(DGIwire) – The immune system ordinarily protects the body from harm. But when things go wrong, the effects can be very serious. Take, for example, a disease called atypical hemolytic-uremic syndrome (aHUS). Although rare—affecting about one in 500,000 people per year in the U.S., reports the National Institutes of Health (NIH)—aHUS causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious problems if they restrict or block blood flow. There is a chance aHUS can become a chronic condition, notes the National Organization for Rare Disorders (NORD).
A diagnosis of aHUS is hard to make without a family history of the disorder, NORD reports. The NIH says the syndrome is characterized by three major features: First, red blood cells can break down prematurely as they squeeze past clots. This can result in anemia, with symptoms including unusually pale skin, yellowing of the eyes and skin, fatigue, shortness of breath and rapid heart rate. Second, a reduced level of circulating platelets—the cell fragments that usually assist with blood clotting—can lead to easy bruising and abnormal bleeding. Finally, people with aHUS can experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of cases.
Lurking behind aHUS could be a problem with the immune system. There is evidence that a significant number of aHUS cases are linked to alterations in the complement system—a part of the body’s immune response which works to destroy invading bacteria and viruses, trigger inflammation and remove debris from cells and tissues, the NIH says.
“Certain proteins linked to aHUS normally protect healthy cells by preventing activation of the complement system when it isn’t needed. If the complement system gets out of control, sometimes due to mutations in complement genes, sometimes due to autoantibodies or other reasons, patients can develop aHUS,” says Gur Roshwalb, MD, CEO of Akari Therapeutics. “The overactive system attacks cells that line blood vessels in the kidneys, causing inflammation and the formation of abnormal clots. These abnormalities can lead to kidney damage and in many cases, kidney failure and ESRD.”
In its quest to procure better treatment for aHUS patients, Akari Therapeutics is testing a small protein named Coversin. Derived from a protein in the saliva of the Ornithodoros moubata tick, Coversin is designed to be given by subcutaneous injection, making self-administration possible if approved for commercialization. Akari is currently studying Coversin in aHUS and other rare diseases, and the company plans to initiate a Phase II study in aHUS in late 2016.
Anyone with further questions about the symptoms and treatment of aHUS should ask their doctor for more information.