ABSTRACT
Patients with primary lymphedema can be classified by age of onset, functional anatomical attributes, and clinical presentation. The primary lymphedemas are also often characterized by associated clinical anomalies or associated physical attributes. The recognition and accurate diagnosis of primary lymphedema may rely on a variety of imaging techniques, including radionuclide lymphoscintigraphy, computed axial tomography, magnetic resonance imaging, direct contrast lymphography, and/or near-infrared fluorescent lymphography. Distinct genomic mutations have been identified in association with syndromic and nonsyndromic primary lymphedema. Lymphatic vascular malformations present both in isolation and in more complex forms that might include peripheral lymphedematous components. The diagnosis of lymphatic vascular malformations is initially based on the historical presentation and the physical examination. Subsequent diagnostic investigations include Doppler ultrasonography and magnetic resonance imaging and may include assessment of D-dimer and fibrinogen levels in order to identify a venous component and/or to exclude a coagulation abnormality. For a large and growing list of the complex vascular anomalies, with and without lymphatic components, causal somatic activating mutations have been identified. The decision to pursue a genetic assessment in these cases entails tissue biopsy; thus, testing eligibility criteria for combined vascular lesions and large lymphatic malformations have been established.
