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Pharming Group N.V. Pharming or the Company announces that a new diagnosis code for reporting cases of activated phosphoinositide 3-kinase delta syndrome APDS a rare primary immunodeficiency will be added to the International Classification of Diseases 10th Revision Clinical Modification ICD-10-CM by the US Centers for Disease Control and Prevention CDC. The diagnosis code D81.82 Activated Phosphoinositide 3-kinase Delta Syndrome APDS will be effective starting October 1 2022.Anurag Relan Chief Medical Officer of Pharming commented 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 worlds 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. The assignment of the ICD-10-CM code will for the first time enable physicians and payors in the US to add a diagnosis of APDS to patients health records which will help connect these individuals with researchers studying the prevalence and course of the disease.In addition by allocating a specific diagnosis the new ICD-10-CM code may help confirm medical necessity in individual patients thus improving their access to relevant care options through US health insurance plans. Caused by genetic variants affecting approximately one to two people per million APDS causes significant lymphoproliferation and immune dysfunction as well as an increased risk of lymphoma. There is no approved therapy for the disease and treatment is generally limited to supportive care such as antibiotics and immunoglobulin replacement therapy. Physician and patient advocacy groups specializing in immunodeficiency disorders along with Pharming expect the decision to raise awareness about this rare disease.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. About Activated Phosphoinositide 3-Kinase Syndrome APDS APDS is a rare primary immunodeficiency that affects approximately one to two people per million. Also known as PASLI it is caused by variants in either of two genes PIK3CD or PIK3R1 that regulate maturation of white blood cells. Variants of these genes lead to hyperactivity of the PI3K phosphoinositide 3-kinase delta pathway.12 Balanced signaling in the PI3K pathway is essential for physiological immune function. When this pathway is hyperactive immune cells fail to mature and function properly leading to immunodeficiency and dysregulation.13 APDS is characterized by severe recurrent sinopulmonary infections lymphoproliferation autoimmunity and enteropathy.45 Because these symptoms can be associated with a variety of conditions including other primary immunodeficiencies people with APDS are frequently misdiagnosed and suffer a median 7-year diagnostic delay.6 As APDS is a progressive disease this delay may lead to an accumulation of damage over time including permanent lung damage and lymphoma.4-7 The only way to definitively diagnose this condition is through genetic testing.
