Lymphedema praecox

A genetic condition causing lymphedema in young individuals

Lymphedema praecox

Diagram of autosomal dominant inheritance

Lymphedema praecox is a form of primary lymphedema that typically presents during adolescence or early adulthood. It is characterized by the abnormal accumulation of lymphatic fluid, leading to swelling, most commonly in the lower extremities. This condition is often hereditary and can significantly impact the quality of life of affected individuals.

Pathophysiology

Lymphedema praecox is primarily caused by developmental abnormalities in the lymphatic system. These abnormalities can include hypoplasia or aplasia of the lymphatic vessels, leading to impaired lymphatic drainage. The condition is often associated with a genetic predisposition, and it is commonly inherited in an autosomal dominant pattern, as illustrated in the accompanying diagram.

Clinical Presentation

The onset of lymphedema praecox typically occurs around puberty, although it can manifest earlier or later in some cases. The primary symptom is swelling, usually in the legs, which may be accompanied by a feeling of heaviness or discomfort. Over time, the skin over the affected area may become thickened and fibrotic.

Diagnosis

Diagnosis of lymphedema praecox is primarily clinical, based on the characteristic presentation and family history. Imaging studies, such as lymphoscintigraphy, can be used to assess the function of the lymphatic system and confirm the diagnosis.

Management

Management of lymphedema praecox focuses on reducing swelling and preventing complications. This may include compression therapy, manual lymphatic drainage, and skin care to prevent infections. In some cases, surgical interventions may be considered to improve lymphatic drainage.

Related pages

• Lymphedema
• Lymphatic system
• Autosomal dominant