SNP Shot: Genomic Insights

Milroy disease is a disorder that disrupts the lymphatic system's normal operation. This system is responsible for producing and circulating fluids and immune cells throughout the body. When lymph fluid transport is hindered, fluid builds up, leading to swelling known as lymphedema. People with Milroy disease commonly experience lymphedema in their lower legs and feet, either from birth or during infancy. This swelling usually affects both legs and may worsen with age.

Besides lymphedema, Milroy disease can also present with other characteristics. Some males with the condition are born with hydrocele, a fluid collection in the scrotum. Both males and females might exhibit upslanting toenails, pronounced creases in their toes, wart-like skin growths (papillomas), and prominent veins in the legs. Additionally, some individuals develop cellulitis, non-infectious skin infections that can harm the lymphatic vessels responsible for carrying lymph fluid. Cellulitis episodes can exacerbate swelling in the lower extremities.

Inheritance:

Milroy disease follows an autosomal dominant inheritance pattern. This implies that only one copy of the mutated gene in each cell is enough to cause the condition. In many instances, a person with Milroy disease inherits the mutation from one affected parent. However, new mutations in the FLT4 gene can also cause the disease. These instances occur in individuals without any prior family history of the disorder. Notably, around 10% to 15% of people who have a mutation in the FLT4 gene do not exhibit the symptoms of Milroy disease.