Pharming Announces New ICD-10-CM Code for APDS, a Rare Primary Immunodeficiency


The US Centers for Disease Control and Prevention have introduced a new diagnosis code for reporting instances of the uncommon primary immunodeficiency active phosphoinositide 3-kinase delta syndrome (APDS) to the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) (CDC). Starting on October 1, 2022, the diagnosis code D81.82 for Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) will be in use.

“By assigning this ICD-10-CM code, the CDC is formally recognizing APDS as a discrete immunological disease, and that will make a life-altering difference for people affected by the condition. By using the unique diagnostic code to identify both established and new patients with APDS, physicians will increase care options for affected individuals while helping to boost the world’s understanding of the prevalence, mechanisms, and outcomes of this progressively debilitating disease. For healthcare practitioners, this milestone marks an opportunity to make a big difference by taking a simple action.”

Anurag Relan, Chief Medical Officer of Pharming

For the first time, doctors and payors in the US will be able to add a diagnosis of APDS to patients’ health records thanks to the assignment of the ICD-10-CM code. This will make it easier for these people to get in touch with researchers looking into the prevalence and progression of the disease. The new ICD-10-CM code may also assist in confirming a patient’s medical requirement by assigning a precise diagnosis, boosting their access to appropriate care options through US health insurance programmes.

Approximately one to two people per million are affected with genetic variations that produce APDS, which significantly increases the risk of cancer and immunological dysfunction. The condition has no recognised therapies, thus the only options for treatment are mainly supportive measures like taking antibiotics and receiving immunoglobulin replacement therapy. Along with Pharming, medical professionals and patient advocacy organisations with expertise in immunodeficiency disorders anticipate that this choice will increase public awareness of this uncommon illness.

“We are excited that US regulatory authorities have assigned APDS an ICD-10-CM code. As a foundation dedicated to early diagnosis, meaningful treatments, and cures for primary immunodeficiency, we are aware of the physical and emotional challenges people with APDS face due to misdiagnosis of their disease. By increasing recognition of the condition, we expect the new diagnostic code to help ensure that every patient is included when it comes to the delivery of appropriate and meaningful treatments for APDS.”

Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation


About Activated Phosphoinositide 3-Kinase δ Syndrome (APDS)

The prevalence of APDS, a primary immunodeficiency that is uncommon, is one to two per million. It is sometimes referred to as PASLI and is brought on by mutations in either of the two PIK3CD or PIK3R1 genes, which control the development of white blood cells. Hyperactivity of the PI3K (phosphoinositide 3-kinase delta) pathway is caused by variants of these genes. For the immune system to operate normally, the PI3K pathway needs to be signalled in a balanced manner. Immune cell maturation and function are compromised when this system is overactive, which causes immunodeficiency and dysregulation. Severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy are symptoms of APDS. People with APDS experience a median 7-year diagnostic delay due to the symptoms’ wide range of possible causes, including various primary immunodeficiencies. As APDS is a progressive disease, this delay may lead to an accumulation of damage over time, including permanent lung damage and lymphoma. The only way to definitively diagnose this condition is through genetic testing.

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