CONGENITAL LYMPHEDEMA

ALTERNATE NAMES

Congenital Hereditary Lymphedema; Primary Lymphedema; Congenital Primary Lymphedema; Milroy disease

DESCRIPTION

Lymphedema is swelling that is caused by the abnormal accumulation of lymph fluid in tissues, resulting from malfunctions in the lymphatic system or blockage of lymph vessels. Congenital Lymphedema is a rare type of primary lymphedema (non-acquired) occurring at birth. In most cases, lymphedema primarily affects the lower limbs (starting with the feet) but it can also affect the upper limbs. This disorder is characterized by lymphatic pathway dysplasia (abnormal development of the lymphatic vessels that transports lymphatic fluid), and may be associated with aplasia (congenital absence of a limb, organ or other body part) or hypoplasia (incomplete development of an organ or part). The exact cause of congenital lymphedema is unknown, but the disorder may be part of a congenital syndrome. Females are twice as likely as males to have congenital lymphedema.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Biopsy reports documenting lymphatic channel anaplasia; CT, MRI, or nuclear medicine scans; Doppler ultrasonography is used to evaluate flow in the lymphatic and venous systems.

Physical findings: Heavy, swollen lower or upper limbs that may be shorter than unaffected limbs, or may have digital anomalies; Skin changes such as tightness, thickening, discoloration or hardening; there may be signs of infection.

ICD-9: 757.0

ONSET AND PROGRESSION

This disorder occurs at birth or soon after and is most often bilateral. In some cases, the lymphedema may spontaneously improve. Other syndromic types of lymphedema have later onset, most often during puberty.

TREATMENT

There is no cure for lymphedema. Treatment is symptomatic, and surgery is considered to be palliative. Infections are a major risk and require prompt initiation of antibiotics and wound care. Persons with lymphedema are treated with compression bandages and manual lymph drainage massage techniques to move the extra fluid to other parts of the body so that the body can excrete it.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment.

• Doppler ultrasound reports documenting abnormal flow in lymphatic and venous systems.

• Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

101.02 A or B

Listing level severity must be documented.

Medical Equals

101.08

Continuing surgical management must be documented.