b"months or years. Hamartomatous or vascularvolume between affected and unaffected limbs. anomalies, especially cystic lymphatic malformation onGenerally, a 5% limb volume difference has athe dorsal side of the foot, may mimic lymphedema.91% sensitivity rate 58 .Ultrasound or magnetic resonance imaging (MRI) areBioimpedance spectroscopy (BIS) is a device required to confirm the diagnosis. used to measure the extracellular fluid volume andIn children, the main differential diagnoses are limbis marketed to be able to detect sub-clinical orhypertrophy, especially those entities attributable Stage 0 to 1 lymphedema sooner. to the segmental overgrowth syndromes caused byVisual examination is a critical part of diagnosis. somatic/mosaic phosphatidylinositol-4,5-bisphosphateObservation of the visibility of veins, tendons, and 3-kinase catalytic subunit alpha (PIK3CA)-genebony landmarks can indicate the presence of edema. mutations and called PIK3CA-related overgrowth spectrum (PROS)52. For the differential diagnosis Palpation of the tissue may reveal signs of edema, with primary lymphedema, PROS includes CLOVESincluding thickening of the tissue, firm, fibrotic, or syndrome (Congenital Lipomatous Overgrowth,pitting texture. Vascular malformations, Epidermal nevi, Skeletal and spinal anomalies), and KlippelTrenaunay syndromeStemmers sign is assessed on the dorsum(KTS). In this context, complementary investigationsof the hand or foot. A positive test result(e.g., MRI, cutaneous biopsy with genetic analyses) areoccurs when the skin is unable to be lifted required 53 . Germline pathogenic variants of the RASA1between the index and thumb.(rat sarcoma protein 21 (RAS P21) protein activator-1) gene and EPHB4 (ephrin type-B receptor 4) mayReported symptoms of secondary lymphedema present with arterio-venous malformations with aninclude heaviness, tightness, achiness, and numbness increased size of the affected limb and capillaryor tingling 2 .malformations (Parkes Weber syndrome) 54,55 . B. TREATMENT OPTIONSMore recently, somatic/mosaic variants of RASA1and KRAS (Kirsten rat-sarcoma viral oncogene) genesFOR LYMPHEDEMAhave also been shown to be implicated in ParkesLymphedema can be managed through a varietyWeber syndrome 56,57 . of different strategies and treatment modalities.Current Locations within the United States to The treatment options discussed will range from Obtain Clinical Genetic Testing: conservative management to increasingly more 1. The Seattle Childrens Hospital: VANseq invasive procedures, and touch on the effectivenessof additional specialty consultations. See Figure 6Vascular Anomalies Sequencing Panelfor a treatment framework which will be discussedhttps://seattlechildrenslab.testcatalog.org/in further detail in this section.show/LAB1920-12.LymphoedemaSt George's University CONSERVATIVE MANAGEMENT:Hospitals NHS Foundation TrustPRIMARY LYMPHEDEMA(stgeorges.nhs.uk) Author: Rebecca Prusinski, PT, DPT, WCS, CLT-LANA DIAGNOSIS OF SECONDARY(Rebecca Everetts)LYMPHEDEMA Treatment of lymphedema is accomplished withAuthor: Rebecca Prusinski, PT, DPT, WCS, CLT-LANAthe use of the gold standard approach, complete (Rebecca Everetts) decongestive therapy (CDT). CDT should only be completed by a certified lymphedema therapist,To date, there is no singular, well-defined, or generallywho may be a doctor, nurse, nurse practitioner, accepted form of diagnosis for this population. physical therapist, occupational therapist, or massage The current gold standard diagnostic criteria fortherapist. The first component of CDT is appropriate secondary lymphedema relies mostly on findingsskin care through daily washing, thorough drying,during a physical exam. The objective measuresand application of emollient-based moisturizers.utilized in the diagnosis of secondary lymphedemaThis step is paramount to ensuring good skin health include volumetric measurements, bioimpedanceand maintenance of an intact barrier. Depending on spectroscopy (BIS), and subjective questionnaires the patients needs, a decongestion phase may be to assess symptom severity and impact. required to properly reduce limb volume to a more Circumferential measurements are utilized to assessnormal size with the use of short stretch bandages. Multilayer compression bandaging uses a series of the severity of swelling. These measurements can beprotective cotton, foam, and in-elastic bandaging to calculated to total limb volume and differential | Standardized Approach for the Diagnosis and Management of Lymphedema (LE) and Lymphatic Diseases (LD)|17"