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  • Significance: Primary lymphedema is a chronic condition without a cure. The lower extremities are more commonly affected than the arms or genitalia. The disease can be syndromic. Morbidity includes decreased self-esteem, infections, and reduced function of the area. Recent Advances: Several mutations can cause lymphedema, and new variants continue to be elucidated. A critical determinant that predicts the natural history and morbidity of lymphedema is the patient's body mass index (BMI). Individuals who maintain an active lifestyle with a normal BMI generally have less severe disease compared to subjects who are obese. Because other causes of lower extremity enlargement can be confused with lymphedema, definitive diagnosis requires lymphoscintigraphy. Critical Issues: Most patients with primary lymphedema are satisfactorily managed with compression regimens, exercise, and maintenance of a normal body weight. Suction-assisted lipectomy is our preferred operative intervention for symptomatic patients who have failed conservative therapy. Suction-assisted lipectomy effectively removes excess subcutaneous fibro-adipose tissue and can improve underlying lymphatic function. Future Directions: Many patients with primary lymphedema do not have an identifiable mutation and thus novel variants will be identified. The mechanisms by which mutations cause lymphedema continue to be studied. In the future, drug therapy for the disease may be developed.

  • Lymphedema is the chronic, progressive swelling of tissue due to inadequate lymphatic function. Over time, protein-rich fluid accumulates in the tissue causing it to enlarge. Lymphedema is a specific disease and should not be used as a generic term for an enlarged extremity. The diagnosis is made by history and physical examination, and confirmed with lymphoscintigraphy. Intervention includes patient education, compression, and rarely, surgery. Patients are advised to exercise, maintain a normal body mass index, and moisturize / protect the diseased limb from incidental trauma. Conservative management consists of compression regimens. Operative interventions either attempt to address the underlying lymphatic anomaly or the excess tissue. Lymphatic-venous anastomosis and lymph node transfer attempt to create new lymphatic connections to improve lymph flow. Suction-assisted lipectomy and cutaneous excision reduce the size of the area by removing fibroadipose hypertrophy.

  • Lipofibromatosis is a slow-growing, childhood soft-tissue neoplasm that is often confused with other conditions. We report a patient with lipofibromatosis causing extremity enlargement at birth. The lesion initially was thought to be a vascular anomaly or lipedema on clinical and MRI examination. When involving the lower extremity, diffuse lipofibromatosis must be differentiated from more common causes of lower limb enlargement in children: lymphatic malformation, lymphedema, or lipedema. Compared with these more frequent conditions, lipofibromatosis usually causes less morbidity. Management of the tumor includes observation or excision. Because complete extirpation of the lesion is difficult, the recurrence rate is high.

Last update from database: 4/4/25, 7:53 AM (UTC)

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