Q & A by Dr. Drenth
TEA Member: The researchers tell us about progress but why is my life as miserable as before?
Dr. Drenth: Research in erythromelalgia (EM) has progressed greatly over few years. I agree that we made a modest start but by putting articles in medical journals we have advanced the knowledge on the disease in the medical community. You need to have a diagnosis first before you can make the next step. The step to gene identification has helped us a lot. First, EM is recognized as a bonafide and testable disorder. Second, the fact that the gene is in the nerves puts EM in the basket of neurological disorders. Not long ago doctors were debating whether EM represented a disorder of the blood vessels or skin. This puts the disease in a whole new light.
TEA Member: I understand this, but I do not have that genetic mutation.
Dr. Drenth: OK we have begun to understand that in EM the culprit is in the nerves. So that puts the focus on the research. In rare cases, where the gene is absent, patients do not feel pain at all. This indicates that this gene is very important for the way that we feel pain. We suspect that this gene is part of a network of similar genes that can transmit pain. Compare this with electrical wiring, if the light does not work, it can be due to the lightbulb (the gene in EM) but also could due to a broken wire (another gene) or due a faulty plug (another gene). We think that the wires between these genes are not OK.
TEA Member: Why are you focusing on the genetics?
Dr. Drenth: Having a variation in your genetic material does not tell you what is wrong. Compare your genome to a city and think of the houses as genes. We now know which house is responsible for the disease. What we are tracking now is a deep search through the house and to see what is wrong. In one case the roof is leaking, in another the windows are broken and in a third the door lock is broken. If we find a common pattern of what is wrong we learn how variations in this gene cause the disease.
TEA Member: OK, but where are the drugs?
Dr. Drenth: We know that this gene is a potential target and a variety of companies are working to find new drugs. This is easier said than done. The drug needs to improve the gene function without harming others. The gene in EM is part of a network of genes that all lookalike. So the drugs that have been developed so far block our gene but also block other lookalike genes. Well, that is a problem if these other genes are in your heart and in your brain.
TEA Member: But my feet still hurt!
Dr. Drenth: The traditional way of giving drugs is to give it by mouth, but the pain is in the feet! So drug companies have begun to think in ointments or creams that contain the drug so you can apply that where it hurts. Does that work? Well we do not know but efforts to find out are underway.