Transition of care in inborn errors of immunity: Outcomes of a single-center quality improvement initiative

Transition of care (TOC) of young adults with inborn errors of immunity (IEI) is an emerging medical concern as the number of these patients surviving into adulthood grows. Although clinical immunologists are trained in both pediatric and adult care, some institutions separate pediatric from adult allergy/immunology programs, necessitating this transfer. A recent survey of immunologists suggests low satisfaction with their current TOC practices.¹ The Italian Primary Immunodeficiency Network published disease-specific TOC guidelines,² but these are based on clinical experience and consensus opinion. To our knowledge, there are currently no data reporting patient outcomes of TOC in IEI.³

The Primary Immunodeficiency (PID) Transition Clinic program at the University of California, San Francisco (UCSF) was established in 2017 to address the challenges of transitioning patients with IEI to an adult model of care. Before the institution of this clinic, many pediatric patients with IEI first met adult practitioners during unplanned acute care visits or hospitalizations. In this environment, the complexities of a patient’s medical history were difficult to manage for new providers unfamiliar with the patient or IEI altogether. The PID Transition Clinic prepares patients with IEI and caregivers through the transition and transfer of care to adult immunology. We describe our current approach to TOC and the clinical outcomes to date.

Priority was placed on initiating transition for pediatric immunology patients ≥22 years old as a quality improvement initiative to improve care delivery and gather information for resource allocation at our institution. The active transition period begins when clinically appropriate in a dedicated pediatric transition clinic, which focuses on transition-specific needs. The Transition Readiness Questionnaire (TRAQ), a validated patient-reported questionnaire,⁴ is administered as an objective measure of transition readiness and identifies areas for growth in self-management and self-advocacy skills (Table I).

TABLE I.

Questions from the Transition Readiness Questionnaire (TRAQ)

Transition Readiness Assessment Questionnaire (TRAQ) Version 5.0
Subscale: Managing Medications
Do you fill a prescription if you need to?
Do you know what to do if you are having a bad reaction to your medications?
Do you take medications correctly and on your own?
Do you reorder medications before they run out?
Subscale: Appointment Keeping
Do you call the doctor’s office to make an appointment?
Do you follow up on any referral for tests, check-ups, or labs?
Do you arrange for your ride to medical appointments?
Do you call the doctor about unusual changes in your health (eg, allergic reactions)?
Do you apply for health insurance if you lose your current coverage?
Do you know what your health insurance covers?
Do you manage your money and budget household expenses (eg, use checking/debit card)?
Subscale: Tracking Health Issues
Do you fill out the medical history form, including a list of your allergies?
Do you keep a calendar or list of medical and other appointments?
Do you make a list of questions before the doctor’s visit?
Do you get financial help with school or work?
Subscale: Talking with Providers
Do you tell the doctor or nurse what you are feeling?
Do you answer questions that are asked by the doctor, nurse, or clinic staff?
Subscale: Managing Daily Activities
Do you help plan or prepare meals/food?
Do you keep home/room clean or clean up after meals?
Do you use neighborhood stores and services (eg, grocery stores and pharmacy stores)?

Items from Wood et al.⁴

Patients or parents/caregivers may complete this questionnaire. Answers are selected from “No, I do not know how (1),” “No, but I want to learn (2),” “No, but I am learning to do this (3),” “Yes, I have started doing this (4),” and “Yes, I always do this when I need to (5).” A higher score indicates greater readiness for measured subscales and/or overall transition.

Patient-centered guides to transition such as the Immune Deficiency Foundation Guide for Young Adults (available through primaryimmune.org) and Got Transition, a national resource center for health care transition (available through www.gottransition.org), are also shared. For most patients, the actual transfer of care occurs in 1 visit with the adult transition clinic; patients with complex needs may require multiple or joint visits with pediatric and adult immunology (Figure E1, available in this article’s Online Repository at www.jaci-inpractice.org). At the initial adult transition clinic visit, the intake focuses on establishing a relationship with the new care team and reviewing important medical history. After the transfer of care, patients and parents/caregivers continue assessment of transition milestones, complete a follow-up TRAQ, and are given an opportunity to provide feedback.

We transferred 20 patients with IEI diagnoses to UCSF Adult Immunology Clinic between October 2017 and December 2022. The median age of transfer was 28.5 years (Table II). Patients established care with adult immunology in a median of 3.0 months. Notably, there were no significant differences between acute care visits, hospitalizations, or antimicrobial prescriptions in the 24 months before and after transfer (Table II). Four patients died with a median time of 36 months from transfer of care: 2 from worsening of IEI-related complications and 2 from serious infection (1 in a patient with cognitive disabilities and 1 in a patient with medication noncompliance).

TABLE II.

Demographics and outcomes of patients transitioned to Adult Immunology Clinic

	Transfer to the Adult Immunology Clinic (n = 20)
Age at transfer, median (quartiles) (y)	28.5 (26.0, 35.0)
Male sex, n (%)	22 (79)
IEI diagnosis, n (%)
Humoral defects	6 (30)
DiGeorge syndrome	4 (20)
Combined immunodeficiency	5 (25)
Innate immune defects	5 (25)
Months between pediatric immunology and transfer visits, median (quartiles)	3.0 (2.0, 8.5)
Post-transfer visits with pediatric immunology, n (%)	2 (10)
Outcomes
Acute care visit, median (quartiles)
24 months before transfer	1.5 (0.0, 3.0)
24 months after transfer	1.0 (0.0, 3.3)
Comparison before and after transfer	P = .759
Hospitalizations, median (quartiles)
24 months before transfer	0.5 (0.0, 1.0)
24 months after transfer	1.0 (0.0, 2.0)
Comparison before and after transfer	P = .526
Antimicrobial Rx, median (quartiles)
24 months before transfer	2.0 (0.8, 9.3)
24 months after transfer	2.0 (0.0, 5.3)
Comparison before and after transfer	P = .492
Death, n (%)	4 (20)
Months between transfer and death, median (quartiles)	36 (29, 37)

Transfer was defined as the initial Adult Transition Clinic visit. Comparisons before and after transfer were analyzed with the Kruskal-Wallis test for continuous variables with skewed distributions using R.

IEI, Inborn errors of immunity; Rx, prescription.

For many of our patients, the transition to adult care was met with challenges from both the patient and the provider perspective. We identified some of these barriers to transition in our cohort.

HEALTH SYSTEMS AND INSURANCE

Patients with IEI and caregivers may be hesitant to transition due to dependence on the pediatric immunology team and may struggle with adult care models in which patients are expected to take greater initiative. Both pediatric and adult health care providers, including immunologists,¹ consistently report lack of preparation, time, compensation, and/or support personnel as barriers to TOC and comprehensive care. In our cohort, lapses or changes in insurance coverage have caused delays in obtaining medications, procedures, and appointments with primary care providers and adult subspecialists.

PATIENT COMPLEXITY

Although early discussion of TOC is encouraged for all patients reaching transition age, pediatric immunology providers may delay transfer to adult immunology due to clinical instability, complexity of care, and/or if the patient or parent/caregiver has not expressed readiness. TOC is complicated by the heterogeneity of IEI and complications including autoimmunity, chronic lung disease, malignancy, and late effects of hematopoietic cell transplant or gene therapy. As many adult subspecialists may not be familiar with organ-specific complications of IEI or IEI altogether, consensus TOC guidelines may help primary care providers and subspecialists anticipate complications and late effects. Multidisciplinary visits with relevant subspecialties such as hematology and pulmonology may be helpful to coordinate care. In our practice, joint visits with infectious disease embedded into our adult transition clinic have been beneficial. Other specialist support, such as clinical pharmacy, is needed to manage long-term antibiotics requiring frequent dose adjustments and monitoring for cumulative toxicities.⁵

COGNITIVE DISABILITY

In our patient population, 20 patients ≥22 years old have not yet completed TOC. For 60% of adult patients not yet transitioned, cognitive disability poses a barrier to transition (Table E1, available in this article’s Online Repository at www.jaci-inpractice.org). These patients and their caregivers have required significant oversight and frequent communication with the pediatric nurse practitioner and social worker to coordinate medical care and encourage self-management skills. A modified TOC model with extended psychosocial support into adulthood needs to be considered for patients with IEI and cognitive disability.^6,7 In some chronic illnesses such as congenital heart disease, cystic fibrosis, and cancer, cognitive disability is considered a contraindication to TOC.^6,7 Similarly, some IEI patients with profound cognitive disability may benefit from continuing care with pediatric subspecialists.

SOCIAL DETERMINANTS AND OTHER PSYCHOSOCIAL FACTORS

Social determinants of health also impact patient/caregiver ability to self-advocate and independently manage their medical needs. In our patients, these factors include poor medical literacy, absence of parental, caregiver, and/or social support, financial instability, and increased distance to tertiary care. Medical nonadherence was noted in 45% (Table E1, available in this article’s Online Repository at www.jaci-inpractice.org). These patients are at risk for poor clinical outcomes. Ongoing assistance from social work, mental health providers, and/or patient care navigators is essential to support transition readiness and ensure continued health care engagement, especially for patients with absent or limited caregiver support.

In summary, we completed TOC for 20 patients in a structured PID transition clinic without a significant increase in unplanned health care utilization. However, the complex medical and psychosocial circumstances of patients with IEI represent a major barrier to those who have not yet transferred and were likely factors involved in post-transfer deaths.

Patients with chronic illness report an average gap of 20 months in establishing care with a new subspecialist.⁸ Using our planned multidisciplinary approach, we minimized interruptions to clinical care during this vulnerable time, and patients were able to establish care with adult immunology in an average of only 3 months.

Our analysis is limited by a small sample size and limited follow-up. Given that this is the experience at a single institution, generalizability is limited. Longitudinal tracking of patient outcomes is a tenet of TOC⁹ and will be important as our cohort ages. Qualitative studies will be important to assess the psychosocial impact of TOC.

A formal IEI-specific TOC program, focused on readiness and patient empowerment, may feasibly improve health outcomes and patient/caregiver satisfaction and should be adaptable to a variety of practice environments. Patient outcomes in TOC should be shared by institutions to improve consensus guidelines.

Clinical Implications.

Studies are lacking that use outcome data to develop recommendations for transitioning adolescent and young adult patients with inborn errors of immunity to adult care models. This article discusses a single academic center’s experience with this important milestone.