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Hereditary Lymphedema: A Lower Limb Swelling

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Hereditary lymphedema affects the lymphatic system due to genetic mutations. This article explains this condition in detail.

Written byDr. Divya Banu M

Medically reviewed byDr. Rajesh Jain

Published At November 4, 2022
Reviewed AtAugust 5, 2024

What Is Hereditary Lymphedema?

Primary lymphedema or hereditary lymphedema is a genetic condition affecting the lymphatic system, marked by chronic swelling in parts of the body, most commonly the lower limbs. The lymphatic system, an extensive network of nodes, vessels, and ducts, plays a crucial role in fluid homeostasis, immune cell trafficking, and lipid absorption in the gut. Developmental errors can lead to underdevelopment or overgrowth of lymphatic vessels. These malformed vessels are unable to effectively collect and return lymph to the venous circulation, causing protein-rich fluid to accumulate in the subcutaneous tissues beneath the epidermis of the affected area. This results in swelling, which can range from mild 20 percent to severe 40 percent enlargement of the affected limbs. The retained fluid triggers an inflammatory response, leading to changes in skin quality, tissue thickening or hardening, and increased fat deposition. Individuals with primary lymphedema often experience psychological distress due to their appearance and the need for ongoing self-management. Although there is no cure for primary lymphedema, a regimen of effective compression, an active lifestyle, and maintenance of normal body weight can help limit the condition's progression.

Primary lymphedema arises from abnormalities in the lymphatic vasculature, likely due to disease-causing genetic variants. In most cases, primary lymphedema occurs sporadically, with no known family history or confirmed genetic variant. For some patients, lymphedema may be the sole clinical feature, while for others, it may be the primary or minor feature of a multisystem disorder. It can also be present in systemic conditions affecting internal organs and structures, known as complex lymphatic anomalies.

What Are The Types of Lymphedema?

Lymphedema can be classified into two major types:

1. Primary Lymphedema: It is also called congenital lymphedema. It is evident at birth or soon after puberty. It is a rare type and affects almost 1 in every 6,000 people.

2. Secondary Lymphedema: This type of lymphedema happens due to other causes like infection, trauma, injury, or cancer, which affects the lymphatic system.

How Is Hereditary Lymphedema Caused?

The exact cause of Meige's disease has not been reported yet. Hereditary lymphedema, as the name suggests, is caused due to genetic mutations. These mutated or faulty genes change the lymphatic system's development. Thus, the draining function of the lymphatic system is affected.

Secondary lymphedema can be caused due to various causes, as mentioned below:

  • Injury and trauma.

  • Cancer surgery in which the lymph nodes have been removed.

  • Infections.

  • Radiation therapy.

  • Inflammatory conditions.

  • Cardiovascular or heart disease.

What Are the Symptoms of Hereditary Lymphedema?

The various symptoms that can be seen in a patient with lymphedema are as follows:

  • Swelling: This can be seen in the leg or arm. The fingers or toes can also be involved.

  • Difficulty in wearing jewelry watches, and tight-fitting clothes.

  • Pain or discomfort in the affected limb.

  • Swelling in the head or neck.

  • Restricted range of motion of the hands or legs.

  • Tingling sensation.

  • Recurrence of skin infections.

  • Severe tiredness.

  • Skin thickening and hardening.

  • Blisters or wart-like growths can be observed on the skin.

How Can It Be Diagnosed?

The general physician will ask questions about the signs and symptoms, family, and medical history so that other possible causes of swelling can be ruled out, like a blood clot or an infection not involving the lymph nodes. If the patient has risk factors for developing lymphedema, the diagnosis can be made based on the symptoms. The patient will be asked to undergo certain imaging tests if the physician cannot find an obvious reason for the lymphedema.

The below-mentioned imaging techniques can be used:

Another test that can be used is lymphoscintigraphy. In this, a radioactive dye is injected into the lymphatic system. The movement of the dye is detected by the nuclear scanner coursing through the lymphatic system, and any blockages are checked.

How Can Hereditary Lymphedema Be Treated?

Lymphedema cannot be treated. However, the treatment aims to reduce swelling and pain. Complex decongestive therapy (CDT) is followed. This begins with an intensive therapy phase. During this phase, the patient is provided with daily treatment and training. Following this, the maintenance phase is done. In this phase, the patient is encouraged to take care with the help of the techniques they have been taught.

There are four components of CDT, which are as follows:

1. Remedial Exercises: These are light exercises aimed at improving the movement of the lymph fluid out of the limb.

2. Skincare: This aims to reduce the risk of skin infections like cellulitis with the help of good skin care.

3. Manual Lymphatic Drainage (MLD): The lymphedema specialist performs special massage techniques to guide the lymphatic fluid into working lymph nodes, which can be drained. The therapist also teaches several massage techniques to the patient, which can be used during the maintenance phase.

4. Multilayer Lymphedema Bandaging (MLB):

This technique uses bandages wrapped over the muscles surrounding the lymphatic vessels and nodes. This helps in moving the fluid through the lymphatic system.

Surgery is not preferred as it has shown disappointing results compared to non-surgical management techniques. However, liposuction, a new surgical method, has proven more successful. This procedure helps remove fat from the affected limbs, and thus the swelling is reduced.

Are There Any Complications?

If a patient gets repeated episodes of lymphedema or is left untreated, it can lead to the following complications:

  • Lymphangitis is the inflammation of the lymph vessels commonly caused due to a Streptococcus bacterial infection.

  • Skin infections such as cellulitis can occur.

  • Psychological Effects: The appearance is affected due to lymphedema, which can psychologically impact the patient.

How To Prevent Hereditary Lymphedema?

The following can be done to prevent the beginning or avoid the worsening of symptoms:

  • Avoid performing any heavy activity with the affected limb after cancer surgery.
  • Take rest after cancer surgery.
  • Avoid wearing tight-fitting jewelry.
  • Avoid saunas and steam rooms.
  • Avoid taking hot showers.
  • Do not wear tight-fitting clothes.
  • Look for any changes in the skin.
  • Use moisturizer regularly.
  • Do not go outside barefoot.
  • Use gloves when gardening.
  • Try to keep the nails short.
  • Use insect repellent when going outside where insects will be present.
  • Use a high-factor sunscreen or sunblock while going outside in the sun.
  • Maintain personal hygiene.
  • If individuals get a cut or injury, immediately use an antiseptic wash or cream on the affected area.

Conclusion

Hereditary lymphedema is a primary type of lymphedema that affects the lymphatic system. Individuals can talk to a specialist online with the help of online medical platforms to learn more about this condition, or they may even schedule an in-office consultation to learn more about the risks of developing lymphedema.

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Frequently Asked Questions

Older age is one factor that may raise the chance of getting lymphedema. Obesity or excess weight and psoriatic or rheumatoid arthritis are other risk factors for developing lymphedema.
Hereditary lymphedema is primarily characterized by lymph vessel or lymph node abnormalities caused by genetic defects (mutations).
Hereditary lymphedema can be present at birth and may be associated with other syndromes (anomalies). Milroy's illness, or lymphedema praecox, is the most prevalent type of primary lymphedema. This disorder may be present from birth, or a person may develop symptoms throughout puberty.
Hereditary lymphoedema is uncommon, affecting approximately 1 in 6,000 people.
Lymphedema is a lifelong disease. It rarely poses a threat to your life as long as it is treated adequately. Early diagnosis, regular treatment, and medication will help one lead a normal life like others with proper treatment.
Cellulitis, an skin inflammation caused by a bacterial infection, can lead to limb swelling, commonly mistaken as lymphedema. Lymphedema causes skin thinning because the fluid makes it stretch. This makes it easier for bacteria to get in. Lymphedema causes tissue swelling, a good place for bacteria to grow. Cellulitis causes spots on the skin that are red, swollen, and painful to the touch.
Avoid any trauma to the affected region. Avoid carrying heavy objects with the injured arm. No tattoos in the affected region. Avoid wearing tight clothing, bands, shoes, or jewelry in the affected area.
Grilled or baked lean foods, such as fish or chicken, and consuming beef and pork in moderation. Consider Greek yogurt and cottage cheese as diverse sources of lean protein. Choose high-fiber carbohydrates such as sweet potatoes, beans, brown rice, and oatmeal. These foods might help with lymphedema.
Common lymphedema signs and symptoms include swelling of a body area (such as your breast, chest, shoulder, arm, or leg), skin that feels tight or rigid, changes in texture, and appears red and hot. Pain, tingling, numbness, or discomfort may also be present.
A complete cure is not currently available for hereditary lymphedema. The treatment primarily focuses on reducing edema and preventing potential complications.
Hereditary lymphedema does not hinder one from living and doing the daily activities of living. But minor alterations may be needed if functional hindrances pose a problem. Maintaining a normal lifestyle and attention to the body's signals will help with the condition.
Although obesity is a risk factor for hereditary lymphedema, there is a possibility that even a skinny person can get lymphedema.
Hereditary lymphedema is a chronic condition that needs long-term treatment. However, it would be best if it is not considered a disability until it affects the ability to do things.
The age of onset ranges from embryonic (as determined by prenatal ultrasonography) to middle adulthood.
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