SNP Shot: Genomic Insights

Erythromelalgia is a condition marked by recurring episodes of pain, redness, and swelling, mainly in the hands and feet. These episodes are often brought on by a rise in body temperature, perhaps due to physical activity or moving into a warmer environment. Alcohol consumption and spicy foods can also trigger these episodes. Wearing constricting footwear, warm socks, or gloves can lead to severe pain, hindering daily tasks such as wearing shoes or walking. This pain can disrupt an individual's ability to attend school or work consistently.

While the symptoms of erythromelalgia typically start in childhood, some individuals with milder cases might not experience their first pain episode until later in life. As people with erythromelalgia age and the condition progresses, the hands and feet may become persistently red. Furthermore, the affected areas may spread beyond the hands to the arms, shoulders, and face, and beyond the feet to encompass the entire legs.

Erythromelalgia is frequently classified as a type of peripheral neuropathy because it impacts the peripheral nervous system. This system is responsible for connecting the brain and spinal cord to muscles and sensory cells, including those that detect touch, smell, and pain.

Inheritance:

Some instances of erythromelalgia follow an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition. In some situations, the affected individual inherits the altered gene from a parent who also has the condition. However, other cases arise from new gene mutations, occurring in individuals with no prior family history of erythromelalgia.