What’s in a name? The complex role nomenclature plays in rare diseases

Language can help shape everything we do: our understanding of experiences, expected behaviours and meaning we try to convey. When language is mis-used, there can be confusion and misunderstanding or unintended prejudice. Nomenclature that is used to define the disease in medicine, especially in rare diseases, can have a surprisingly substantial impact on patients, healthcare professionals (HCPs) and the pharmaceutical industry across the globe. If a disease name is effective and used appropriately, it has the ability to bring people together, create connections and provide much needed support to those who need it the most. This, however, is not always the case and can lead to confusion between patients and physicians, often resulting is less than optimal disease identification and patient care.

To date, an estimated 7,000 rare diseases have been identified. It is an extremely complex area to navigate and issues around optimal patient identification are myriad. The name of a rare disease provides a uniting point under which different groups such as patients, doctors, the pharmaceutical industry, health insurance companies and, indeed, health policymakers share research, spread learnings and facilitate pro-active collaborations. We live in an era in which information is readily available with the stroke of a few keys so it is understandable that a patient recently diagnosed with a disease would search for ‘kindred spirits’ using the disease name. Therefore, when a disease has multiple names, it loses its potential to connect the dots, which ultimately results in the patient being vulnerable to delayed access to the right care. Take, for example, Churg–Straus syndrome: an extremely rare autoimmune condition that induces inflammation of small- and medium-sized blood vessels in individuals with a history of airway allergic hypersensitivity. It can also be described as eosinophilic granulomatosis with polyangiitis, or allergic granulomatosis. Another example, amyotrophic lateral sclerosis – a disease that causes the death of neurons controlling voluntary muscles – is also subject to a range of names: motor neuron disease or Lou Gehrig’s syndrome. Unfortunately, multiple names can dissociate patients from connecting with the right support groups and suppress communication with HCPs and pharmaceutical companies across the globe, leading to poor patient outcomes.

If we look beyond the consequences of too many names, history has proven that disease nomenclature can potentially have inadvertent and unpredictable effects. For instance, Middle East respiratory syndrome (MERS) is a viral disease caused by a novel coronavirus and was first identified in Saudi Arabia in 2012. MERS quickly became a concern for international public health systems due to the associated high mortality rate and its ability to spread rapidly across hospitals. And yes, the syndrome does warrant serious concern. However, in this instance disease nomenclature unintentionally led to the Middle East being labelled a dangerous region for travellers, impacting local tourism and the economies. As the World Healthcare Organization (WHO) reported, “Certain disease names provoke a backlash against members of particular religious or ethnic communities, create unjustified barriers to travel and commerce and trade, and trigger needless slaughtering of food animals. This can have serious consequences for people’s lives and livelihoods.” The WHO has since issued best practices for naming new diseases, advising that nomenclature should be as consistent as possible, with a focus on the use of generic or specific descriptive terms. In essence, the name should be short and easy to pronounce, or particularly pertinent when considering an international community of patients and doctors.

Being mindful of disease nomenclature is not exclusive to rare diseases but when looking to improve the standards of care for these patients, getting the nomenclature right and consistent, as early as possible, is of particular importance. Who does the responsibility sit with? Clearly, this is not the role of just HCPs, but also the pharmaceutical industry, the communications agencies that support them and, importantly, the patients themselves. Ultimately, this effort should be collaborative and consensus-driven with efficient communication, done so with care and consistency.