When you have a rare disease, how do you ensure you’re getting optimal care?
Clinical practice guidelines, or treatment guidelines, can help. These recommendations – issued by well established medical organizations – synthesize research about diseases and conditions to keep healthcare providers and patients up to date on the latest evidence-based practices. Knowing the guidelines allows patients to be better-informed partners with their healthcare team.
People in the rare disease community, who often become experts in their illnesses, can use practice guidelines to learn which treatments have proven benefit. Changes in the guidelines can help patients and their doctors understand how medical thinking is shifting. Guidelines typically recommend diagnostic or screening tests to order, medications and therapies, how to provide medical or surgical services, how long patients should stay in the hospital, and other details. The goal is to reduce illness and deaths, while improving quality of life.
In January, The American Society of Hematology (ASH), the International Society on Thrombosis and Haemostasis (ISTH), National Hemophilia Foundation (NHF), and World Federation of Hemophilia (WFH) released clinical practice guidelines for von Willebrand Disease (VWD), an inherited bleeding disorder that affects 1% of the world’s population. Many individuals with mild symptoms live with untreated bleeding for years and aren’t diagnosed until they experience a severe bleed that could have been prevented.
Establishing the guidelines is just the beginning. Getting the word out comes next, said Dr. Leonard Valentino, president of the NHF.
“These guidelines are an extremely important step in our quest to address the difficulties individuals go through to obtain an accurate, timely diagnosis, and appropriate treatment. The challenge ahead will be for us to educate both those living with VWD and healthcare professionals on the guideline recommendations,” he said.
Guidelines are not protocols that must be followed, but are recommendations intended for healthcare professionals to consider, according to the National Center for Complementary and Integrative Health at the National Institutes of Health. “While they identify and describe generally recommended courses of intervention, they are not presented as a substitute for the advice of a physician or other knowledgeable health care professional or provider,” the NCCIH said.