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52 Primary Lymphedema and Klippel-Trénaunay Syndrome
ANTERIORPOSTERIOR
c
d
429
Fig. 52.1 (continued)
430 B.-B. Lee et al.
e
f
g
Fig. 52.1 (continued)
Looking at primary lymphedema from a VM point of view, it is natural to have a
mixed condition with other CVMs because they are a group of various birth defects
after developmental arrest along any of peripheral vascular systems during the various stages of embryogenesis. It can therefore, affect more than one vascular system:
the capillary, arterial, venous, and/or lymphatic systems, producing a mixture of
various defects with different characteristics. These defects may occur as either an
extratruncular or truncular type of lesion.
16,17
The clinical significance of the two different embryological subtypes – extratruncular
and truncular – was thoroughly reviewed in Chap. 51. Its critical importance in the
clinical management of CVMs cannot be overemphasized.
52 Primary Lymphedema and Klippel-Trénaunay Syndrome
a
b
431
Fig. 52.2 Parkes–Weber Syndrome (PWS). (a) Clinical condition of the PWS involving the left
lower extremity. In addition to the VM, LM, and CM components like KTS, the AVM lesion was
confirmed as an additional vascular malformation component. Duplex ultrasound (b) displays high
flow condition along the femoropopliteal vein by AV shunting lesion along the knee area; the
lesion was subsequently confirmed as a micro-shunting AVM with the arteriography (shunting
percentage to 69% by transarterial lung perfusion to make scintigraphy (c)
432 B.-B. Lee et al.
Fig. 52.2 (continued)
Whenever lymphedema is caused by a truncular LM, the likelihood that another
type of LM (extratruncular LM), as well as a VM and CM, is also present increases,
producing the VM component of KTS.
Hence, clinical investigation and management of primary lymphedema as a part
of the KTS is required. This unique, complicated condition often involves two different embryological subtypes of LM as well as VM, making a total of four different
VMs.
There is significant variability in clinical presentation, ranging from a simple
condition of one LM and one VM subtypes to a complicated condition with all four
lesions: extratruncular LM and truncular LM, and extratruncular VM and truncular
VM, in addition to the CM.
Capillary malformation,9 also known as a port wine stain, has a unique distinction that whenever it is present, another CVM is always present. Depending on its
location (e.g., the face), it may be present with a serious intracranial lesion (e.g.,
Sturge–Weber syndrome18). In addition, CMs are well known to be associated with
more frequent wound complications after surgical treatment of other coexisting
CVMs (e.g., keloid formation).
The CM lesion itself has limited clinical significance in general and often presents as a cosmetic problem alone, where its management is relatively straight
52 Primary Lymphedema and Klippel-Trénaunay Syndrome
Table 52.1 Hamburg classification of congenital vascular malformation (CVM), modified
Main classification based on its predominant vascular component:
• Predominantly arterial defects
• Predominantly venous defects
• Predominantly AV (arteriovenous) shunting defects
• Predominantly lymphatic defects
• Predominantly capillary malformation
• Combined vascular defects
Subclassification based on the embryological stage of the defect:
• Extratruncular forms – developmental arrest at the earlier stages of embryonal life:
– Diffuse, infiltrating
– Limited, localized
• Truncular forms – developmental arrest at the later stages of embryonal life:
– Obstruction
° Hypoplasia; aplasia; hyperplasia
° Stenosis; membrane; congenital spur
– Dilatation
° Localized (aneurysm)
° Diffuse (ectasia)
Both extratruncular and truncular forms may exist together in the same vascular malformation, and
may be combined with other various malformations (e.g., capillary, arterial, AV shunting, venous,
hemolymphatic, and/or lymphatic). Based on the consensus on the CVM classification through the
international workshop in Hamburg, Germany, 1988, which was upheld by the subsequently
founded ISSVA (International Society for Vascular Anomaly).
433
forward with the laser-based therapy, and therefore, this chapter will be limited to
the combined VM and LM.
The other two vascular components of KTS, VM and LM, typically present as a
clinically complicated condition due to the interwinding of the four different components and subtypes: extratruncular VM, truncular VM, extratruncular LM, and
truncular LM, presenting in various combinations and locations with differing
severity and extent. Fortunately, the majority of KTS patients do not all have four
different subtypes of LM and VM. More frequently encountered is a single type of
VM presenting with a single type of LM.
With regard to the VM component of KTS, the extratruncular VM is relatively
rare. In contrast, the truncular VM is more common (e.g., marginal or lateral embryonic vein). The marginal vein has direct and indirect effects on an already dysfunctional lymphatic system caused by LM lesion(s). The marginal vein does not have
any venous valves resulting in venous reflux and chronic venous insufficiency.
Furthermore, these KTS patients often have a poorly developed, uncompensated
deep venous system.
19,20
Similar to the VM component of KTS, the LM component is often a truncular
LM as a cause of primary lymphedema. The extratruncular LM, better known as a
“cavernous or cystic lymphangioma”, is occasionally found in KTS patients, presenting either alone or combined with a truncular LM (primary lymphedema), and
makes the clinical management more complicated.
434 B.-B. Lee et al.
Table 52.2 Laboratory diagnosis – primary pathological features of KTS
I. Non- to less-invasive study – basic (standard)
• T1- and T2-weighted MR image study
• Duplex ultrasound
• Whole-body blood pool scintigraphy (WBBPS)
• Radionuclide lymphoscintigraphy
II. Non- to less-invasive study – optional
• Transarterial lung perfusion scintigraphy (TLPS)
• MR venography and/or arteriography
• Ultrasound and/or MR lymphangiography
• CT
III. Selective invasive study
• Ascending and/or segmental venography
• Standard and/or selective arteriography
• Percutaneous direct puncture phlebography
• Percutaneous direct puncture lymphangiography
The diagnosis of KTS, therefore, should begin with the clinical evaluation of its
primary etiology and determination of the different vascular malformation components that are present.
21,22
Proper assessment and evaluation of the direct and indirect secondary effects of the
primary pathological condition (HLM) on the various organ systems should include:
Gastrointestinal system (e.g., GI bleeding, chylo-ascites, malabsorption syndrome)•
Cardiopulmonary system (e.g., pleural effusion, chylothorax)•
Musculoskeletal system (e.g., long bone length discrepancy, scoliosis, pelvic tilt)•
Genito-urinary system (e.g., lymph leak: chyluria, chylorrhagia).•
Hence, the diagnostic tests for KTS are aimed at characterizing all four vascular
malformation components (Table 52.2). Diagnostic testing of the truncular LM is
limited to radionuclide lymphoscintigraphy, which was discussed in Sect. V and
Chap. 51.
For management of primary lymphedema in KTS, precise assessment of the
extent and severity of each VM and LM lesion should follow proper identification
of each CVM component of the KTS. Following identification and assessment of
each CVM component of KTS, treatment priority should be determined by the relative clinical significance of the VM and LM lesions.
The VM lesion is usually the more clinically significant lesion in KTS patients,
except in cases of lymph leakage and sepsis due to a LM lesion. VM lesions have
more serious hemodynamic effects directly on the venous system and indirectly on
the lymphatic system.
16,23
Treatment of the VM lesion usually proceeds first, fol-
lowed by treatment of the LM lesion.
An aggressive approach to the marginal vein utilizing a one-stage resection in a
KTS patient will lead to an acute increase in deep venous flow following excision of
the marginal vein. A KTS patient with a normal deep venous system can easily
accommodate the acute increase in deep venous flow. In contrast, a KTS patient
52 Primary Lymphedema and Klippel-Trénaunay Syndrome
435
with hypoplasia of the deep venous system has limited capacity and cannot
accommodate the acute increase in deep venous flow. As a consequence, resection
of the marginal vein in the presence of a hypoplastic deep venous system often
results in acute venous hypertension and secondary lymphatic hypertension.
When an extratruncular VM lesion occurs with a truncular VM lesion, the
extratruncular lesion (often an infiltrating lesion) should be treated first in order to
reduce its hemodynamic effects on the deep venous system, before treating the truncular VM. In addition, follow-up after treatment is required to monitor for lesion
recurrence. Extratruncular VM lesions are derived from embryonic tissue from an
early stage of embryogenesis, and exhibit mesenchymal cell characteristics, including the ability to proliferate when stimulated.
24,25
Primary lymphedema due to a truncular LM in KTS is generally resistant to
complex decongestive therapy (CDT) alone, compared with primary lymphedema
in patients without KTS. Treatment of the VM lesion in KTS patients is especially
important and almost always required in addition to CDT for management of
lymphedema.
26,27
The extratruncular LM is easily affected by the treatment of VM as mentioned
above. Treatment of the extratruncular LM often exacerbates overall lymphatic dysfunction with an increased burden to the lymph transport system.
If an extratruncular LM is present with an extratruncular VM, both lesions should
be treated together. In the unique situation where all four different subtypes of LM
and VM are present in the KTS patient, extreme precaution should be exercised in
order to minimize this unwanted imbalance between the venodynamics and lymphodynamics. Appropriate preparation to prevent or minimize anticipated complications and morbidity should be undertaken prior to initiating therapy.
References
1. Lee BB, Villavicencio JL. Primary lymphedema and lymphatic malformation: Are they the
two sides of the same coin? Eur J Vasc Endovasc Surg. 2010;39:646-653.
2. Lee BB, Andrade M, Bergan J, et al. Diagnosis and treatment of primary lymphedema: con-
sensus document of the International Union of Phlebology (IUP)-2009. Int Angiol.
2010;29(5):454-470.
3. Klippel M, Trenaunay J. Du noevus variqueux et osteohypertrophique. Arch Gén Méd. 1900;3:
641-672.
4. Servelle M. Klippel and Trenaunay’s syndrome. Ann Surg. 1985;201:365-373.
5. Lee BB, Do YS, Byun HS, Choo IW, Kim DI, Huh SH. Advanced management of venous mal-
formation (VM) with ethanol sclerotherapy: mid-term results. J Vasc Surg. 2003;37(3):533-538.
6. Lee BB, Bergan J, Gloviczki P, et al. Diagnosis and treatment of venous malformations –
consensus document of the International Union of Phlebology (IUP)-2009. Int Angiol.
2009;28(6):434-451.
7. Lee BB, Kim YW, Seo JM, et al. Current concepts in lymphatic malformation (LM). Vasc
Endovasc Surg. 2005;39(1):67-81.
8. Lee BB, Laredo J, Seo JM, Neville R. Hemangiomas and vascular malformations. In: Mattassi
R, Loose DA, Vaghi M, eds. Treatment of Lymphatic Malformations. Milan: Springer; 2009:
231-250, chap. 29.
436 B.-B. Lee et al.
9. Berwald C, Salazard B, Bardot J, Casanova D, Magalon G. Port wine stains or capillary malfor-
mations: surgical treatment. Ann Chir Plast Esthét. 2006;51(4–5):369-372. Epub 2006 Sep 26.
10. Lee BB, Villavicencio L. General considerations. Congenital vascular malformations.
Arteriovenous anomalies (Sect 9). In: Cronenwett JL, Johnston KW, eds. Rutherford’s Vascular
Surgery. 7th ed. Philadelphia: Saunders Elsevier; 2010: 1046-1064, chap. 68.
11. Lee BB, Laredo J, Neville R. Arterio-venous malformation: How much do we know?
Phlebology. 2009;24:193-200.
12. Lee BB, Laredo J, Lee TS, Huh S, Neville R. Terminology and classification of congenital
vascular malformations. Phlebology. 2007;22(6):249-252.
13. St B. Classification of congenital vascular defects. Int Angiol. 1990;9:141-146.
14. Gloviczki P, Driscoll DJ. Klippel–Trenaunay syndrome: current management. Phlebology.
2007;22:291-298.
15. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-
Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73(1):28-36.
16. Lee BB. Critical issues on the management of congenital vascular malformation. Ann Vasc
Surg. 2004;18(3):380-392.
17. Lee BB. Lymphedema-angiodysplasia syndrome: a prodigal form of lymphatic malformation
(LM). Phlebolymphology. 2005;47:324-332.
18. Moore GJ, Slovis TL, Chugani HT. Proton magnetic resonance spectroscopy in children with
Sturge-Weber syndrome. J Child Neurol. 1998;13(7):332-335.
19. Kim YW, Lee BB, Cho JH, Do YS, Kim DI, Kim ES. Haemodynamic and clinical assessment
of lateral marginal vein excision in patients with a predominantly venous malformation of the
lower extremity. Eur J Vasc Endovasc Surg. 2007;33(1):122-127.
20. Mattassi R, Vaghi M. Vascular bone syndrome-angi-osteodystrophy: current concept. Phlebology.
2007;22:287-290.
21. Lee BB. Lymphatic malformation. In: Tredbar LL, Morgan CL, Lee BB, Simonian SJ, Blondeau B,
eds. Lymphedema—Diagnosis and Treatment. London: Springer; 2008:31-42, chap. 4.
22. Lee BB, Laredo J, Lee SJ, Huh SH, Joe JH, Neville R. Congenital vascular malformations:
general diagnostic principles. Phlebology. 2007;22(6):253-257.
23. Lee BB, Bergan JJ. Advanced management of congenital vascular malformations: a multidis-
ciplinary approach. Cardiovasc Surg. 2002;10(6):523-533.
24. Lee BB, Laredo J, Kim YW, Neville R. Congenital vascular malformations: general treatment
principles. Phlebology. 2007;22(6):258-263.
25. Lee BB. Changing concept on vascular malformation: no longer enigma. Ann Vasc Dis.
2008;1(1):11-19.
26. Lee BB, Kim DI, Whang JH, Lee KW. Contemporary management of chronic lymphedema –
personal experiences. Lymphology. 2002;35(Suppl):450-455.
27. Lee BB. Current issue in management of chronic lymphedema: personal reflection on an expe-
rience with 1065 patients. Lymphology. 2005;38:28.
Chapter 53
Special Issues in Pediatric Primary
Lymphedema
Cristobal Miguel Papendieck
Definition and Classification
Primary lymphedema in the pediatric group has a special position among the
congenital vascular malformation (CVM), because the majority represent a clinical
manifestation of the “truncular” type of lymphatic malformation (LM; Figs. 53.1
and 53.2).
Fig. 53.1 Bilateral primary
lymphedema
C.M. Papendieck
Angiopediatria, Buenos Aires, Argentina
B.-B. Lee et al. (eds.), Lymphedema,
DOI 10.1007/978-0-85729-567-5_53, © Springer-Verlag London Limited 2011
437
438 C.M. Papendieck
Fig. 53.2 Unilateral primary
lymphedema with
lymphangiomatosis
Therefore, proper understanding of the mechanism of the formation of the lymphatic system is essential; the right interpretation of the primary/congenital lymphedema is warranted, because this condition is one of the results of the cellular
work led by the endothel of the initial lymphatics.
The lymph originates in the interstitial space following the intercellular and transcellular process; it is characterized by at least +0.9 g% of proteins that can be
incorporated into the flow only through the cannalicular system of the lymphatics.
A defect in this system would result in interstitial stagnation of the fluids, and
would manifest clinically as an edema, the condition known as lymphedema.2 At the
beginning, lymphedema is soft, dry, and without abnormalities in temperature and
color.
The increase in the volume along the compromised body segment initially
accompanies the increase in density and interstitial pressure, which is usually painless, if not inflammatory. However, its worst expression is the consequence of the
intracellular accumulation/edema resulting in the condition hydrops.
3
There is no pathognomic sign for primary lymphedema per se, but there are two
findings/signs that are well accepted as clinical signs of the primary lymphedema
4
among the pediatric group. However, the Stemmer sign
is always positive, whereas
pitting edema is not always positive in the Fovea or Godet test (Figs. 53.3
and 53.4).
1