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Chapter 16
Differential Diagnosis – General
Considerations
Neil B. Piller
Introduction
To gain an accurate differential diagnosis of a limb in a presenting patient, a parallel
medical and lymphedema assessment should be made. There are strong benefits
when the assessment/diagnosis of lymphedema is able to be established early
because, currently, noninvasive bio-impedance-spectroscopy (BIS) can detect lymphedema in its “subclinical” form (International Society of Lymphology “stage 0”),
enabling earlier targeted treatment and better outcomes.
Bio-impedance spectroscopy can also be used in the differential diagnosis of
lymphedemas from myxedemas and lipedemas, but it has not yet shown to be able
to separate primary from secondary lymphedemas, or lymphedemas from conditions exhibiting fluid changes, such as phlebedema or phlebolymphedema. Details
of BIS will be presented later in this book.
This guiding chapter is intended to generate confidence in treatment selection
and direction derived from an early, accurate, and differential diagnosis. It is based
around a scenario of a patient who presents with a swollen limb (either in whole or
in part) subsequent to surgery and radiotherapy as part of treatment for cancer, and
on the frequently mistaken assumption that the swelling is lymphedema.
There are many etiologies for a swollen limb, and exploring these is crucial, not
only from the point of view of an accurate diagnosis, but also because these etiologies often require differing targeting, treatment sequencing, and treatments. From
the patient’s perspective, knowing that the swelling is not lymphedema, and is not
likely to lead to it, can provide significant relief from the fear of this manifestation
as a potential sign of the return of the cancer and from the fear that the swelling may
persist for life.
N.B. Piller
Lymphoedema Assessment Clinic, Department of Surgery, School of Medicine,
Flinders University and Medical Centre, Bedford Park, SA, Australia
B.-B. Lee et al. (eds.), Lymphedema,
DOI 10.1007/978-0-85729-567-5_16, © Springer-Verlag London Limited 2011
119
120 N.B. Piller
For those without lymphedema, but for whom the risk is present, the onset of
clinically overt lymphedema is likely to be preventable through this recognition,
with a targeted treatment response to the early signs, through education and through
some relatively simple management options. It is in this early detection and screening that the general practitioner and specialist have an important role to play.
For those who present with a swollen limb, the first task is to determine the reason for the swelling, and to determine whether it is associated with a failure of the
lymphatic system or is due to some other underlying problem. Once the lymphatic
factors are determined, the next step is to explore if there are likely to be underlying
primary malformations or secondary change and then to target treatment and management, all of which is dealt with in detail in later chapters.
Differential Diagnosis: Other Reasons for a Swollen Limb
The first part of the assessment should be a medical one, with the aim of excluding
other causes of swelling before the nature of the lymphedema is explored.
1
When a patient presents with a swollen arm, then it is likely to be lymphedema
unless there are issues of axillary venous stenosis or vascular entrapment in scar
tissue, both of which are straightforward to determine. However, there can be many
reasons for a patient’s presentation with a swollen leg. Ideally, these should be identified and an attempt made to treat or manage them prior to dealing with the lymphatic problems, particularly when they may be having an impact on the load upon
a compromised lymphatic system.
2
Edema can reflect generalized (but sometimes regional) accumulation of vascular pericapillary fluids associated with increased intracapillary pressure within the
lower extremities, due to a dysfunctional lymphatic system caused by chronic
venous insufficiency. Edema is associated with acute DVT, post-thrombotic syndrome, arthritis, Baker’s cyst for unilateral swellings, and congestive heart failure,
chronic venous insufficiency (CVI), stasis edema, renal or hepatic dysfunction,
hypoproteinemia, hypothyroidism, medication-induced edemas and lipedemas for
bilateral swellings.
Phlebedema, the excessive accumulation of fluids due to lymphatic overload that
is a consequence of the additional load imposed by a failing vascular system when
the lymphatic system is still healthy and capable of working optimally.3 Examples
are early-stage chronic venous insufficiency, often associated with problems of vascular fragility, inflammation of the blood vessel walls, and venous thrombosis. The
term phlebo-lymphedema, perhaps represents a semantic nuance, but there may be
a need to understand the pathogenesis, i.e., which came first, lymphatic (lymphophlebedema) or vascular dysfunction (phlebo-lymphedema)?
On most occasions, the lymphatic system is structurally and functionally normal
and can manage a large additional load of fluids, such as that which occurs when
there is a compromised venous system; however, continuing excessive loads above
16 Differential Diagnosis – General Considerations
121
the maximum transport capacity can lead to its failure.4 If, in addition, the lymphatic
system has a structural impairment of the type that occurs when the lymphatic system is malformed, the transport capacity can be significantly reduced.
If the assessment shows an underlying issue with the lymphatic system, one of
the aims should be to work in concert with a lymphatic disease specialist to determine what might be done to improve lymphatic function.
Guidelines for the differential diagnosis are not yet well-defined or agreed upon.
Most of our diagnostic outcome terminology, and the situations in which the term
“lympho-phlebedema” might be used are based upon the status of the lymphatic
system and whether or not it is able to function within its limits.
4,5
Myxedema is associated with a dysfunctional thyroid (usually hypothyroidism),
which, if uncorrected, can lead to the accumulation of mucinoid materials (proteoglycans) in the tissues. Testing of thyroid function will help confirm if it is this that
contributes to the limb swelling.
Lipedema is the excessive accumulation of fatty subcutaneous tissues due to a
metabolic disorder. It is easily distinguished from lymphedema by the fact that lipedema usually affects both legs with sparing of the feet, the skin on the affected limbs
bruises easily, and often there is pain with externally applied pressure. In regions
affected by abnormal fat deposition, there is no tendency to pit and the skin is soft
and elastic. Even with apparent lipedemas there are various forms and a true lipedema must be differentiated from lipo-hypertrophy. The latter is normally distinguished by a slender trunk and symmetrical fat deposits in the hips and legs. Most
concur that lipo-hypertrophy does not present in its latter stages with excessive fluid
accumulation, as occurs with the later stages of lipedema – which is correctly called
lipo-lymphedema. Their differential diagnosis will be dealt with in the next chapter.
Differentiating the Lymphedemas
Any recommendations concerning the screening and diagnosis of lymphedema,
should take note of the recommendations of the International Lymphoedema
Framework (ILF)1 and the International Society of Lymphology (ISL),2 as well as
many regional groups (European Lymphology Society, Italian, German, and Dutch
societies).
tion system, with a growing movement toward a four-stage system that encompasses the latent or sub-clinical stage.2 These stages refer only to the physical
condition of the extremities and it is acknowledged that a more detailed and inclusive classification must be created based on our growing comprehension of the
underlying pathophysiologies. Within each stage there is currently an “inadequate
but functional severity assessment” based on simple volume differences, but these
changes can be varying degrees of fluid, fat, and fibrous accumulation as the lymphedema progresses. Within the ISL severity assessment, “minimal” is described as
6
As a starting point, the ISL consensus recommends using a three-stage classifica-
122 N.B. Piller
less than a 20% increase (over normal limb or baseline – allowing for limb
dominance), “moderate” when it is 20–40%, and “severe” when it is more than
40%.2 Of course, it is never advisable to concentrate exclusively on the physical
elements of disease: there is a range of instruments to assess disability, quality of
life, etc., but, in realistic terms, these aspects will not have an impact on the accuracy of differential diagnosis and are considered in subsequent chapters.
One aspect of accurate diagnosis is lymphoscintigraphy. A lymphoscintigram
can give an indication of the functional status of the lymphatic system, where and
which drainage pathways are hypo- or dysfunctional, where there are areas of dermal backflow or reflux. Lymphoscintigraphic processes and techniques have yet to
be well standardized, but the outcomes (both qualitative and quantitative) can provide strong evidence for a dysfunctional lymphatic system.7 This and other diagnostic tools will be considered in subsequent chapters.
Filarial Lymphedema
Lymphedema often only manifests during the latter stage of this disease, a fact that
is often overlooked. The clinical manifestation and presentation depends on the type
and feeding preferences of the mosquito carrying the filarial parasite. The major
diagnostic confirmation is achieved through sero-conversion and through examination of a peripheral blood sample taken in the late evening or early morning. A
thoroughly conducted medical history will help to determine if the patient has lived
in areas where the parasite is endemic.
Malignant Lymphedema
Usually associated with a rapid onset and a location that is more proximal/central
than the more commonly encountered forms of iatrogenic lymphedema, this variant
occurs through reduction of lymph transport as a consequence of external obstruction of nodes or collectors, or through invasion and proliferation of neoplastic tissues. In addition to the differential diagnostic points already considered, there can
be significant pain, as well as abnormalities of the skin, which can often be shiny
and sometimes cyanotic as well.
Factitious Lymphedema
This may occur in patients who seek attention for an illness initiation or exacerbation. A good differential diagnosis is best gained through a detailed medical/surgical history.
16 Differential Diagnosis – General Considerations
123
Primary Lymphedema
In all tests, primary lymphedemas resemble the secondary form. This differential
diagnosis is generally best established through a review of the patient’s family,
medical, and surgical history. Approximately 3–10% of lymphedemas are primary
in nature and caused by some heritable malformation (generally hypoplasia, but
sometimes hyperplasia) of the lymphatic system, which can become apparent at
birth (Nonne–Milroy), puberty (Meige or praecox) or in later life (tarda). Some
patients may be surprised at the onset of the lymphedema after an apparently minor
surgical intervention, but an exploration of family history may expose genetic
predisposition.
When a Patient Might First Present
A person who has a damaged lymphatic system has a lifetime risk of developing
lymphedema, although the risk level may vary with time. It is the responsibility of
both patient and physician to keep the risk as low as possible by recognizing and
managing all of the factors that can increase the lymphatic load.
Risk Factors to Consider at Presentation
Some risk factors, such as body mass, skin integrity, activity levels (inactivity seeming to be the worst), constrictive clothing (particularly underwear that has elastic
across the line of the groin) and bras (those that are under-wired and have narrow
straps) are under a patient’s control.
Some factors, such as patient age, the extent of axillary or groin clearance, the area
of radiotherapy, whether the surgery/radiotherapy was on the dominant arm, seroma
duration, the number of drains, and wound infection, are beyond the patient’s control.
Signs to Look for at Presentation
Even if there is no obvious swelling, it is worth testing whether the distal part of the
limb shows signs of pitting or considering the use of one of the more objective
instruments to detect subtle fluid differences through bio-impedance spectroscopy.8
These are dealt with in other chapters of this book.
It is important to be aware that lymphedema progresses in a different fashion
than hydrostatic edema. There is no epi-fascial fatty tissue deposition in edema, but
this is characteristic of lymphedema as it progresses (ISL stage II and III).
124 N.B. Piller
There may also be signs of tissue changes associated with the accumulation of
fibrotic tissue (ISL stage III). These changes can often be detected through conducting a “pinch and roll test,” by holding the affected tissues between the thumb and
forefinger and gently rolling the tissues between them (generally referred to as a
Stemmer sign when used at the base of the digits of the hand or foot). While not
always useful in early lymphedema, the Stemmer sign is common in the middle and
late stages. The Stemmer sign is useful to distinguish lipedema and other forms of
tissue swelling from lymphedema, although the Stemmer sign is best used in combination with other diagnostics. A positive Stemmer sign reflects the inability to
pick up a fold of skin at the base of the big toe or fingers; more objective correlates
can be detected through tissue tonometry, ultrasound or some other measure of epifascial tissue change.
9
To determine if the limb is swollen, a circumference measurement can be performed at fixed points in the fore/upper arms or calf and thigh. Unfortunately, this
is only useful if the problem is a unilateral one, where a comparison can be made
with the contra-lateral (normal) limb and the progression assessed against this baseline. If the problem is bilateral, then, at best, the measurements can be used as a
baseline, acknowledging that this baseline may not be the beginning of the lymphedema. There are international best practice guidelines for this.
1,9
References
1. Framework L. Best Practice for the Management of Lymphoedema. International Consensus.
London: MEP Ltd; 2006.
2. International Society of Lymphology. The diagnosis and treatment of peripheral lymphoedema.
2009 consensus document of the International Society of Lymphology. Lymphology.
2009;42(1):51-60.
3. Cavezzi A, Michelini S. Phlebolymphoedema from Diagnosis to Therapy. Bologna: Edizioni
PR; 1998.
4. Foeldi M, Foeldi E. Sufficiency and insufficiency of the lymphatic system. In: Foeldi M, Foeldi E,
Kubik S. Textbook of Lymphology for Physicians and Lymphoedema Therapists. Munich: Urban
and Fisher; 2003.
5. Lee BB, Piller NB. Lymphoedema and lymphatic malformation consensus group report. Union
Internationale de Phlebologie; August 2009; Monaco.
6. Damstra R, Kaandorp C. Multidisciplinary guidelines for early diagnosis and management.
J Lymphoedema. 2007;2(1):57-61.
7. Keeley V. The use of lymphoscintigraphy in the management of chronic lymphoedema.
J Lymphoedema. 2006;1:42-57.
8. Rockson S. Bioimpedance analysis in the assessment of lymphoedema diagnosis and manage-
ment. J Lymphoedema. 2007;2:44-48.
9. Piller NB. To measure or not to measure? What and where is the question. J Lymphoedema.
2007;2:39-45.
Chapter 17
Differential Diagnosis – Lipedema
Győző Szolnoky
Introduction
Lipedema is an infrequently recognized and often neglected clinical entity that
nearly always affects women. It poses a diagnostic challenge as one of the common
disorders that is easily confused with lymphedema.
Definition
1-4
Lipedema is disproportional obesity characterized by bilateral, symmetrical, biker’s
hosiery-shaped fatty swelling of the legs; arms are also commonly involved.
1-4
Various synonyms are found in the literature (adiposalgia, adipositas dolorosa, adipositas spongiosa, adipositas edematosa, thick leg of healthy woman, fat leg, fatty
edema, lipidosis, lipomatosis dolorosa, rider’s hosiery disorder, column leg, stove
pipe leg, jelly leg, areal adiposity, lipohypertrophia corporis inferioris, segmental
adiposity, inferior obesity). This abundance of terminology and unclear definitions
have resulted in some confusion about lipedema, causing under-diagnosis and misdirected treatment.
Manifestations of lipedema typically appear after puberty.
5
2-4
Women are affected
almost exclusively. Men usually develop lipedema on the basis of hormonal disturbance; however, there is one published case report in which a healthy man was
diagnosed with lipedema.6 The general incidence of lipedema among women is
reported to be as high as 11%.2 Ten to 18% of all patients referred to lymphedema
clinics are diagnosed with lipedema. It has been suggested that among all women
with increased fat deposits of the lower extremities, 60% are caused by obesity, 20%
by lipedema, and 20% by a combination of both.
G. Szolnoky
Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary
B.-B. Lee et al. (eds.), Lymphedema,
DOI 10.1007/978-0-85729-567-5_17, © Springer-Verlag London Limited 2011
3
125
126 G. Szolnoky
Lipedema presumably occurs against an endocrinological and genetic back-
ground.
2,7,8
Two leading hallmarks are the frequent appearance of ecchymosis and
hematomas, even after minor traumatic injuries, and spontaneous or palpationinduced pain.
1-4
Lipedema, especially in advanced stages, occurs quite frequently in
association with lymphatic or venous insufficiency. The comorbidities may substantially modify the original limb shape and obscure the diagnosis.
2-4
Clinical Diagnosis
In most cases the diagnosis of lipedema can be established by the patient’s history
and clinical examination.
2-4
There is no absolutely unambiguous pathognomonic
diagnostic test for lipedema.
Classification
At stage I, the skin looks flat, but the subcutis is already enlarged and on palpation
feels like “styrofoam balls in a plastic bag” (see Fig. 17.1). At stage II (see Fig. 17.2),
walnut- to apple-sized indurations develop and the overlying skin has an irregular
surface (“mattress phenomenon”). Stage III shows larger indurations and deforming-to-lobular fat deposits (see Fig. 17.3).
A classification scheme has been proposed on the basis of the location of the fat
deposits: mainly buttocks (type I), buttocks to knees (type II), buttocks to ankles
(type III), mainly arms (type IV), and mainly lower legs (type V).
9
Differential Diagnosis
The most notable differential diagnosis of lipedema (see Tables 17.1–17.3) embraces
obesity, various forms of lipohypertrophy and venous edema or lymphedema.
Unilateral or bilateral venous edema is a hallmark of chronic venous insufficiency. Pitting edema usually disappears or is minimal after bed rest. In contrast to
lymphedema, Stemmer sign is typically negative.
In obesity, the distribution of subcutaneous fat deposits is usually generalized.
Simple obesity may equally affect men and women. Furthermore, the typical sparing of the feet and the pain of lipedema are lacking. Unlike lipedema, simple obesity
efficiently responds to restricted diet and increased exercise. Lipedema is frequently
combined with obesity and altered body structure may misdirect the clinician,
resulting in an inaccurate diagnosis. Early lipedema may be associated with normal
weight.
2,10
2
17 Differential Diagnosis – Lipedema
Fig. 17.1 Stage I lipedema
127
Lipohypertrophy is described as increased symmetrical subcutaneous fat deposits, mostly on the legs and arms in women.11 Lipedema is preceded by lipohypertrophy. The basic difference between lipohypertrophy and lipedema resides in the
absence of edema and pain in lipohypertrophy. However, there are also painful subtypes of lipohypertrophy. One widely used categorization identifies lipomatosis
indolens simplex (multiple lipomas without relevant symptoms), lipomatosis dolorosa (painful fat deposition), lipomatosis atrophicans (accompanying fat atrophy),
and lipomatosis gigantea (overgrowing fatty parts).
The term “lipodystrophy” is usually reserved for local damaged subcutaneous
fat.12 Acquired partial lipodystrophy is called Barraquer–Simons syndrome, in
which adipose tissue loss is noted primarily in the neck, face, arms, thorax, and
upper abdomen. The clinical onset is during childhood or adolescence, predominantly among women. These women are frequently subject to hirsutism, amenorrhea or polycystic ovary syndrome.
128 G. Szolnoky
Fig. 17.2 Stage II lipedema
Dercum’s disease (lipomatosis dolorosa) is a rare, symmetrical disorder involving the inner side of upper arms, elbows, stomach wall, buttocks, inner and outer
surfaces of thighs and knees with painful subcutaneous adipose tissue deposits.13
Severe hyperalgesia is triggered by even light pressure. It is 5–30 times more frequent in women than in men and usually results in a number of psychosocial problems that may partially be attributed to the context of chronic pain syndrome. Other
characteristic symptoms are swollen hands and fingers with accompanying paresthesias, numbness, joint stiffness, dryness of eyes and mouth, and teleangiectasia
with increased fragility of vessels causing ecchymoses. It may first occur in menopause and is not associated with edema.
Benign symmetric lipomatosis (Madelung’s disease or Launois–Bensaude syndrome) is a rare, benign disorder of unknown etiology.
14,15
This syndrome is characterized by multiple, symmetric, non-encapsulated fatty accumulation diffusely
involving the neck and upper trunk areas. It uncommonly involves the lower limbs
and lower trunk. Madelung’s disease can be divided into three major forms according to location: type I (neck), type II (shoulders, interscapular region, and upper
arms), and type III (lower trunk). In other classifications, there are proximal (neck,
shoulders, scapular region), central (backs, thighs), and distal (knees, hands, and