MDNews - Cleveland-Akron-Canton

Is It Really Just Another Infection? Recognizing, Evaluating and Treating Primary Immune Deficiency By Nancy Wasserbauer, DO G ETTING SICK IS a normal part of childhood. All those coughs, runny noses and ear infections — you name it. But when is it more than just another infection? When could it be a genetic disorder? Without a properly functioning immune system, the body's ability to fight infection is compromised. That's when you'll see kids with persistent, chronic infections that may signal primary immune deficiency (PID), which can range from mild to severe and from common to rare. In the U.S., 83.3 in 100,000 people have PID. To put that in perspective, the prevalence of cystic fibrosis is 33.3 in 100,000 people and for multiple sclerosis it's 85 in 100,000 people*. Some of the more common symptoms include recurrent infections that need intravenous antibiotics to cure, failure to gain weight or grow normally, chronic diarrhea, deep abscesses or persistent thrush. Another important indicator is a family history of recurrent infections or a diagnosed primary immunodeficiency in a family member. Infants may not start to show symptoms until six months of age when they begin to lose the antibodies transmitted to them by their mothers. However, since symptoms are commonly blamed on daycare, allergies or "just being a kid," the average diagnostic delay is 12–13 years. Spending more than a decade battling illnesses and seeing multiple doctors in search of answers is not only frustrating, but it can be quite ex p en sive. Q u a lit y of li fe a lso decreases — especially for a child who is sick all the time, missing school and other activities. Additionally, going undiagnosed and untreated can lead to more health issues such as lung damage, sinus disease and scarring. Once diagnosed by an allergist/ immunologist, treatment for PID may include booster immunization, prophylactic antibiotics or immunoglobulin G therapy (IgG). Immunoglobulin G therapy provides passive immunity, helping to boost the immune system to fight off infections and control the symptoms of some of the chronic infections. IgG can be delivered through an IV, which is needed every three to four weeks or subcutaneously, which is dosed weekly or every other week. One of the rarest and most lifethreatening forms of PID is severe combined immunodeficiency (SCID). SCID is a group of inherited disorders that cause severe abnormalities of the immune system and if left untreated, is almost always fatal within the first year of life. SCID was added to Ohio's newborn screen in July so we can immediately identify the disease and provide a bone marrow or cord blood transplant, or gene therapy. After the child undergoes treatment at 3.5 to 4 months of age, they will have a 95 percent chance at a normal life. Not only is the newborn screen effective at diagnosing SCID, but it'll pick up other T cell immune diseases including milder forms of PID. Even if the patient is not diagnosed with SCID, any positive test should be referred to an allergist/immunologist for follow-up and treatment. The newborn screen will help us recognize and treat severe PID sooner, but there are still a great number of people undiagnosed with other PIDs. So the next time your patient presents with yet another infection, ask yourself, "Is it really just another infection?" If there is any question, the individual should be seen by an allergist/immunologist who is trained to diagnose, treat and manage allergies, asthma and immunologic disorders like PID. Dr. Nancy Wasserbauer is an Allergist/ Immunologist for Akron Children's Hospital and is board certified in Pediatric Allergy & Immunology by the American Board of Pediatrics and the American Board of Allergy and Immunology. ■ *Source: Boyle, ML, Scalchunes, C. Impact of intravenous immunoglobulin (IVIG) treatment among patients with primary immunodeficiency diseases. Pharmaceuticals Policy and Law. 2008; 10:133-146. 2014 JANUARY/FEBRUARY ■ MDNEWS.COM ■ MD NEWS Cleveland/Akron/Canton | 23

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