CDC will Include New ICD-10-CM Diagnosis Code for a Rare Disease in Fall

A new diagnosis code for reporting cases of activated phosphoinositide 3-kinase delta syndrome (APDS) will be included in the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) by the US Centers for Disease Control and Prevention (CDC), according to a statement from Pharming.

Beginning on October 1, 2022, the diagnosis code D81.82 will be activated and designated for the disease. Upon activation, this code will enable physicians and payers to add the diagnosis to patient charts for the first time in the US.

Additionally, this can aid in facilitating better connection between individuals and investigators who are studying the course and prevalence of the disease. Beyond this, the code may emphasize the medical necessity and improve patient access to relevant care options through US health insurance plans.

“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," Anurag Relan, Chief Medical Officer of Pharming said in a statement.

Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)

APDS is a rare primary immunodeficiency affecting 1-2 people per million. Variants in either the PIK3CD or PIK3RI gene lead to the condition by hyperactivating the phosphoinositide 3-kinase delta (PI3K) pathway. These genes regulate the maturation of white blood cells and without balanced signaling in the PI3K pathway physiological immune functioning is disrupted.

Individuals living with APDS experience severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy. Because this progressive disease is often misdiagnosed, a delayed diagnosis can lead to an array of irreversible organ damage including lung damage and lymphoma.

"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," Relan continued. "For healthcare practitioners, this milestone marks an opportunity to make a big difference by taking a simple action.”

Primary Immunodeficiency Treatment & Awareness

Supportive care is the primary treatment for APDS, incorporating the administration of antibiotics and immunoglobulin replacement therapy. Efforts have been made by physician and patient advocacy groups to raise awareness of the rare disease.

Vicki and Fred Modell co-founded the Jeffrey Modell Foundation (JMF) in honor of their son who passed at the age of 15 from primary immunodeficiency (PI) complications. The nonprofit organization is dedicated to early diagnosis, meaningful treatments, and cures for these diseases through research, physician education, public awarenss, advocacy, patient support, newborn screening, and genetic sequencing.

“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," Vicki and Fred Modell stated.

"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.”