The St George's Classification Algorithm of Primary Lymphatic Anomalies

Gordon, Kristiana; Mortimer, Peter; Zanten, Malou van; Jeffery, Steve; Østergaard, Pia; Mansour, Sahar

doi:10.1089/lrb.2020.0104

Cited by 18 publications

(15 citation statements)

References 10 publications

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“…Algorithms have been developed and published to assist clinicians in phenotyping and directing genetic analysis. 8,30,36,37 Genetic testing is not only useful in diagnosing PL, but also in SL. Underlying genetic and epigenetic predispositions that lead to increased risk of developing SL after treatments, injuring the lymphatic system, have been described.…”

Section: Geneticsmentioning

confidence: 99%

“…For example, patients who present to the pediatric hematology/oncology clinic with abnormalities on complete blood count and other features such as developmental delays, history of immunodeficiency with lymphedema should be considered for testing. Algorithms have been developed and published to assist clinicians in phenotyping and directing genetic analysis 8,30,36,37 . Genetic testing is not only useful in diagnosing PL, but also in SL.…”

Section: Geneticsmentioning

confidence: 99%

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How we approach lymphedema in the pediatric population

Pateva

Greene

Snyder

2022

Pediatric Blood & Cancer

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Lymphedema in children is rare; however, it is usually a progressive and chronic condition. Accurate diagnosis of lymphedema in the pediatric population often takes several months and sometimes is delayed for years. Lymphedema can be isolated or associated with genetic syndromes, thus it is very important to identify the correct diagnosis, to select carefully which patients to refer for genetic testing, and to initiate appropriate treatment in a timely fashion. In this article, we review key information about diagnosis of lymphedema, associated conditions and syndromes, and current treatment modalities.

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Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

How we approach lymphedema in the pediatric population

Pateva

Greene

Snyder

2022

Pediatric Blood & Cancer

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“…The St George’s Classification of lymphedema distinguish 5 subgroups of primary lymphedema: lymphedema associated with genetic syndromes, lymphedema associated with systemic or internal lymphatic problems, lymphedema associated with vascular anomalies or segmental overgrowth (where the lymphedema is not the predominant problem) and isolated congenital (occurring before 1 year of age) or non-congenital lymphedema. 1…”

Section: Introductionmentioning

confidence: 99%

Pediatric Lymphedema: Study of 180 Patients Referred to a Tertiary Lymphedema Clinic

et al. 2022

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Background Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life. Methods Medical records of patients under 18 years of age referred between 1996 and 2021 to the specialized lymphedema clinic at the Sainte-Justine University Hospital Center were reviewed. Demographic data, sex, age at presentation, location of the lymphedema, clinical features, genetic testing, symptoms, complications, investigations, and treatment were collected. Results Of 180 referred patients, lymphedema was confirmed in 151, and 137 were primary lymphedema. Median age of apparition of primary lymphedema was 7.00 years and was significantly lower in boys than in girls. Primary congenital lymphedema was more frequent in boys (51.0%, 27.3% in girls, P = .007), and onset of primary lymphedema during adolescence was more frequent in girls (53.4%, 25.0% in boys, P = .001). Lower limbs were the most impacted (88.3%). Sixty patients had genetic testing, and 38 (63.3%) of them were discovered to have a pertinent genetic mutation. The most common mutated gene was the FLT4 gene (in 9 patients). Seven patients (5.1%) had associated extensive/central lymphatic malformation and 24 (17.6%) had a polymalformative syndrome/syndromic lymphedema. Conclusions Pediatric lymphedema is more frequent in girls, usually involves lower limb, and is most often sporadic, but often associated with a genetic mutation, and genetic testing should be performed.

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“…Lymphoedema of the lower limbs and with late onset is called ‘Meige disease’ with an unknown molecular origin until today. 3 Lymphoedema with limb overgrowth has been described as Klippel–Trenaunay syndrome when presenting with capillary-venous and sometimes lymphatic malformation and as Parkes–Weber syndrome when being associated with arteriovenous malformation. 4 Moreover, there are rare single gene defects that are specifically associated with lymphatic malformation.…”

Section: Introductionmentioning

confidence: 99%

A case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis

Westphal

Bergmann

Martens

et al. 2021

European Heart Journal - Case Reports

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Background Most cases of lymphoedema are secondary to other causes, while cases of primary lymphoedema, in particular that of congenital origin, are uncommon. Limited genetic disorders are so far known to be associated with lymphatic malformation including mutations in RASA1. This clinical case highlights the possible complications of RASA1-associated lymphatic malformation in a female suffering from recurrent life-threatening septic lymphangitis. Case summary A 23-year-old female patient presented with congenital lymphoedema of the lower right extremity. At the age of eight, she first suffered from an episode of lymphangitis. Thereafter, she developed recurrent episodes of lymphangitis predominately occurring during menstruation and culminating into severe and life-threatening septicaemias. Due to the menstrual association, endometriosis was suspected but could not be confirmed. Furthermore, angiography could not detect any sign of arteriovenous fistula. Single-Photon-Emission-Computed-Tomography confirmed absent major lymphatics of the right leg with severely impaired and prolonged dermal lymphatic backflow. Genetic testing identified a disease-causing variant in the RASA1 gene. Discussion To our knowledge, this is the first case of recurrent septic lymphangitis with close relation to menstruation in a female with RASA1-associated lymphatic malformation. Due to the possible de novo or somatic origin of a pathogenic variant, a genetic disease should be considered in spite of an unremarkable family history or a localized lymphoedema. Although there is no curative therapy available yet, the knowledge of the underlying genetic defect is important for interdisciplinary patient care and might be crucial for individual molecular therapies in the future.

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The St George's Classification Algorithm of Primary Lymphatic Anomalies

Cited by 18 publications

References 10 publications

How we approach lymphedema in the pediatric population

How we approach lymphedema in the pediatric population

Pediatric Lymphedema: Study of 180 Patients Referred to a Tertiary Lymphedema Clinic

A case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis

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