Getting a HSD or hEDS diagnosis - FAQs
What is the difference between HSD and EDS?
At present, it is believed that Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobile Ehlers-Danlos syndrome (hEDS) both lie on the hypermobility spectrum, although some experts debate that HSD and hEDS are separate, distinct conditions. Because there is not yet a definitive diagnostic test for HSD or for hEDS, there is currently no way to differentiate between the two conditions.
hEDS itself, is part of 13 heritable connective tissue disorders. Each type of EDS has its own set of diagnostic criteria, although some features can be seen across all types of EDS, such as joint hypermobility, skin hyperextensibility, and tissue fragiity. The 13 types of EDS are described here. Of the 13 EDS types, hEDS is the only subtype without a genetic marker, so it is diagnosed on the basis of clinical presentation, and exclusion via genetic testing.
At present, the principles and types of management are similar for both HSD and hEDS, and have to be tailored to the individual as every one comes with different clinical presentations. Fundamentally, there are a combination of management strategies that can work for both HSD and hEDS. Importantly, research and recruit a medical team that has experience with other HSD, hEDS patients, and who listens, and works with you.
Why is it difficult to get a HSD or hEDS diagnosis?
Getting a diagnosis can be difficult for several reasons. First, the symptoms of HSD and hEDS can be vague and easily mistaken for other conditions, making it hard for doctors to identify. Additionally, the genetic mutations that cause EDS are complex, and many are not yet fully understood. This can make it difficult for doctors to diagnose the condition based on genetic testing alone. Furthermore, there is a lack of awareness and understanding of EDS among healthcare professionals, which can make it hard for patients to find doctors who are familiar with the condition and able to accurately diagnose it.
Why is it important to get a HSD or hEDS diagnosis?
Getting a diagnosis is important for a few reasons.
Proper treatment: HSD/hEDS is a complex condition that requires specialized treatment, lifestyle adjustments, and medical management. An accurate diagnosis is essential in order to ensure that you receives the appropriate treatment and care.
Quality of life: People with HSD/hEDS may experience chronic pain, fatigue, and various other combination of symptoms that can greatly impact their quality of life. An accurate diagnosis can help to identify the underlying cause of these symptoms, which can lead to improved management and a better quality of life.
Genetic counseling: Genetic counseling can be beneficial for individuals with EDS and their families, as the condition is inherited. Knowing a diagnosis can help families understand the risk of passing the condition on to future generations and make informed decisions about family planning.
Access to support and resources: Having a diagnosis of HSD/hEDS can give individuals access to support groups, specialized healthcare providers, and other resources that can help them manage the condition and improve their quality of life.
Legal and financial benefits: In some cases, having a diagnosis of HSD/hEDS can help individuals to access legal and financial benefits such as disability allowances and special accommodations for work or education.
How can I get a HSD or hEDS diagnosis?
Get a referral to a specialist: HSD/hEDS is a complex condition that requires specialized knowledge and experience to diagnose. It is important to see a doctor or specialist who is familiar with HSD/hEDS and its diagnostic criteria. In countries like Australia, United Kingdom, and the USA, patients get referred to specialised geneticists, and rheumatologists for diagnosis. You will need to speak to a GP about the referral.
Keep detailed records: It can be helpful to keep a detailed record of symptoms, including when they started, how long they last, and how severe they are. This information can help the doctor to make a diagnosis.
Get a thorough physical examination: A physical examination is an important part of the diagnostic process. The doctor will look for signs of hypermobility, skin fragility, and other physical characteristics that are common in HSD and hEDS.
Genetic testing: Genetic testing can be used to confirm a diagnosis of hEDS (by exclusion of other 12 types of EDS). However, it's important to note that not all cases of EDS can be diagnosed through genetic testing and it is not always conclusive.
Be persistent: Getting a diagnosis of HSD/hEDS can be a long and difficult process. If a doctor is not able to make a diagnosis, it may be helpful to seek a second opinion.
It's also important to note that not all healthcare providers may be familiar with HSD/hEDS, so it may take time and persistence to find a provider who can properly diagnose it.