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53 Special Issues in Pediatric Primary Lymphedema
Fig. 53.3 Primary lymphedema
with Stemmer sign
439
Fig. 53.4 Primary lymphedema with
a positive pitting test (Fovea)
440 C.M. Papendieck
However, both signs are nonspecific and present in other edematous conditions.
The Stemmer sign is also constant in segmentary corporeal hypertrophies, lipedemas, and lipodysplasias, and the pitting edema reflects an acute clinical appearance
of a primary lymphedema or an inflammatory process.
The first segment of the lymphatic system is the initial lymphatics, which is lined
with “endothelial” cells5 without a basal membrane. Its functional failure generates
“interstitial” dysfunction to cause canalicular lymphatic hypertension.
From the post interstitial level (initial lymphatics) to the left thoracic duct draining site, blockage of the lymphatic transit may occur. This may be functional or
organic, with or without involvement of secondary components of the lymphatic
system, such as the lymph nodes or the lymphatic trunks (lymph node or truncular
angiodysplasias).
On the basis of this new concept/interpretation, primary lymphedema can be
further classified into three groups:
1. Primary lymphedema due to the interstitial lymphatic endothelial dysplasia and
dysfunction
2. Primary lymphedema due to lymphangiodysplasia and dysfunction
3. Primary lymphedema due to lymphadeno- or nodal dysplasia and dysfunction
It will result in various conditions of the defective lymphatic system from the
initial lymphatics to the lymphatic vessel and/or lymph nodes resulting in lymphangio dysplasias (LAD I) and lymphadenodysplasias (LAD II).
6-9
LAD I: hypoplasia, hyperplasia/ectasia, lymphangiomatosis, lymphangioleiomyomatosis, dysvalvulosis, avalvulosis, lymphangio-neurosis cause organic or
functional neurovegetative disturbance of the lymph vessels, and lymphangioma
LAD II: hypoplasia, global, central, and peripheral fibrosis, lymphangiomatosis,
nodal angiomatosis, hemangiomatosis, follicular or medullary hyperplasia
LAAD: LAD I + LAD II, combined lymph system dysplasias
Primary lymphedema (1ºL) due to interstitial dysfunction or hypoplasia of the
initial lymphatics, or both are now named as three different syndromes10 with proper
identification of specific gene mutations as the cause.
1. Milroy (Nonne–Milroy) disease: lymph capillary hypoplasia by defective
VEGFR-3
2. Lymphedema–distichiasis syndrome: FOXC2
3. The lymphedema–hypotrichosis–telangiectasia syndrome: SOX18
11
12
13
There are 41 syndromes with peripheral primary lymphedema, added to 85 syndromes with primary generalized lymphedema14:
1. Noonan syndrome
2. Turner syndrome
3. Yellow nail syndrome
4. Nevo syndrome
5. Aplasia cutis + 1ºL (Bronspiegel syndrome)
15
16
17
18
19
53 Special Issues in Pediatric Primary Lymphedema
441
6. Cholestasis + 1ºL (Aagenaes syndrome)
20
7. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
(PEHO) Syndrome
8. Cerebral arteriovenous malformation + 1ºL (Avasthey syndrome)
9. Cleft palate + 1ºL (Figueroa syndrome)
10. Hypoparathyroidism + 1ºL (Dahlberg syndrome)
11. Distichiasis + 1ºL syndrome
12. Microcephaly + 1ºL
21
22
23
24
25
26
These 12 syndromes are most frequently mentioned among many others.27 Such
syndromes are often detected among the newborns and month-old pediatric patients,
with primary lymphedema combined with various conditions: uni- or bilateral
Wilm’s tumor, unilateral suprarenal cysts, superficial and deep venous malformations, the Klippel–Trenaunay–Servelle syndrome,28 Klippel–Trenaunay–Weber and
F.P. Weber syndromes with micro and macro AV shunts, neurofibromatosis I and II,
and combined angiodysplastic syndromes.
Rarely, such a condition becomes more complicated with “the phantom bone
disease”: Gorham–Stout29 syndrome, Haferkamp syndrome,30 the Proteus syndrome
(tri-dermal and tri-systemic vascular dysplasia),31 lipodysplasias, lipoblastomatosis,32 exudative enteropathies, and chylus reflux syndromes.
The classification of primary lymphedema into three groups of congenital,
praecox, and tarda types33 is based on the age at first clinical manifestation, but they
all have similar dysplastic and or functional causes. Instead, primary lymphedema
can be graded based on its expression in grades (0–3)34; frequently grade 0 or 1 is
not recognized or is transitory among pediatric patients.
Diagnosis
Diagnostic evaluation of primary lymphedema in the pediatric group follows the
general principle, which is reviewed in detail in Sections IV and V. It would be
based on various imaging tests, including radioisotope lymphoscintigraphy to confirm its clinical diagnosis and/or intersticial Lymphography with MRI.
Although the genetic information would support the diagnosis, a certain condition of dysplasia and or dysfunction would need a biopsy of a nodal or lymph vessel
to establish a anatomopathological pattern.
Secondary lymphedema among the pediatric group is also fully reviewed through
Section IV - Clinical Diagnosis, and Section V - Laboratory/Imaging Diagnosis
together with primary lymphedema.
Depending on their cause, they can be presented as a localized, regional or systemic condition by a functional or mechanical blockage at one or multiple levels.
Various factors are known to provoke a normal lymph system resulting in damage and consequent dysfunction (e.g., parasites, trauma, chronic infection, venous
disorder, podoconiosis etc.).
35-39
442 C.M. Papendieck
Fig. 53.5 Congenital asymmetric 1º Lymphedema on the right hand in a Turner syndrome with
HGH treatment
Fig. 53.6 Congenital syndromatic asymmetric 1º Lymphedema on upper limbs after and during
physical treatment
Management
Detailed review of various issues for the management of primary lymphedema in the
pediatric group is included in Chaps. 8–12. However, the treatment regimen with
manual lymph drainage (MLD)-based complex decongestive physical therapy (CDP)
are all indicated for pediatric lymphedema, and the LF(Lymphedema Framework)
and ISL41 consensus documents remain a useful guideline (Figs. 53.5–53.7).
40
53 Special Issues in Pediatric Primary Lymphedema
Fig. 53.7 Congenital bilateral asymmetric 1º Lymphedema in a young girl on the feet with elastic
support, with bilateral syndactilia (II-III)
443
According to the Latin American Consensus,42 phlebotropic agents are beneficial
when primary lymphedema is associated with venous anomalies. In all primary
lymphedemas, a lymph node micro-biopsy is essential as well as a thorough phlebographic study, lymphochromy, and Doppler ultrasound to explore the possibility
of a lymphovenous anastomosis.
Various surgical options are possible, but are not easy in pediatric patients.
43-45
We, therefore, prefer the contralateral Palma techinique46 for the lower extremity so
as not to worsen the edema in the compromised side.
General Considerations
There are more than 250 million lymphedema patients throughout the world according to the WHO data and a third are of the pediatric age group.
The impact of this lifelong pathological condition on this pediatric group is much
greater than that on the adult patient group; the psychological, physical, and also
social impacts are much harder, not only for the affected child, but also for the
whole family in various respects.
444 C.M. Papendieck
However, the condition is manageable, with a remarkable response to multidisciplinary treatment, including specific conditions such as head, face and neck lymphedema, genital lymphedema, lymph leakage, etc.
The big difference from the adult patients with mostly secondary lymphedema is
that this condition among the children is a pathological condition for life; when the
child grows, it grows with this condition as well. Therefore, all therapy regimens
must be adjusted constantly, although new measurements incur much higher costs
(e.g., babies with bandages and elastic supports). Also, the increased risk of cancer
development cannot be ignored through this lifetime chronic illness.
Lack of social knowledge/interest in this disease often gives the wrong belief/
prejudice that it is a contagious if not hereditary condition, which should be eradicated to provide reasonable quality of life to the children through full integration into
school. This condition must be recognized as a part of mandatory social welfare.
Whenever possible, the children should be treated through a separate center and
not mix with the adult patients. The suffering of the adult patients often gives severe
psychological trauma to adolescent patients who are at a critical moment in their life
and psychologically most sensitive. Proper recognition of all these issues makes it
easier to assist pediatric patients in specialized centers.
47
Results of the treatments in this group are well achieved, thanks to the confluence of simple well-planned steps in diagnosis and therapies, depending on the etiology. Personal commitment and understanding of this unique group are elementary
for the proper management of this pediatric lymphedema.
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Part XII
Management of Chylous Reflux
