Diagnostic Tools for Autoinflammatory Diseases
Genetic testing and other resources for periodic fever syndromes diagnosis.
Genetic Testing as a Diagnostic Tool
In Textbook of Autoinflammation published in 2019, Drs Ceccherini, Rusmini, and Arostegui state, “The importance of genetic tests to reach a definitive diagnosis has become evident during the past few years.” They also note that advancements in genetics, “has resulted in the increased awareness of the clinical diversity of these diseases, best therapeutic approaches and follow-up schemes for the patients…”
Since many of the autoinflammatory diseases share similar symptoms that may include recurrent high fevers, mouth ulcers, swollen lymph nodes, rashes, joint pain and/or swelling and other symptoms, running a genetic panel that tests for multiple syndromes at once is both efficient and cost effective. It also reduces the chances of missing the cause of the symptoms or missing comorbid conditions when an individual patient has genetics for multiple autoinflammatory diseases.
The most common fever syndrome PFAPA does not have a genetic test, but ruling out fever syndromes that can have similar symptoms, such as HIDS, CAPS, FMF, Behcet-like familial autoinflammatory syndrome (HA20) and TRAPS is important when diagnosing PFAPA. It’s been noted in research that, “A relevant number of patients with monogenic periodic fevers also meet the diagnostic criteria for PFAPA syndrome (Gattorno et al., 2008). In a preliminary experience, 83% of patients with MKD, 57% of patients with TRAPS, and 8% of patients with FMF satisfied the criteria for PFAPA syndrome.” Without genetic testing as part of the diagnosis these patients could easily be misdiagnosed and this may delay getting proper effective treatment.
Any doctor (including a pediatrician or primary care doctor) can order a genetic panel, and in the U.S. in most cases insurance will cover the costs of these tests as they are medical tests. But when needed, all labs have reasonable self-pay and payment plan options. Call the lab to find out your payment options. If you are outside the U.S., call the lab to find out the process for order a panel in your region.
Immune Dysregulation Genetic Panels Available
Several labs used in the U.S. and around the world have panels available that include periodic fever syndromes and other immune dysregulation syndromes, such as immune deficiencies, inflammatory bowel disease, and autoimmune conditions which can all have similar symptoms. All use next generation DNA sequencing, are very accurate tests, and can be used by patients/doctors around the world. If you are outside the US, call the lab to find out the process for your region.
As of 2019 Fulgent has the most comprehensive immune dysregulation panel with 471 genes tested of which more than 40 genes are autoinflammatory. This panel includes almost all known autoinflammatory genes, but does not test for all such as the LYN gene and RIPK1 gene.
Blueprint Genetics‘ panel includes 274 genes with 40 genes associated with autoinflammatory diseases. Of the autoinflamamtory disease it is missing a few such as the TNFRSF11A (TRAPS11) and LYN genes. It does include some not on the Fulgent panel, such as the RIPK1 gene.
As of 2019 Invitae has the least expensive panel at only $250 for self pay* and includes 40 autoinflammatory genes, but it does not include some important autoinflammatory genes, such as TNFAIP3, the gene for Behcet-like familial autoinflammatory syndrome. The Blueprint and Fulgent panels do include TNFAIP3. Invitae does have medical experts available to order genetic testing for patients at an additional cost. Click here to learn more about Invitae’s Genome Medical Experts.
*$250 is the self pay (no insurance used) price ONLY. When choosing to go through your insurance make sure you understand your insurance coverage, copay, deductibles and Invitae’s payment policies as insurance companies are billed up to $1500 according to Invitae’s website. Not all with high deductible plans have qualified for Invitae’s financial assistance. Read more here.
Edited and Co-authored by Autoinflammatory Alliance President Karen Durrant, RN BSN and leading experts on autoinflammatory diseases, this free online database describes the notable symptoms of currently known autoinflammatory syndromes. This database has become a highly respected and important diagnostic tool for doctors around the world. Since these diseases can be very similar and have overlapping symptoms, the chart can help narrow down which SAIDs to consider for a patient and can help guide further testing.
- Click here for the autoinflammatory online database.
- Click here for tips on using the autoinflammatory database.
Genetic Testing Registry
To find a doctor experienced with fever syndromes, contact the Autoinflammatory Alliance here.
Learn More About Genetic Testing
Blueprint genetics produced a series of informational webinars in their Blueprint Academy series that you can watch to learn more about genetics.
The 10/25/18 webinar Utility of genetic testing and application to immune-related disorders , a collaboration between the Autoinflammatory Alliance and Blueprint Genetics, features examples of autoinflammatory diseases.
This kit put out by the Global Genes Project has everything you need to navigate the medical system when trying to find a diagnosis for any rare condition. It includes information on staying organized, how to talk to doctors, how to get your medical records, and much more.