Pharming Announces New ICD-10-CM Code for APDS, a Rare Primary Immunodeficiency
Implemented by the
"By assigning this ICD-10-CM code, the
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
"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 δ 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 PI3Kδ (phosphoinositide 3-kinase delta) pathway.1,2 Balanced signaling in the PI3Kδ 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.1,3 APDS is characterized by severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy.4,5 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.
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1. Lucas CL, et al. Nat Immunol. 2014;15:88-97.
2. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218.
4. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606.
5. Maccari ME, et al. Front Immunol. 2018;9:543.
6. Jamee M, et al. Clin Rev Allergy Immunol. 2019;May 21.
7. Condliffe AM, Chandra A. Front Immunol. 2018;9:338.
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