Hereditary lymphedema type II

Alternate Names

Meige disease; Meige lymphedema; Lymphedema, late-onset; Lymphedema praecox; Lymphedema, hereditary, II; Lymphedema hereditary type

Summary

Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.

Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty.

Epidemiology

The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema.

For unknown reasons, this condition affects females about three times as often as males.

Cause

The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease.

People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease.

Symptoms

Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

30%-79% of people have these symptoms

• Absence of lymph node germinal center
• Atypical scarring of skin(Atypical scarring)
• Cellulitis(Bacterial infection of skin)
• Cobblestone-like hyperkeratosis
• Lymph node hypoplasia
• Pedal edema(Fluid accumulation in lower limbs)
• Predominantly lower limb lymphedema
• Recurrent bacterial skin infections
• Skin dimple
• Skin erosion

5%-29% of people have these symptoms

• Angiosarcoma
• Cleft palate(Cleft roof of mouth)
• Edema of the dorsum of hands
• Facial edema(Facial puffiness)
• Laryngeal edema
• Periorbital edema
• Peripheral edema
• Pleural effusion(Fluid around lungs)
• Skin ulcer(Open skin sore)
• Varicose veins
• Yellow nails

Diagnosis

Lymphoscintigraphy: A method used to check the lymph system for disease. A very small amount of a radioactive substance that flows through the lymph ducts and can be taken up by lymph nodes is injected into the body. A scanner or probe is used to follow the movement of this substance. Lymphoscintigraphy is used to find the sentinel lymph node (the first node to receive lymph from a tumor) or to diagnose certain diseases or conditions, such as lymphedema.

MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).

The swollen arm or leg is usually measured and compared to the other arm or leg. Measurements are taken over time to see how well treatment is working.

Treatment

Manual Lymph Drainage (MLD) This is a gentle manual treatment that uses lymphatic pathways to improve lymph flow and empty fluid-filled areas.

Compression Therapy Multilayer low-stretch bandages are applied to the limb to prevent refilling of the evacuated fluid. Compression therapy occurs with each MLD treatment. In a later phase of treatment, compression garments are worn during the day.

Decongestive Exercises Specific lymphedema exercises are prescribed. Exercising with the bandages in place improves the muscle pumping action and, with time, decreases the swelling.

Skin and Nail Care Since infections can be a serious complication of lymphedema, patients are instructed in meticulous hygiene to eliminate bacterial and fungal growth to reduce the chance of infection.

Home Management Training in bandaging and other home management basics is provided to ensure continued success after completion of the program. Compliance with the home program can effectively control the swelling.

While there is no cure for lymphedema, it can be successfully treated and managed through a complete decongestive therapy program.

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NIH genetic and rare disease info

• NIH info on Hereditary lymphedema type II

Hereditary lymphedema type II is a rare disease.

Hereditary lymphedema type II Resources
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