According to a story from the Irish Examiner, treatment with the recently approved drug patisiran helped a British surgeon named Carlos Heras-Palou save both his hands and his career. Patisiran is approved for the treatment of the rare disease known as hereditary transthyretin mediated (hATTR) amyloidosis, which can affect the function of the patient’s nerves.
About hATTR Amyloidosis
Amyloidosis is a group of diseases which are most characterized by the build up of abnormal proteins in body tissue called amyloid fibrils. Symptoms are varied and usually depend on the type. Some types are acquired, while others, like hATTR amyloidosis, are the result of genetics. In this variant of the disease, the protein transthyretin, which is normally formed in the liver, is the primary protein that is responsible for amyloid deposits. Symptoms include fatigue, lightheadedness upon standing, weight loss, bleeding, leg swelling, and shortness of breath. Amyloidosis is ultimately a fatal disease, but prognosis varies depending on the type, with hATTR amyloidosis having a more favorable one. With good treatment patients can survive for over a decade. A liver transplant can also cure hATTR amyloidosis since the mutated transthyretin is no longer present. To learn more about amyloidosis and hATTR amyloidosis specifically, click here.
For Carlos, things were not looking good at first. Doctors told him he had six months until the nerves in his hands became so damaged that he would no longer be able to continue his surgical career. However, Carlos was lucky because he was able to join an 18 month long clinical trial for patisiran.
Patisiran uses a unique gene silencing mechanism called RNA interference, which effectively shuts down the mutated gene that is responsible for the disease. Since starting the treatment, the nerves in his hands have steadily begun to heal. Ironically, the 53 year old actually often works on hand repair, so the loss of his own hands to disease would have been unpleasantly ironic.
The timing of Carlos’ symptoms was rather fortunate; if they had begun any earlier, it is not clear if patisiran would have been able to help him as much as it has so far. He was also lucky to get diagnosed pretty early on.