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Genetic considerat ions (see Table 1)
All primary lymphedema clinically manifesting as a truncular LM
with a macroscopic structural abnormality is the outcome of herita-
ble abnormal structural development [74]. Such inherited conditions
TABLE 1 Genetic disorders associated with primary lymphedema
Single gene disorders associated with primary lymphedema Chromosome/gene
Milroy disease VEGFR3
Milroy-like disease VEGFC
Late-onset 4 limb lymphedema GJC2
Lymphedema-distichiasis syndrome FOXC2
Syndromes associated with primary lymphedema
Aagenaes syndrome Not known
Cardiofaciocutaneous syndrome KRAS, BRAF,
MAP2K1,MAP2K2
CHARGE syndrome CDH7
Choanal atresia-lymphoedema PTPN14
Ectodermal dysplasia, anhidrotic, immunodeficiency,
osteopetrosis, and lymphoedema(OL-EDA-ID syndrome)
IKBKG (NEMO)
Fabry disease GLA
Hennekam syndrome (generalized lymphatic dysplasia) CCBE1
Hypotrichosis–lymphoedema–telangiectasia SOX18
Lymphoedema-myelodysplasia (Emberger syndrome) GATA2
Microcephaly with or without chorioretinopathy,
lymphoedema, and mental retardation (MCLMR)
KIF11
Noonan syndrome PTPN11, KRAS, SOS1
Chromosomal abnormalities associated with primary lymphedema
Turner syndrome 45,X0
Phelan-McDermid syndrome 22q Terminal deletion
Ring chromosome 22
Continued
115Genetic considerations
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are caused by the mutation of any of the genes involved in the lym-
phatic system development. FLT4 [59,64,75], FOXC2 [60–64], and
GJC2 [76,77] are the ones identified in a familial distribution of
primary lymphedema as representative genetic mutations.
Various genes have been found associated with this pattern of
inheritance with variable expression and age at onset [70,73,75]
All these forms of genetically determined lymphedema have the
lymphedema as primary phenotype as major clinical sign, and an
autosomal dominant pattern of inheritance has been also reported
among multigeneration families.
Milroy’s disease is one model for familial lymphedema caused by
an autosomal dominant single gene disorder inherited as a germline
mutation at the locus on distal chromosome 5q35.3. This disease rep-
resents one subgroup of congenital lymphedema with clinically evi-
dent lymphedema at birth (more often among females), lower
extremities, and single leg involved. In this condition, FLT4 is the
gene that is mutated, which encodes for the vascular endothelial
growth factor receptor 3 (VEGFR-3) receptor [73,75,78] Various
TABLE 1 Genetic disorders associated with primary lymphedema—cont’d
Single gene disorders associated with primary lymphedema Chromosome/gene
Prader-Willi syndrome 15q11 Microdeletion
Or maternal UPD 15
Velocardiofacial syndrome 22q11 Microdeletion
Lymphatic abnormalities associated with a mosaic genetic defect
Proteus syndrome AKT1
Klippel-Trenaunay syndrome
CLOVE/Fibroadipose hyperplasia AKT pathway
Macrocephaly-capillary-malformation (MCM) AKT pathway
(PIK3CA)
Primary lymphedema with unknown etiology but likely to be genetic
Meige disease
Multisegmental lymphatic dysplasia with systemic
involvement
From Lee BB, Andrade M, Antignani PL, Boccardo F, Bunke N, Campisi C, Damstra R, Flour M,
Forner-Cordero J, Gloviczki P, Laredo J, Partsch H, Piller N, Michelini S, Mortimer P, Rabe E, Rockson S,
Scuderi A, Szolnoky G, Villavicencio JL. Diagnosis and treatment of primary lymphedema. Consensus
Document of the International Union of Phlebology (IUP)-2013. Int Angiol 2013;32(6):541–574.
116 6. Defective development of the peripheral lymphatic system
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mutations in the VEGFR-3 gene have been further identified con-
firming the underlying etiology of this disease [79,80]. (Further
detailed descriptions in regard to the role of VEGFR-3 is given in
Chapter 2.) Milroy’s disease is also known as hereditary lymph-
edema type 1A representing the group of “early” onset lymph-
edema. Milroy’s disease is an autosomal dominant condition
caused by a mutation in the gene FLT4 associated, which is encoded
to VEGFR-3 gene located on the long arm (q) on chromosome 5
(5q35.3).
In contrast to Milroy’s disease, Meige disease, also known as
hereditary lymphedema type II, represents the majority of primary
lymphedema (60%–80%) with onset at ages 1–35, most often around
the time of puberty. Meige disease is frequently associated with sev-
eral other anomalies including yellow nails, distichiasis, vertebral
anomalies, extradural cysts, cerebrovascular malformation, and
sensorineural hearing loss [81] Meige disease is also an autosomal
dominant disease, linked to the mutations of FOXC2 gene, which
is located on the long arm of chromosome 16 (16q24.3). Absence
of FOXC2 leads to the failure of lymphatic valves formation and
lymphatic remodeling; a number of mutations in the FOXC2 gene
have been associated with lymphedema-distichiasis syndrome
[82,83]. Lymphedema–distichiasis syndrome is a subset of lymph-
edema praecox, genetically linked to the FOXC2 gene involved in
diverse developmental pathways [84,85]; this disease is a rare auto-
somal dominant disease to cause swollen limbs and double rows of
eyelashes [86] FOXC2-deficient mice display lymphatic dysfunction
as the results of abnormal mural cell coverage on lymphatic capil-
laries, defective valves of the collecting lymphatic vessels, and irreg-
ular lymphatic patterning [87].
Hypotrichosis–lymphedema–telangiectasia syndrome is another
subset of lymphedema praecox associated with hypotrichosis and
telangiectasia [88]; the mutations of SOX18, which acts upstream
of PROX1, is responsible for both recessive and dominant forms
of this disease [89,90].
Two more genes (GJC2 and CCBE1) were recently identified to
cause lymphedema. The mutations in the protein encoded in GJC2
gene cause impaired gap junction activities resulting in defective
lymphatic flow [74], while the mutations in CCBE1 that plays a role
in lymphatic sprouting during zebrafish development were found
in Hennekams’ lymphangiectasia-lymphedema syndrome [91,92].
117Genetic considerations
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The group of primary lymphedema with onset after the age of 35,
also known as lymphedema tarda, is considered as the third hered-
itary lymphedema. However, the majority of primary lymphedema
belongs to “sporadic” type, and the “hereditary” type is quite rare
although both have a genetic basis. Nevertheless, all the truncular
LMs are present at birth by definition although postnatal oblitera-
tions of lymph collectors and lymph nodes mimic congenital/prena-
tal pathology.
LM patients belonging to several congenital lymphatic disorders
such as Down syndrome, Turner syndrome, and Noonan syndrome
should receive genetic counseling to become parents, including
cytogenetic analysis for chromosomal aneuploidy because aneu-
ploidic conditions can recur in subsequent pregnancies [93–96].
Therefore, correct understanding of the pathophysiology of primary
lymphedema as the outcome of defective lymphatic system devel-
opment is mandated for proper definition on the normal anatomy
and physiology of the lymphatic system.
Management
However, lymphedema is manageable, with a remarkable
response to multidisciplinary treatment, including specific condi-
tions such as head, face and neck lymphedema, genital lymph-
edema, and lymph leakage. Most patients presenting with
lymphedema in adulthood are diagnosed with secondary lymph-
edema, even without a clear underlying cause. It is likely that many
of these patients will have an underlying genetically determined
primary lymphatic abnormality that the clinician has not consid-
ered. The identification of the molecular abnormality for each sub-
type of primary lymphedema is crucial because it advances the
understanding of the underlying mechanism of the disease. The
identification of the genetic causes of primary lymphedema pro-
vides a molecular diagnostic test for some subtypes. Patients and
families benefit hugely from a molecular diagnosis because it allows
the clinician to confidently predict the clinical prognosis and offer
screening for family members [97].
118 6. Defective development of the peripheral lymphatic system
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