WHAT IS LIPEDEMA?
Lipedema is a rather common, yet often painful disorder that affects the accumulation of fat cells in the body. While fat cells, otherwise referred to as adipose tissue, are an important feature in providing the human body with both cushioning and insulation. Lipedema causes the excessive congregation of these cells, particularly around the legs. Sometimes, spreading occurs in the torso, and in many cases, excessive clustering of fat cells is noticed in the arms as well. It’s estimated that arms are affected in nearly 80% of Lipedema cases reported.
Who is Affected by Lipedema?
Women tend to be the vast majority of individuals affected by
Lipedema. It is estimated that 11% of women worldwide suffer from this
disorder. Because Lipedema is highly resistant to both diet and exercise
regimens, it’s not uncommon for women suffering from Lipedema to be
misdiagnosed with either traditional obesity or lymphedema.
Symptoms and Stages of Lipedema
Lipedema can be noticeably characterized by the excessive and
disproportionate appearance of nodular fat accumulations across the legs, hips,
thighs, and often arms. Unlike Lymphedema, Lipedema has a tendency to affect
both limbs equally and generally becomes more apparent over the course of time.
It’s common for those who suffer from Lipedema to bruise rather easily as well.
Overall, Lipedema appears in a series of three stages. Stage 1 presents in
patients as skin that is flat stretched over pearl-sized nodules that show up
within a layer of fat showing increased cell size. Stage 2 presents as indented
skin that’s covering a layer of fat cells presenting as pearl to apple-sized
masses. Stage 3 presents as pearl-sized nodules in combination with excessively
large fat masses causing lobules along the legs, hips, and thighs and
frequently extending to the torso or upper arms.
Potential Lipedema Cause
While there is not confirmed reasoning behind the development of
Lipedema, many medical experts link the condition to significant hormonal
changes that can occur in an individual’s body. This belief very much revolves
around the fact that Lipedema tends to appear most often in women during
pregnancy, near childbirth, and throughout menopause.
Genetics likely plays a role in the occurrence of lipedema. Studies
have shown up to 60% of individuals with lipedema have a family member who also
shows signs of the disease. Currently, there is no specific gene identified
with this disease.
Recent Studies
Studies and research have long been carried out in an effort to
better understand the physiological processes that define Lipedema. The work
continues in the name of hoping to find cures to this disorder in the future. A
recent study published in January 2019 by Doctors Sarah Al-ghadban and Karen
Herbst focused on the histology of thigh skin and fat from a group of women
suffering from Lipedema. They analyzed cell size fluctuations, lymphatic vessel
size standards as well as the occurrence of immune cells infiltrating these
tissues to learn more about how the disorder functions and progresses over
time. The study showed there are dilated interstitial spaces with increased
fibrosis mononuclear inflammation in the tissue of women with lipedema. This
study also aimed to look at a potential correlation between and a woman’s
weight and the development of Lipedema(*1).
Research Logistics
The analysis of Lipedema tissue structure was carried out with the
help of 49 participants divided into two groups based on their individual body
mass index categorizing them as either non-obese or obese. 19 participants were
considered controls while 30 suffered from Lipedema. Small sections of the
thigh skin and fat were obtained from participants using biopsy methods before
being analyzed using precision imaging software.
Study Findings and Conclusions
When the results of this study were analyzed, it was found that fat
cells in those participants who were categorized as non-obese were
significantly larger than in the control group while remaining very similar in
size to those participants in the obese category and control group. Macrophage
numbers, which tend to be significantly increased at sites of infection were
heightened in both non-obese and obese samples as compared to control groups. Dermal
vessels were shown to be significantly increased in non-obese participants as
compared to non-obese controls. Additionally, areas of increased blood vessels,
referred to as angiogenesis, were located in 30% of participants with Lipedema
and not in control groups. Based on this study and its findings, it is believed
that an increased number of macrophages and blood vessels, as well as the
presence of dilated capillaries in thigh tissue and fat, can occur
independently of obesity for those women suffering from Lipedema. It can be
concluded that altered overall vasculature plays a significant role in the
manifestation of this disease.
Family History & Lipedema
3 independent studies find lipedema is an inherited condition.
As reported by The Cleveland Clinic [#} on its website, the exact
lipedema cause is unknown, but the condition runs in families and may be
inherited. This statement is supported by three independent studies conducted
by leading research teams in Europe who validated lipedema is a genetic
condition. Lipedema appears to primarily affect females, presumably driven by
estrogen as it usually manifests at puberty. Lipedema disorder is different
from obesity and is often misdiagnosed as primary obesity because these
conditions commonly overlap.
Researchers hope to continue to study as many families as possible
with multiple cases of lipedema to create a stronger genetic linkage and
determine the biochemical makeup of this disorder. Having this data may help
researchers identify the gene that causes lipedema to increase understanding
and improve treatment for this painful condition.
Fig 1. Bauer and etal. study reaffirms relatives of lipedema patients also suffer from lipedema. In most cases, grandmothers and mothers were affected the most, followed by aunts, sisters, and cousins.
Key Results and Findings of Family History & Lipedema
The familial nature of the condition suggests that lipedema can
demonstrate heritability[1]. The exact nature of the form of inheritance is
difficult to determine.
Of lipedema patients who participated in a study, 73% reported they
had one or suspected multiple family members also had lipedema. Most frequently
affected was the mother (38%), followed by grandmother (17%), aunt (8%), sister
(6%) and cousin (5%).
A study from 2010 showed that within six families of more than three
generations with lipedema disease, a genetic autosomal-dominant hereditary
pattern [2]was found.
Frequent studies of mother-to-daughter mode of inheritance led
researchers to theorize lipedema is a genetic disorder.
Family clusters of lipedema where more than one family member has
the condition indicates a genetic component with a possibly X-chromosome[3]
dominance inheritance pattern. All affected family members were female first-
or second-degree relatives of female patients. One family had six living
affected members in three generations, two families had five affected members,
two had four affected members, and one further family had three living affected
members. As lipedema appears to be most common at puberty, it is reasonable to
assume that hormonal influence underlies the marked female limitation shown in
studies to date. Estrogen is also considered to play a key role in regulating
the manner of development of the condition.
Bauer AT, et al. Plast Reconstr Surg. 2019 Dec;144(6):1475-1484 https://pubmed.ncbi.nlm.nih.gov/31764671/
Ghods M, Georgiou I, Schmidt J, Kruppa P. Disease progression and comorbidities in lipedema patients: A 10-year retrospective analysis. Dermatologic Therapy. 2020;e14534. https://doi.org/10.1111/dtch.14534
Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. 2010. Lipedema: An inherited condition. Am J Med Genet Part A 152A:970–976. https://pubmed.ncbi.nlm.nih.gov/20358611/ and https://www.researchgate.net/publication/346917917_Disease_progression_and_comorbidities_in_lipedema_patients_A_10-year_retrospective_analysis/figures
# Cleveland Clinic Lipedema https://my.clevelandclinic.org/health/diseases/17175-lipedema
[1] Heritability is a measure of how well differences in people’s genes account for differences in their traits
[2] Autosomal dominant inheritance is a way a genetic trait or condition can be passed down from parent to child.
[3] The X chromosome is one of two sex chromosomes. Humans have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells.
Dilated Blood and Lymphatic Microvessels, Angiogenesis, Increased Macrophages, and Adipocyte Hypertrophy in Lipedema Thigh Skin and Fat Tissue: March 2019 Journal of obesity 2019(4–10):1-10 DOI: 10.1155/2019/8747461
Video
Signs of Lipedema explained by Dr. Wright: https://youtu.be/mqCeh2d2I44
Dr. Wright discusses the current thinking of physicians on the various stages of lipedema. He starts by defining lipedema and introducing lipedema symptoms, as well as some of the ways physicians are currently diagnosing lipedema. He then explains the different stages of lipedema and their characteristics. Finally, he ends with a few ways that physicians are attempting to treat this disease. https://youtu.be/uns9_j-GapA
Dr. Wright demonstrates physical signs of lipedema https://youtu.be/c-_WtR2Mj0E
Dr. Wright demonstrates Vein Disease on Lipedema patient https://youtu.be/cdjFbbPO6AQ
Dr. Wright and Dr. Kahn share insight into lipedema fat https://youtu.be/BXiGytaRvdI
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