Giant Abdominal and Penoscrotal Idiopathic Lymphedema

The lymphatic system produces and transports fluids, immune cells and fats throughout the body. Abnormal transport and accumulation of lymph fluid may cause swelling (lymphedema).
Lymphedema, occurring quite frequently in the medical practice, may appear in a variety of pathologies such as: allergic reactions, infectious diseases, localized infections, radiotherapy, insect bites, as post-surgery reaction, etc. In all cases, it represents a subsequent effect of the main illness [1].
There is very small number of cases where lymphedema occurs as sole affection, the so-called ”primary or idiopathic lymphedema”. It is considered a genetic disease resulting in agenesis or the insufficient development of the lymphatic system [2].
The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of lymphatic cells. These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body’s tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder, but many of these patients do not have a FLT 4 gene mutation. In these cases the cause of the swelling is unknown [1,3].[More]