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Hereditary Lymphedema

  • Definition

    Hereditary lymphedema is an inherited lymph system disorder. It is characterized by swelling of subcutaneous tissue caused by obstruction of lymphatic vessels and resulting edema of lymph fluid.


    There are three forms of hereditary lymphedema:

    1. congenital (Milroy disease; Nonne-Milroy-Meige syndrome

    2. lymphedema praecox (Meige disease)

    3. lymphedema tarda

    Familial forms of congenital lymphedema (Milroy's disease) and lymphedema praecox (Meige's disease) may be inherited in an autosomal dominant manner with variable penetrance; autosomal or sex-linked recessive forms are less common.

    Related abnormalities can also occur, such as distichiasis, extradural cysts, vertebral abnormalities, cerebrovascular malformation, pleural effusion, cleft palate, hearing loss, and yellowing of the nails.

    Women are affected more frequently than men.


    This disease is genetically determined.


    Lymphedema is generally a painless condition, but patients may experience a chronic, dull, heavy sensation in the leg, and most often patients are concerned about the appearance of the leg.

    Lymphedema of the lower extremity, initially involving the foot, gradually progresses up the leg so that the entire limb becomes edematous (marked by edema).

    In the early stages of lymphedema, the edema is soft and pits easily with pressure. In the chronic stages of lymphedema, the limb has a woody texture and the tissues become indurated and fibrotic.

    The edema generally occurs below the waist but may also be present in the face, larynx, and upper extremities. The swelling may begin in the foot and move upwards.


    The evaluation of patients with lymphedema should include diagnostic studies to clarify the cause. Abdominal and pelvic ultrasound and computed tomography can be used to detect obstructing lesions such as neoplasms. Lymphoscintigraphy and lymphangiography are rarely indicated but either can be used to confirm the diagnosis or to differentiate primary from secondary lymphedema.

    Lymphoscintigraphy involves the injection of radioactively labeled technetium-containing colloid into the distal subcutaneous tissue of the affected extremity.

    Lymphangiography requires the isolation and cannulation of a distal lymphatic vessel and subsequent injection of contrast material.

    In primary lymphedema, lymphatic channels are absent, hypoplastic, or ectatic. In secondary lymphedema, lymphatic channels usually are dilated and the level of obstruction may be determined.


    Patients with lymphedema of the lower extremities must be instructed to take meticulous care of their feet to prevent recurrent lymphangitis. Skin hygiene is important and emollients can be used to prevent drying. Prophylactic antibiotics are often helpful and fungal infection should be treated aggressively.

    Other measures include use of support hose and, in some instances, pneumatic compression. Microsurgical anastomotic procedures have been performed to rechannel lymph flow from obstructed lymphatic vessels into the venous system.


    Is it primary or secondary lymphedema?

    Are further diagnostic tests needed?

    What can be done to reduce the swelling?

    Do you recommend compression?

    Will antibiotics help?

    What skin care procedures should be followed?

    What can be expected with regard to progression of the swelling?