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Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

ABSTRACT: Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS), based on a critical literature review and multidisciplinary expert consensus, is to provide health professionals with an explanation of the optimal management and care of patients with primary lymphedema. This PNDS, written by consultants at the French National Referral Center for Primary Lymphedema, was published in 2019 ( https://has-sante.fr/upload/docs/application/pdf/2019-02/pnds_lymphoedeme_primaire_final_has.pdf ). Primary lymphedema can be isolated or syndromic (whose manifestations are more complex with a group of symptoms) and mainly affects the lower limbs, or, much more rarely, upper limbs or external genitalia. Women are more frequently affected than men, preferentially young. The diagnosis is clinical, associating mild or non-pitting edema and skin thickening, as confirmed by the Stemmer's sign (impossibility to pinch the skin on the dorsal side or the base of the second toe), which is pathognomonic of lymphedema. Limb lymphoscintigraphy is useful to confirm the diagnosis. Other causes of swelling or edema of the lower limbs must be ruled out, such as lipedema. The main acute lymphedema complication is cellulitis (erysipelas). Functional and psychological repercussions can be major, deteriorating the patient's quality of life. Treatment aims to prevent those complications, reduce the volume with low-stretch bandages, then stabilize it over the long term by exercises and wearing a compression garment. Patient education (or parents of a child) is essential to improve observance.

SUBMITTER: Vignes S

PROVIDER: S-EPMC7789008 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Vignes Stéphane S Albuisson Juliette J Champion Laurence L Constans Joël J Tauveron Valérie V Malloizel Julie J Quéré Isabelle I Simon Laura L Arrault Maria M Trévidic Patrick P Azria Philippe P Maruani Annabel A

Orphanet journal of rare diseases 20210106 1

Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS), based on a critical literature review and multidisciplinary expert consensus, is to provide health professionals with an explanation of the optimal management and care of patients with primary lymphedema. This PNDS, written by consultants at the French National R ...[more]

PMID: 33407666

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Project description:BackgroundKennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations.ResultsThe initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcare professionals. The diagnosis should be suspected in an adult male presenting with slowly progressive lower motor neuron symptoms, typically affecting the lower limbs at onset. Bulbar involvement (dysarthria and dysphagia) is often a later manifestation of the disease. Gynecomastia is not a constant feature, but is suggestive of a suspected diagnosis, which is further supported by electromyography showing diffuse motor neuron involvement often with asymptomatic sensory changes. A suspected diagnosis is confirmed by genetic testing. The multidisciplinary assessment should ascertain extra-neurological involvement such as cardiac repolarisation abnormalities (Brugada syndrome), signs of androgen resistance, genitourinary abnormalities, endocrine and metabolic changes (glucose intolerance, hyperlipidemia). In the absence of effective disease modifying therapies, the mainstay of management is symptomatic support using rehabilitation strategies (physiotherapy and speech therapy). Nutritional evaluation by an expert dietician is essential, and enteral nutrition (gastrostomy) may be required. Respiratory management centres on the detection and treatment of bronchial obstructions, as well as screening for aspiration pneumonia (chest physiotherapy, drainage, positioning, breath stacking, mechanical insufflation-exsufflation, cough assist machnie, antibiotics). Non-invasive mechanical ventilation is seldom needed. Symptomatic pharmaceutical therapy includes pain management, endocrine and metabolic interventions. There is no evidence for androgen substitution therapy.ConclusionThe French national Kennedy's disease protocol provides management recommendations for patients with KD. In a low-incidence condition, sharing and integrating regional expertise, multidisciplinary experience and defining consensus best-practice recommendations is particularly important. Well-coordinated collaborative efforts will ultimately pave the way to the development of evidence-based international guidelines.

Project description:Introduction La maladie à coronavirus 2019 (COVID-19), due au SRAS-CoV-2, a été déclarée pandémie mondiale le 11 mars 2020. Concomitamment, de nombreux cas d’engelures ont été signalés et l’hypothèse selon laquelle ces lésions étaient liées à l’infection à Covid-19, en tant que forme pauci-symptomatique, a rapidement émergé. Matériel et méthodes Etude prospective monocentrique réalisée au CHU de Rouen durant la période de confinement. Tous les patients se présentant pour des engelures étaient inclus. Un bilan biologique standard, immunologique et une sérologie étaient réalisés chez tous les patients à J0 et J14. Les patients présentant des lésions jugées particulièrement sévères bénéficiaient de biopsies cutanées pour histologie standard, IFD, IFI utilisant un sérum de patient contenant des Ac anti-SARS-CoV-2 et RT-PCR SARS-CoV-2. Résultats Trent trois patients (14 femmes, 19 hommes) d’âge moyen 23,4 ± 8,7 ans étaient inclus. Tous présentaient des papules érythémateuses et purpuriques localisées sur les orteils ± doigts (12 patients, 36,4 %). Le délai médian entre l’apparition des symptômes et la première consultation était de 8 jours (IQR 6,5–18 jours). Les engelures étaient la seule manifestation clinique dans 23 cas (69,7 %) ; dix patients (30,3 %) ont présenté d’autres symptômes : asthénie (n = 4), toux (n = 3), diarrhée (n = 3), fièvre (n = 2), myalgies (n = 2), céphalées (n = 1) et odynophagie (n = 1). Trois patients récemment testés avaient un résultat négatif en RT-PCR sinusale. La biologie était normale chez 26 patients. Une lymphopénie légère (moyenne de 1,15 ± 0,21 G/L) était observée chez 7 patients. La CRP et la VS étaient normales chez tous. Deux patients avaient des FAN positifs et trois patients avaient une cryoglobulinémie de type III. La biopsie réalisée chez 5 patients montrait un infiltrat lymphocytaire dermique superficiel autour des vaisseaux et des glandes eccrines dans tous les cas. L’IFD montrait des dépôts de fibrinogène et de C3 sur les cellules endothéliales dans tous les cas. L’IFI et la RT-PCR sur peau lésionnelle étaient négatives. La sérologie ALBIA-Spike S1 était négative en IgG pour les 33 sérums à J0 et J14, tandis que 1/33 était positif en IgM à J0 et J14. Aucune séroconversion n’était observée (Figure 2). Nos résultats étaient confirmés par la sérologie Abbott® SARS-CoV-2 IgG réalisé sur les sérums du 14e jour, sans séropositivité décelable. Discussion Les données actuelles ne permettent pas d’affirmer qu’il existe un lien entre ces engelures et l’infection par le SARS-CoV-2. Les caractéristiques cliniques et histologiques étaient celles des engelures idiopathiques. Les RT-PCR et IFI sur peau lésionnelle étaient négatives. Par 2 techniques sérologiques différentes et à 2 temps différents, un seul sérum contenait des IgM (3 %), correspondant au taux d’infection par le SRAS-CoV-2 dans la population française.

Project description:ObjectiveA substantial proportion of severely ill patients with obsessive-compulsive disorder (OCD) do not respond to serotonin reuptake inhibitors (SRIs) and are unable to practice cognitive behavioral therapy (CBT) on an out-patient basis. We report the short-term (at discharge) and long-term (up to 2 years) outcome of a multimodal inpatient treatment program that included therapist-assisted intensive CBT with adjunctive pharmacotherapy for severely ill OCD patients who are often resistant to SRIs and are either unresponsive or unable to practice outpatient CBT.MethodsA total of 420 patients, admitted between January 2012 and December 2017 were eligible for the analysis. They were evaluated using the Mini International Neuropsychiatric Interview, the Yale-Brown Obsessive Compulsive Scale (YBOCS), and the Clinical Global Impression (CGI) scale. All patients received 4 to 5 therapist-assisted CBT sessions per week along with standard pharmacotherapy. Naturalistic follow-up information at 3, 6, 12, and 24 months were recorded.ResultsAt baseline, patients were mostly severely ill (YBOCS = 29.9 ± 4.5) and nonresponsive to ≥2 SRIs (83%). Mean duration of inpatient stay was 42.7 ± 25.3 days. At discharge, there was a significant decline in the mean YBOCS score (29.9 ± 4.5 vs. 18.1 ± 7.7, P < .001, Cohen's d = 1.64); 211/420 (50%) were responders (≥35% YBOCS reduction and CGI-I≤2) and an additional 86/420 (21%) were partial responders (25% to 35% YBOCS reduction and CGI-I≤3). Using latent class growth modeling of the follow-up data, 4 distinct classes were identified, which include "remitters" (14.5%), "responders" (36.5%), "minimal responders" (34.7%), and "nonresponders" (14.6%). Shorter duration of illness, better insight, and lesser contamination/washing symptoms predicted better response in both short- and long-term follow-up.ConclusionIntensive, inpatient-based care for OCD may be an effective option for patients with severe OCD and should be considered routinely in those who do not respond with outpatient treatment.

Dataset Information

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Publications

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

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