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Genetic testing may lead to more accurate diagnoses

A study published in the medical journal Allergy, Asthma & Clinical Immunology suggests that genetic testing may be useful in detecting hereditary angioedema, also called HAE, which could protect people in Georgia from misdiagnoses. HAE is a genetic disease that causes sudden, repeated instances of swelling in deep layers of the skin. It can be divided into three types. Types 1 and 2 are related to mutations in the SERPING1 gene; type 3 is caused by a mutation located in the F12 gene.

Other forms of HAE exist though, according to researchers, for which the exact cause remains unknown. These forms of the disease are collectively referred to as HAE-U. The disease carries a combination of severe symptoms and a high likelihood of misdiagnosis, which can lead to further injury to the patient. The researchers involved in the study examined 2,820 people who did not have any genetic disorders to see if they had the variant genes. Only one person in the test population was found to have either of the variants, a 31-year-old woman.

The woman’s medical history indicated she had previously experienced tongue and lip swelling, for which she was given Benadryl, steroids and an EpiPen. All of these treatments are designed for allergic reactions; they are not proper treatments for HAE. The researchers hope that genetic testing will avoid this sort of misdiagnosis and improper medical treatment for HAE patients in the future.

People who have suffered injury due to misdiagnosis or other medical errors in Georgia might be entitled to compensation for lost wages, pain and suffering, medical expenses or other damages. An attorney who practices medical malpractice law may be able to help by gathering evidence, interviewing witnesses or deposing parties with knowledge about the facts of the case. An attorney might be able to negotiate settlement with at-fault parties or draft and file a complaint for relief in civil court.