a Quebec based hospital
By Chantal Lapointe and Catherine McCuaig
Introduction
For the past four years our multi-disciplinary clinic has provided care to children and adolescents with lymphedema at the Sainte Justine University Hospital in Montreal. Our team includes a dermatologist who makes the diagnosis supported by images supplied by a radiologist and a nuclear image technician, a vascular anomalies nurse, an occupational therapist and a physiotherapist specializing in lymphedema who provide care.
Annually, more than 50 children and adolescents living with primary or secondary lymphedema are followed up with or receive care at the Lymphedema Clinic of Sainte Justine hospital, the only centre specialized in pediatric lymphedema in Quebec. To date, there is no cure for this condition. Treatment currently consists of alleviating symptoms associated with lymphedema. Medical understanding being still in its infancy, lymphedema treatments for children are based on the few available probative facts. As well, there is no clear reference framework
regarding physiotherapy treatments to offer children presenting with lymphedema. Thus children, adolescents and parents sometimes feel helpless and without resources.
Different types of pediatric lymphedema
Primary lymphedema results from a developmental anomaly of the lymphatic system, most often hypoplasia of the lymphatic vessels (Blein, Martin, Lorette, Vaillant, Baulieu, Maruani, 2010). It may be present at birth, may appear during childhood, adolescence or even later (Phillips et Gordon, 2014).
The malformed lymphatic vessels cause an accumulation of protein-rich liquid in the interstitial spaces and this accumulated liquid causes swelling (Greene, A.K, Slavin, S.A ., Brorson, H., 2015) most evident in the extremities and genital areas.
The first description of congenital lymphedema was by Milroy in 1891 followed in 1898 by Meige who described
Dr. Catherine C. McCuaig is a pediatric dermatologist at the University Hospital Center Sainte-Justine, University of Montreal, Quebec. She is part of the Hemangioma Investigator Group and the International Society for the Study of Vascular Anomolies (ISSVA), and currently a board member of the Canadian Lymphedema Framework.
Chantal Lapointe, BSc, PT, M.Réad, CTL(CS), ALT works at University Hospital Centre Sainte-Justine with pediatric clientele in different settings: , orthopedics, trauma, burn unit, oncology, rheumatology and lymphedema. In 2016 she graduated from the University of Sherbrooke with a masters focused on pediatric lymphedema.
lymphedema in adolescents. At that time scientific developments had made it possible to differentiate lymphedema from other types of systemic edema (International Lymphoedema Framework 2010).
The majority of pediatric lymphedema patients are affected by an isolated sporadic condition with an unknown genetic mutation. In 11% of children with pediatric lymphedema it can be associated with a syndrome (Greene et al., 2015). With a congenital absence of lymphatics, lymphedema is present at birth. It can develop later in cases where the lymphatics are more hypoplastic (Greene et al., 2015). The two most common types of pediatric lymphedema are Milroy’s disease and Meige disease/lymphedema.
Pediatric lymphedema presents with a genetic etiology in 36% of patients with a family history and in 8% of children with lymphedema de novo (Greene et al., 2015).
The recent discovery of genetic mutations associated with primary lymphedema permit us to hope that curative treatments may be developed in the future. See Table 1 for the different types of pediatric lymphedema and associated syndromes.
Characteristics of pediatric lymphedema
Pediatric lymphedema is distinct from that of adults in the following characteristics:
•it is usually primary rather than secondar y in origin
•it can affect more than one limb or region of the body
•pitting edema is not always present
•its management challenges are different
from those of an adult because of a child’s natural growth, mental understanding and collaboration in treatment
•the developmental changes experienced by a child with primary lymphedema must be assessed both physically and psychologically
•few therapists are specialized in treating children; according to the Australian Lymphology Association (ALA) in 2010, only 16% of lymphedema therapists treated children (Phillips et al., 2014).
Age of manifestation
The classification which ought to be used today to facilitate communication and research is that based on the different stages of development (Schook et al., 2011; Greene et al., 2015). Even if the lymphatic malformation in a pediatric lymphedema
TABLE 1
is present from birth, the manifestations often appear after infancy. The beginning of pediatric lymphedema does not necessarily coincide with the beginning of a poorly functioning lymphatic system. Its manifestation is influenced by the accumulation/stagnation of protein-rich lymphatic liquid that causes inflammation, and by the presence of hormones; thus often lymphedema appears later, at the time of puberty during hormonal changes. Many vascular malformations are exacerbated at puberty by hormonal changes, and it is not surprising that adolescence is a time at
Primary lymphedema and associated syndromes
Name
Milroy (congenital VEGFR3 Present at birth
Sources: Blein, et al. (2012, p. 748); Greene et al. (2015, p. 60); Damstra, Mortimer (2008, p. 278); Connell, Brice, Mansour, Mortimer (2013, p. 4). Motivate engagement in physical activity... Aqua lymphatic therapy, pool exercise or sport and motor-activity games.
which many cases of lymphedema present. Lymphedema in boys manifests more frequently during early childhood (68%), while in girls it develops more often during adolescence (55%) (Schook et al., 2011). The characteristics of pediatric lymphedema of an upper limb are different from those of a lower limb. Usually, a lower limb lymphedema can appear before age 15 or up to age 25. For an upper limb lymphedema, the age at manifestation is much later (Vignes et al., 2013).
Developing a reference framework
The overall objective of our project was to develop a reference framework based on existing best evidence in order to structure
Lower part of the leg, Large prominent veins in the primary lymphedema) single or bilateral legs/hydrocele
Lymphedema- FOXC2 At puberty (but sometimes Limbs
Associated with a distichiasis distichiasis at bir th or later) (second row of upper eyelashes)
Hennekam’s CCBE1 At birth or during infancy
Generalized Involves visceral organs, Syndrome lymphedema slows development, flattened face, ypertelorism, enlarged nasal bridge
Turner’s Syndrome XO
Noonan’s Syndrome PTPN11/SOS1
During infancy in 76% of cases, Frequently affects Large thoracic cage, nipples during childhood and adolescence all four limbs far apart, drooping eyelids in 19% of cases
Congenital, changeable
Peripheral regions Delayed growth, facial and regressive (hands/feet) dysmorphism, unruly hair, uler ythema ophryogenes cardiac, pulmonar y, genital or bony malformation
Klippel-Trenaunay PIK3Ca During infancy, childhood
Usually limited to one limb Bir th marks or wine stains Syndrome or adolescence but may present in several (malformation in the capillaries limbs and/or the head of the skin) hypertrophy of and trunk sof t tissue or bone, venous malformations, lymphatic anomalies
Meige No associated Adolescence
Lower limbs, arms, face, Yellow nails gene to date lar ynx
Age at which primary lymphedema appears
Developmental classification
Age of manifestation Definition Statistics
Infancy Bir th to 1 year 49.2% in infancy
Childhood Adolescence 1 – 9 years 9.5% during childhood 10 – 21 years 41.3% during adolescence
Adult >21 years 19% in adulthood
our physiotherapy interventions with children (pre-school group 0-4 years, 5-12 years group, and adolescents 13-18 years) presenting with lymphedema. Initially a review of the existing literature on the treatment of lymphedema in adults was undertaken from which it emerged that the majority of evidence dealt with lymphedema secondary to breast cancer (LSBC). Next a review of the literature on pediatric lymphedema was performed. Finally, to explore the feasibility of offering optimal care to those with pediatric lymphedema, questionnaires were prepared and distributed to experts, parents of a child living with lymphedema and to adolescents with lymphedema.The results of the literature survey on treatment of LSBC cancer suggest that decongestive lymphatic therapy (DLT) works in the management of LSBC. DLT includes: 1) manual lymphatic drainage, 2) compression, 3) skin care, 4) curative exercise. The key component is compression. The results of the literature survey on management of pediatric lymphedema suggest that there is no evidence that the means used to treat adults with lymphedema work with children. The analysis of the questionnaires distributed to the three participant groups (10 experts in pediatric lymphedema, 11 parents with a child with lymphedema between 0-12 years, and 9 adolescents aged 13-17 years) demonstrated that three modalities stood out as most frequently used: skin care, compression garments and exercises.
Conclusion
Until scientific evidence can recommend best practice guidelines for pediatric lymphedema management, its treatment is primarily
conservative and can include DLT—currently recognized as the standard treatment for LSBC. Compression should be encouraged for adolescents and for children who are walking. Garments seem to be the modality of compression most preferred by the pediatric population. Adjustable compression garments that employ Velcro fastenings may be a useful choice given the growth changes that children experience. Compression bandages are not very popular with the pediatric population but it is important to individualize each treatment. Skin care is a modality that is regularly used by all three groups surveyed (pre-school, school age and adolescent) and should continue to be encouraged as it helps in the prevention of fungal and bacterial infections including cellulitis and lessens the aggravation of the
condition among children and adolescents. A multi-disciplinar y team specialized in pediatric lymphedema should educate and inform parents and children/adolescents of scientific advances concerning possible treatments for pediatric lymphedema. Different modalities may be appropriate for different age groups. As well, it is essential to integrate the therapies into the daily life of the child/adolescent and to encourage her/him to participate in normal age-appropriate activities in order to foster optimal physical and psychological development. It is essential to motivate engagement in physical activity according to each individual’s preference by proposing many different types of activity such as aqua lymphatic therapy, pool exercise, an exercise program or sport and motor-activity games adapted to the motor development of children.
The best possible treatment to offer children/adolescents with lymphedema is one that is accepted by the parents and the child, rather than some strict ideal treatment to which they will not adhere. LP
Key messages
• Have a multidisciplinary team specialized in pediatrics to manage pediatric lymphedema.
• Educate parents, children/ adolescents and professionals.
• Promote individualized treatment depending on the age of children/ teenagers.
• Ensure that the treatments do not impede normal development of the child.
• Encourage the use of certain modalities: skin care, compression and exercise.
• Empower and raise the awareness of parents/adolescents.
• Strive for a community of practice.
A full set of references can be found online at www.lymphedemapathways.ca
Source: Greene et al. (2015, p. 61).