphedema volume increased transiently, it remained stable over long-term follow-up, with no local complications.

[Update of indications and techniques for the management of lymphedema after breast cancer surgery]. / Actualisation des indications et des techniques de prise en charge du lymphœdème après chirurgie du cancer du sein.

OBJECTIVES: Upper limb lymphedema secondary to breast cancer treatment is the leading cause of lymphedema in France. Despite improved surgical practices and de-escalation of radiotherapy, the risk of lymphedema after breast cancer still affects 5-20% of patients, with this variation depending on the measurement method used and the population studied. Lymphedema has a negative impact on quality of life and body image, and their possible occurrence remains a major concern for all women treated for breast cancer. The Sénologie Commission of the Collège national des gynécologues et obstétriciens français (CNGOF) asked four specialists in breast surgery or lymphology to prepare a summary on the prevention, medical and surgical management of lymphedema after breast cancer treatment, and to discuss the medical and surgical innovations currently being evaluated. METHODS: This synthesis was based on national and international guidelines on the management of upper limb lymphedema after breast surgery and a recent review of the literature focusing on the years 2020-2023. RESULTS: From a preventive point of view, the restrictive instructions imposed for a long time (reduction in physical activity or the carrying of loads, air travel, exposure to the sun or cold, etc.) have altered patients' quality of life and should no longer be recommended. A good understanding of risk factors enables us to target preventive actions. Examples include obesity, a sedentary lifestyle, axillary clearance, radiotherapy of the axillary fossa in addition to axillary clearance, total mastectomy, taxanes or anti-HER-2 therapies in the adjuvant phase. Resumption of physical activity, minimally invasive axillary surgery, de-escalation of radiotherapy and breast-conserving surgical procedures have all demonstrated their preventive value. When lymphedema does occur, early management, through complete decongestive physiotherapy, can help reduce its volume and prevent its long-term worsening. CONCLUSION: Surgical (lymph node transplants, lympho-vascular anastomoses) and medical (prolymphangiogenic growth factors) approaches to lymphedema treatment are numerous, but require long-term evaluation of their efficacy and adverse effects.

Positive Impact of a New Compressive Garment in Patients with Genital Lymphedema: OLYMPY Study.

Purpose: Genital lymphedema is a chronic debilitating condition associated with highly impaired health-related quality of life (QoL). This prospective multicenter study evaluated the use of a new compressive garment in patients with secondary and primary genital lymphedema. Methods: Thirty-two patients prospectively enrolled were advised to wear the compressive garment for 12 weeks (day and night). The primary endpoint was change in patient-reported QoL at 12 weeks via the patient global impression of change (PGI-C) instrument. Secondary outcomes included change in other QoL measures at 12 weeks (visual analog scale, Lymphedema Quality of Life Inventory [LyQLI], and EQ-5D questionnaires), lymphedema severity (genital lymphedema score [GLS]), and physician assessment (Clinical Global Impression-Improvement [CGI-I]). Safety and tolerability were also assessed. Results: After 12 weeks, improvement was reported in 78.6% of patients (PGI-C). Physician assessment (CGI-I) indicated clinical improvement in 82.8% of patients. Patient assessment of lymphedema symptoms showed a significant decrease in discomfort (p = 0.02) and swelling (p = 0.01). Significant declines in the mean global GLS (p < 0.0001), and in the proportion of patients reporting heaviness, tightness, swelling, or urinary dysfunction (p < 0.05 for all), were also observed. LyQLI scores decreased (indicating improved QoL) in each of the physical, psychosocial (p = 0.05), and practical domains. The compressive garment was well tolerated with high compliance, and adverse events (due to swelling or discomfort) led to permanent discontinuation in only three patients. Conclusion: The use of a new genital compression garment over 12 weeks improves the QoL and clinical measures in patients with genital lymphedema (ClinicalTrials.gov ID: NCT04602559; Registration: October 20, 2020).

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.

Lymphoedema is caused by an imbalance between fluid production and transport by the lymphatic system. This imbalance can be either caused by reduced transport capacity of the lymphatic system or too much fluid production and leads to swelling associated with tissue changes (skin thickening, fat deposition). Its main common complication is the increased risk of developing cellulitis/erysipelas in the affected area, which can worsen the lymphatic function and can be the cause of raised morbidity of the patient if not treated correctly/urgently. The term primary lymphoedema covers a group of rare conditions caused by abnormal functioning and/or development of the lymphatic system. It covers a highly heterogeneous group of conditions. An accurate diagnosis of primary lymphoedema is crucial for the implementation of an optimal treatment plan and management, as well as to reduce the risk of worsening. Patient care is diverse across Europe, and national specialised centres and networks are not available everywhere. The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) gathers the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular diseases. There are six different working groups in VASCERN, which focus on arterial diseases, hereditary haemorrhagic telangiectasia, neurovascular diseases, lymphoedema and vascular anomalies. The working group Paediatric and Primary Lymphedema (PPL WG) gathers and shares knowledge and expertise in the diagnosis and management of adults and children with primary and paediatric lymphoedema. The members of PPL WG have worked together to produce this opinion statement reflecting strategies on how to approach patients with primary and paediatric lymphoedema. The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed.

Intensive complete decongestive physiotherapy for cancer-related upper-limb lymphedema: 11 days achieved greater volume reduction than 4.

BACKGROUND: Upper-limb lymphedema (ULL) occurs in 15-20% of women after breast-cancer treatment. Its intensive therapy relies on complete (complex) decongestive physiotherapy (CDP), whose duration is not well-established. OBJECTIVE: Determine optimal intensive-phase CDP duration for lymphedema-volume reduction and factors predicting its success, with the hope of halving it from 11 to 4 days. METHODS: All patients with ULL (08/2011-06/2012) after breast-cancer treatment referred to our Department of Lymphology in a rehabilitation facility for 11 days of CDP were eligible. Lymphedema volume was calculated using the truncated-cone formula. Volume reduction considered clinically relevant after 4 days was defined as ≥ 75% of the total reduction obtained after 11 days. RESULTS: We included 129 women (median age: 64 (range: 42-88) years). Mean (sd) lymphedema volume was 907 (558) ml at CDP onset, decreased to 712 (428) ml after 4 days (vs. onset, P<.0001) and 606 (341) ml after 11 days (vs. 4, P<.0001), corresponding to 33% total lymphedema-volume reduction. For all patients, 4 days of CDP achieved 63% (sd 40%) of that total reduction, with ≥ 75% for 50 (39%) patients. Surgery-to-lymphedema-onset interval >2 years was the only factor significantly associated with 4 days achieving ≥ 75% of the total lymphedema-volume reduction. CONCLUSION: Intensive phase CDP for 11 days obtained significantly more volume reduction of breast cancer-related ULL than 4.

Consensus recommendations on lymphedema in Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10-25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations. The mechanism causing lymphedema in PMS is unknown. Lymphedema can be suggested by pitting oedema of the extremities or, in later stages, non-pitting swelling. It can occur already at a young age and be progressive if untreated, impacting daily functioning. Lymphedema can be treated using existing general multidisciplinary management guidelines, taking the functioning of the individual with PMS into account. Furthermore, well-known risk factors for the development of lymphedema as lack of physical activities and weight gain/obesity should be addressed. Diagnosis and treatment are best performed in a multidisciplinary centre of expertise.

Pseudotumoural presentation of neuro-Behcet's disease: case series and review of literature.

OBJECTIVE: To describe the pseudotumoural presentation of neuro-Behçet's disease (NBD). METHODS: We report here the main characteristics, treatment and outcome of 23 patients (5 personal cases and 18 patients from the literature) with a pseudotumoural presentation of NBD. Pseudotumoural NBD patients were compared with 69 consecutive patients, with a classical form of NBD. RESULTS: The median age was 39 (range 27-48 years) years, with a male predominance (65.2%). Clinical features of the pseudotumoural NBD included hemi- or tetra-pyramidal symptoms (n = 20), headache (n = 17), cerebellar syndrome (n = 3), sphincter impotence (n = 3) and pseudobulbar signs (n = 2). CNS imaging showed pseudotumoural lesions mainly in the capsulo-thalamic area (69.6 vs 11.6% for classical NBD; P < 0.01). Histological analysis revealed necrotic lesions with perivascular inflammatory infiltrate without signs of tumoural or infectious lesions. Patients with pseudotumoural NBD had more severe initial disability status (Rankin's score ≥3 in 65.2 vs 24.7%; P < 0.01) and had a 3 years' longer duration between neurological signs and BD diagnosis (P = 0.01) compared with patients with classical NBD. Treatment consisted of CSs (n = 21, 95.5%) and immunosuppressive agents (n = 10, 35.7%) that led to complete clinical and imaging remission in 60.9% of patients. Two (8.7%) of the 23 patients with pseudotumoural NBD died of bedridden state complications. CONCLUSION: The pseudotumoural form of NBD is a rare and life-threatening condition.

[Prise en charge médicale du lymphoedème]. / Medical management of limb lymphedema.

MEDICAL MANAGEMENT OF LIMB LYMPHEDEMA. Lymphedema results from impaired lymphatic transport then tissue modifications (adipose deposition, thickening skin) leading to an increased limb volume. Lymphedema management is based on complete decongestive physiotherapy (multilayer low stretch bandage, manual lymph drainage, skin care, exercises). First phase of treatment achieves lymphedema volume reduction and the second phase stabilizes the volume. Multilayer low-stretch bandage and elastic compression are the cornerstone of the complete decongestive physiotherapy. Patient's education with self-bandage learning is also required. Erysipelas is the most common complication, but psychological or functional discomfort may occur throughout the course of lymphedema.

Prise en charge médicale du lymphoedème. Les lymphoedèmes sont la conséquence d'une stase lymphatique puis d'une transformation tissulaire (tissu adipeux, épaississement cutané) provoquant une augmentation de volume du membre atteint. Le traitement repose sur la physiothérapie décongestive complète (bandages peu élastiques monotypes avec des bandes à allongement court, exercices, drainages lymphatiques manuels, soins de peau) dont la première phase, intensive, permet de diminuer le volume et la seconde de le stabiliser par le port de compression élastique. L'éducation thérapeutique comprenant l'apprentissage des autobandages est nécessaire, L'érysipèle est la complication la plus fréquente des lymphoedèmes, en dehors du retentissement fonctionnel et psychologique, parfois important.

Genital Lymphedema after Cancer Treatment: A Narrative Review.

Genital lymphedema may affect males and females after cancer treatment (gynecological, such as cervical, uterine or ovarian, melanoma, prostate, anus…). It is frequently associated with lower limb lymphedema, and is responsible for discomfort, cosmetic disfigurement and functional disturbances. Impacts on body image, sexual function and quality of life are major, and difficult to explore because cancer treatment itself and lymphedema are so closely interwoven. Local complications, e.g., papillomatosis, warty growth, lymph vesicles with embarrassing lymph oozing and cellulitis, may occur. Usual lymphedema therapies, like bandaging and elastic compression, are poorly adapted to these sites. Surgery, essentially based on cutaneous resection techniques, is the primary symptomatic treatment; it achieves good efficacy, in adults and children, with possible recurrence requiring reintervention.

Cellulitis risk factors for patients with primary or secondary lymphedema.

BACKGROUND: Limb lymphedema is a chronic disease with primary and secondary forms, with the latter occurring essentially after cancer treatment. In the present study, we retrospectively analyzed the cellulitis frequency and its associated risk factors for patients with primary or secondary limb lymphedema. METHODS: Information from all 1991 patients referred to a specialized lymphedema center from January to June 2018 was collected, including previous cellulitis episodes and the clinical and lymphedema characteristics. RESULTS: Of the 1846 patients whose information could be analyzed, 695 (37.6%) had experienced one or more cellulitis episodes, and 23.3% had had recurrent cellulitis. Cellulitis occurred in 39.5%, 30.5%, and 38.6% (P = .02) of the patients with secondary upper limb, secondary lower limb, and primary lower limb lymphedema, respectively. The corresponding duration of lymphedema was 106.5, 97, and 243.1 months. For secondary upper limb lymphedema, a long interval from lymphedema onset to the first consultation at our specialized center, younger age at lymphedema onset, and the use of radiotherapy were independently associated with cellulitis. However, axillary lymph node excision, the use of chemotherapy, and segmentation of the upper limb lymphedema were not associated with cellulitis. A longer interval from lymphedema onset to the first consultation and lymph node excision were associated with cellulitis in those with lower limb secondary lymphedema but higher body mass index and younger age at lymphedema onset were not. For primary lower limb lymphedema, male sex, greater body mass index, and younger age at lymphedema onset were associated with cellulitis. CONCLUSIONS: Different risk factors for cellulitis were identified for patients with lymphedema at risk. Awareness of those factors is important for physicians to recognize lymphedema promptly and refer patients to specialized centers to optimize treatment.

Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN).

Little is known about the overall prevalence of lymphoedema in children and the types of paediatric lymphoedema seen by specialist centres. Therefore, this study was aimed to provide a profile of children with primary or secondary lymphoedema seen by the expert centres of the paediatric and primary lymphoedema working group (PPL-WG) of VASCERN and to compare the profile between the different countries. A retrospective review of all children (aged up to 18 years) seen for the first time by the expert centres over one year (2019) was carried out. Lymphoedema-, patient- and genetics-related data was collected and described for the whole group and compared between the different European countries/UK. In 2019, a total of 181 new children were seen by eight expert centres. For primary lymphoedema, the phenotype was based on the St George's classification of lymphatic anomalies. The percentages diagnosed according to each category were: 7.2% for syndromic lymphoedema, 2.8% for systemic/visceral involvement, 30.4% for congenital, 35.9% for late-onset lymphoedema and 19.3% for vascular/lymphatic malformations. 4.4% had secondary lymphoedema. Nearly 10% of all children had had at least one episode of cellulitis. The median delay from onset of symptoms to being seen by an expert centre was 2.4 years. In 44.4% of the children with primary lymphoedema a genetic test was performed, of which 35.8% resulted in a molecular diagnosis. Across the different centres, there was a wide variety in distribution of the different categories of paediatric lymphoedema diagnosed and the frequency of genetic testing. In conclusion, this paper has demonstrated that there is a large delay between the onset of paediatric lymphoedema and the first visit in the expert centres and that an episode of cellulitis is a relatively common complication. Diagnostic variation across the centres may reflect different referral criteria. Access to genetic testing was limited in some centres. It is recommended that these issues are addressed in the future work of the PPL-WG to improve the referral to the expert centres and the consistency in service provision for paediatric lymphoedema in Europe.

Factors influencing breast cancer-related lymphedema volume after intensive decongestive physiotherapy.

BACKGROUND: Lymphedema treatment is based on an intensive decongestive physiotherapy phase of volume reduction followed by a long-term maintenance phase. Factors influencing the morbid lymphedema volume increase during maintenance were analyzed. MATERIALS AND METHODS: Among 867 consecutive women recruited and followed in a single lymphology unit, 682 were analyzed. The other 185 were not analyzed because of an initial lymphedema volume <250 ml, <20% lymphedema volume decrease during the intensive phase, or they were lost to follow-up. Lymphedema volume was recorded prior to and at the end of intensive phase, and at each follow-up visit. During follow-up, treatment failure was defined as a lymphedema volume increase of ≥50% of the total reduction obtained during the intensive phase. RESULTS: Median lymphedema volume was 936 ml before and 335 ml after intensive decongestive physiotherapy (P < 0.0001). Median follow-up was 28 months. During the maintenance phase, the risk of treatment failure at 1, 2, and 4 years was estimated to be 38.1%, 53.1%, and 64.8%, respectively. Wearing an elastic sleeve during the day and an overnight multilayer low-stretch bandage (median, four nights per week; interquartile range, 2-6) significantly decreased the risk of treatment failure [hazard ratio, 0.53, (0.34-0.82), P = 0.004], whereas manual lymph drainage adjunction to those therapeutic components did not. The risk of treatment failure was also associated with weight and body mass index at inclusion. CONCLUSION: Risk of maintenance-therapy failure after intensive decongestive physiotherapy was associated with patients characteristics (younger age, higher weight, and body mass index), while elastic sleeve and bandage were associated with better maintenance results. Paradoxical effect of manual lymph drainage is likely to be related to indication bias.