Hereditary Lymphedema: A Lower Limb Swelling

Introduction

Lymphedema, or lymphatic obstruction, is a chronic clinical condition in which excess fluid gets collected in the tissues leading to swelling. Hereditary lymphedema is primary lymphedema which may include Meige disease. Other conditions do not cause it. Although this condition is present since birth, the swelling is rarely seen until puberty.

The swelling often starts in the feet and ankles and then progresses to the legs and knees. Some patients may also get affected by cellulitis. The prevalence of many types of primary lymphedema is expected to be around 1 in 100,000 people younger than 20 years, out of which Meige disease is the most commonly recorded type. This condition affects females about three times as often as males for unknown reasons.

What Are The Types of Hereditary 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:

• MRI (magnetic resonance imaging) scan.

• CT (computed tomography) scan.

• Doppler ultrasound scan.

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 the following:

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 to be more successful. This procedure helps in removing 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 your nails short.

• Use insect repellent when going outside in an area where insects will be present.

• Use a high-factor sunscreen or sunblock when you go outside in the sun.

• Maintain personal hygiene.

• If you 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 know more about this condition, or they may even schedule an in-office consultation to know more about the risks of developing lymphedema.