Lipedema

What is Lipedema?

Doctors Allen and Hines first discovered a condition known as lipedema in the 1940s. This condition, which is quite common, affects the fatty tissue beneath the skin, causing both the legs to become enlarged. It is important to note that, despite the similar sounding names, lipedema is not the same as edema and is actually a genetic disorder affecting the growth and distribution of fatty tissue in the body. In a second influential study in 1951, more details about lipedema were given.

The fat distribution in lipedema affects the lower half of the body including the arms, hips, buttocks, thighs, and legs, but it doesn’t typically affect the belly or the feet. Common symptoms of lipedema include pain in the legs, a tendency to bruise easily, lumps of fatty tissue under the skin, and frustratingly, the fat often doesn’t respond to diet and exercise like you would expect.

What Causes Lipedema?

Lipedema is generally believed to be passed down through families. This means it’s inherited from one’s parents, either through an X chromosome (X-linked dominant) or coming from either of the parents (autosomal dominant). There was a study that looked at 330 family members of people with lipedema. They found that the most common way lipedema was inherited was autosomal, although there were a few instances where it was X-linked dominant.

A few cases also reported a change (or mutation) in a gene called POU1F1/PIT-1. This was observed in short mothers, but no physical changes (or phenotypic features) were noted in the sons who inherited the gene from these short mothers or normal height daughters.

Lipedema has also been discovered in people with Williams syndrome. Williams syndrome is caused by the absence (microdeletion) of about 1.6 million tiny parts of chromosome 7q11.23, which includes the ELN or elastin gene. Chromosomes carry our genetic information, and elastin is one of such genes that helps in making a protein that allows tissues in the body to resume their shape after stretching or contracting.

Risk Factors and Frequency for Lipedema

Lipedema is a condition that is believed to affect nearly 1 in every 72,000 people. However, because it is often either misdiagnosed or not diagnosed at all, this number might be an underestimation. While it mainly affects women, there have been some rare cases in men as well. Some studies suggest that about 11% of adults and 6.5% of people in the US have lipedema. In Europe, the prevalence of lipedema is even higher, ranging from 15% to 18%.

Signs and Symptoms of Lipedema

Lipedema, a condition causing a disproportionate distribution of fat, often begins during puberty (in about 55% of cases). Despite attempts to reduce body fat via diet, affected individuals may find this strategy only effective for fat above the waist (96% of cases), leaving their lower extremities unaffected. This imbalance can lead to the painful pressure (71% of cases), easy bruising (82%), formation of varicose veins (39.5%) and other symptoms. Lipedema can also result in visible fat pads (58%), defined as bulging protuberances of fat above or below the knee. Interestingly, 4% of lipedema patients are reported to have a normal Body Mass Index (BMI, an 18.5 to 24.99 kg/m2), along with varying percentages in overweight and obesity categories.

However, it’s important to distinguish lipedema from lymphedema and general obesity. Even though there are similarities, key differences are present. For example, lipedema affects only females and often starts during puberty, pregnancy, or menopause. The fat deposition from and below the waist gradually progresses downwards without any foot involvement. Dieting can lead to reduction of fat above the waist but doesn’t impact the legs.

Remember that each condition has unique characteristics and not one could entirely mimic the other. Understanding these differences is vital in diagnosing and treating each condition appropriately.

Testing for Lipedema

If your doctor suspects you may have a condition called lipedema, they might recommend several tests before deciding on the best course of treatment. Lipedema is a disorder characterized by symmetrical fatty tissue excess, mainly occurring in the legs, often leading to physical discomfort and cosmetic concerns. Typically, before any imaging tests, your doctor will conduct some blood tests that check your liver, kidney, and thyroid functions, as well as your cholesterol (lipid) profile and insulin resistance. These tests help ensure that any problems identified in the imaging aren’t due to conditions affecting these organs or systems.

In recent times, advancements in medical imaging – specifically, nuclear medicine – play an essential role in distinguishing between lipedema and lymphedema (a similar condition involving swelling largely due to lymphatic system damage). Here, in a test called lymphangioscintigraphy, medical professionals inject a tracer solution under your skin. This kind of test can highlight potential abnormalities in your lymphatic system, such as asymmetry or slower lymph flow.

Another type of test that could be conducted is Bioimpedance spectroscopy. This measures the electrical resistance in your body, which can suggest if there is more water in your lower body’s tissue compared to your upper body. Having more extracellular water in your lower body could indicate lipedema.

Another important test used is a DEXA scan. This is usually associated with measuring bone density but can also be used to give information about the amount and location of either fat mass or lean body mass in a person. The test provides a numerical value, which can suggest the presence of lipedema if it crosses a particular cutoff when adjusted for body mass index(BMI).

Doctors also use ultrasound scans to examine the tissue affected by lipedema. These scans could show a thinner skin, a notable increase in the thickness of the subcutaneous fat (the fat layer beneath the skin), particularly in certain areas of the body. Based on the measurement of the subcutaneous fat, doctors can categorize the severity of lipedema from mild to severe. However, it’s worth noting that obese individuals might exhibit similar subcutaneous fat measurements; hence, diagnosis considering other symptoms is also significant.

Further, an MRI of the legs could show widening lymphatic vessels, which is another sign of lipedema. If the widening is more than 3 mm, then it most likely suggests lipedema.

Lastly, specialized heart tests like transthoracic 2D echocardiography or the more sophisticated 3D speckle-tracking echocardiography can characterize heart changes in lipedema patients. They can reveal features like enlarged left heart chambers, certain alterations in the heart’s movement, and stiffness in the aorta. Remarkably, they’ve found that lipedema doesn’t impact the ejection fraction (percentage of blood leaving the heart each time it contracts), maintaining heart functionality.

Treatment Options for Lipedema

Lipedema is a condition often linked with obesity where fat builds up in certain areas of the body. Although a traditional diet may not result in weight loss for those with lipedema, some reports suggest that a ketogenic diet could potentially aid in breaking down fat. However, even with regular exercise, lipedema can continue to worsen. It’s still recommended that individuals with the condition, especially those with unhealthy lifestyles, engage in regular exercise such as speed walking or cycling. Some also find water exercises beneficial as they could help reduce fluid build-up and soften hard fibrotic tissues in the body.

Wearing compression garments is another strategy for managing lipedema, largely for cosmetic reasons. There are different types of garments suitable for different cases – seamless garments work well for women with less lymphedema, and flat garments are suitable for those with ankle cuffs or unusual shapes. Some women with lipedema may also have venous insufficiency (when the veins have trouble sending blood from the limbs back to the heart), which could potentially be treated conservatively, as there’s not enough data to confirm that surgery could effectively improve lipedema.

Surgical intervention could be considered for individuals with lipedema, such as bariatric surgery which could help manage potential associated risks like prediabetes, diabetes, or heart problems. However, this form of surgery might make the lipedema more noticeable. Post-surgery therapies like wearing compression garments and draining excessive fluid are recommended to prevent the development of lymphedema (another type of swelling that generally occurs in the arms or legs).

If more conservative therapies don’t work, liposuction can be very effective for treating lipedema. This procedure involves removing fat while preserving the lymphatic vessels, which carry lymph fluid throughout the body. Various techniques for liposuction include the tumescent technique, where a solution is used to saturate the fat before it’s broken down and removed, and water-jet assisted liposuction, where a jet of solution is used to free up fat for removal. Laser-assisted liposuction is used in areas with fibrosis, or tissue hardening. Liposuction without general anesthesia can lead to faster recovery, and it’s generally recommended that liposuction be performed in multiple sessions rather than trying to remove all the fat at once. After liposuction, many experience improvements in pain, muscle cramps, swelling, bruising, and overall appearance. The main goal of surgical treatment is to reduce volume and help improve difficulties with walking. But, liposuction can be costly, raising issues with insurance coverage and reimbursement.

A device that applies pressure through the air (pneumatic compression) could be used for lipedema as well as lymphedema. Other recommended treatments include manual lymphatic drainage, deep tissue therapy techniques, and compression reduction techniques, which can reduce fibrosis in lipedema fat and increase blood flow to the tissues. Given that poor quality of life, immobility and stress related to physical appearance can lead to depression in lipedema patients, it’s beneficial to educate patients about the disease and provide counseling to promote healthy eating habits, activity, and social interaction. In some cases, referral to specialists like psychotherapists or pain management experts may be helpful.

Numerous medications can be used to manage symptoms associated with lipedema and prevent complications such as lymphedema and venous disease. Sympathomimetics like amphetamine or phentermine may help increase fat metabolism. Metformin and resveratrol could be useful to prevent tissue hardening and inflammation. Diosmin, a extract from citrus fruits, functions as a “lymphagogue” (promotes the flow of lymphatic fluid) and reduces swelling, making it beneficial for lipedema and associated chronic venous insufficiency. Selenium, a mineral, can reduce inflammation and leg volume in lipedema and lymphedema. Some drugs that cause fluid retention, such as calcium channel blockers and several other class of drugs should be avoided, as they may worsen the symptoms.

What else can Lipedema be?

In simple terms, the following conditions can cause lipohypertrophy, which is an abnormal accumulation of fat under the skin. They include:

• Obesity
• Lymphedema (Swelling due to a blockage in the lymphatic system)
• Phlebedema (Swelling due to venous insufficiency)
• Dercum disease (painful growth of fatty tumors)
• Panniculitis (inflammation of the fat layer under the skin)
• Cushing syndrome (a hormonal disorder)
• Hypothyroidism (an underactive thyroid)
• Familial multiple lipomatosis (a genetic disorder causing multiple lipomas)
• Adipose tissue tumors (tumors in the fatty tissues)
• Neurofibromatosis type I (a genetic disorder causing tumors to grow on nerve tissue)
• Multiple symmetric lipomatosis (a condition causing multiple lipomas, also known as Madelung disease, or Lanois-Bensaude syndrome)
• Fibromyalgia or chronic polyarthritis (chronic conditions causing pain in muscles and joints)
• Depression associated with obesity
• Angiolipomatosis (painful lipomas due to blood vessel growth).

It’s important to understand these conditions so that the appropriate medical help can be given for the symptoms encountered.

What to expect with Lipedema

Currently, lipedema cannot be completely cured with existing treatments. However, patients can effectively manage the condition. Adherence to the prescribed treatment, like consistent exercise, wearing compression stockings, and engaging in sports activities, can improve the patient’s outlook and may result in a milder form of the disease compared to those who do not follow these treatments.

The progression of lipedema is not necessarily fixed; the severity can be significantly affected by other existing health conditions the patient has. Such conditions may include mental health issues like depression, obesity, lymphedema (swelling in an arm or leg, often due to a blockage in the lymphatic system), or peripheral artery disease (narrowed arteries reduce blood flow to your limbs).

Possible Complications When Diagnosed with Lipedema

Lipedema is a condition that often develops into lymphedema, which is swelling in the body due to an accumulation of lymphatic fluid. Lymphedema can either be primary, happening due to internal abnormalities of the lymph vessels, or secondary, being caused by an external change such as surgery. The effects of lymphedema can be seen as uneven swelling in both lower extremities due to fluid buildup. One common sign of lymphedema is difficulty pinching skin at the base of the second toe, a sign known as the “Stemmer sign.” Another common sign is evidence of pitting, or small impressions remaining in the skin after pressure has been applied. If lipedema and lymphedema are present together, it’s often referred to as lipo-lymphedema. This condition increases the risk of cellulitis and wound development.

Lipedema is frequently associated with obesity, though the two conditions differ. A clear distinction between them is that obesity does not have tissue tenderness nor easy bruising as lipedema does. In lipedema, fat distribution is disproportional between the upper and lower parts of the body, something not seen in obesity. Obesity and other conditions like polycystic ovarian disease can make lipedema worse.

Individuals with lipedema often experience poor mental health, including depression, self-loathing, and social isolation. There is also a higher prevalence of suicide in women with this condition. Other health problems that can occur hand in hand with lipedema include back curvature, knock knees, knee arthritis, walking pain, ankle pronation, varicose veins, and cellulitis.

Risks related to the cardiovascular system include increased stiffness and dimensions of the aorta, and decreased aorta strain and distensibility. Changes in connective tissues in the aorta may lead to a higher risk of death due to cardiovascular problems. It’s worth mentioning that compression stockings do not improve the enlargement and functional impairment of the mitral annulus, a part of the heart.

Possible Signs of Lymphedema:

• Difficulty pinching skin at the base of the second toe (Stemmer sign)
• Evidence of skin pitting
• Increased risk of cellulitis and wound development

Differences Between Lipedema and Obesity:

• Tissue tenderness and easy bruising in lipedema, not obesity
• Disproportional upper and lower body fat distribution present in lipedema, not obesity

Lipedema’s Mental Health Effects:

• Depression
• Self-loathing
• Social isolation
• Higher rates of suicide in women

Associated Health Problems:

• Back curvature
• Knock knees
• Knee arthritis
• Walking pain
• Ankle pronation
• Varicose veins
• Cellulitis

Cardiovascular Risks:

• Increase in aortic stiffness
• Increased aortic diameter
• Decreased aortic strain and distensibility
• Higher risk of death due to cardiovascular problems

Preventing Lipedema

If someone is considering losing weight, it’s crucial to find out if they have a condition called lipedema first. Knowing about this disease prior to starting a weight loss program allows for better communication about expectations and disease awareness. Manual treatments like massages, medications, dietary supplements, non-invasive treatment methods, or even weight loss surgery may be considered depending upon the patient’s condition and preference. However, if all these measures fail to provide relief, then liposuction may be an option.

It’s really important to get a correct diagnosis of lipedema to avoid unnecessary frustration and costs associated with wrong treatments. Once a correct diagnosis is made, a treatment plan can be personalized according to individual circumstances.

Lipedema doesn’t affect everyone in the same way. Its severity can vary depending on other illnesses a person may have (co-morbidity) and their genetic and environmental circumstances. So, any treatment plan should be tailored to fit each individual’s unique situation.