Chronic Multiorgan Rare Disease: The Role of the Nurse Practitioner as a Leader of the Healthcare Team

Funding (T.F.): Research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under Award Number K23AR067889. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. VA Merit: The project described was supported by Award Number I01CX001183 from the Clinical Science Research & Development Service of the VA Office of Research and Development.

Systemic sclerosis (SSc), or scleroderma, is a serious multisystem disease of the connective tissue characterized clinically by thickening and fibrosis of the skin and by the involvement of internal organs, most commonly the lungs, gastrointestinal tract, and heart. Diagnosis may be delayed because of low disease awareness among healthcare professionals, the insidious onset of differentiating features, and the fact that patients often present with complaints typical of other conditions that are often seen in primary care, such as gastroesophageal reflux disease. Early identification of SSc facilitates prompt monitoring for lung disease, which is the leading cause of mortality. Early diagnosis also has important economic implications in terms of reduction of inpatient hospitalizations. Once SSc is diagnosed, integration of the patient into a high-quality, efficient, and cost-effective healthcare delivery service, with a team leader adept in providing medical care and facilitating communication, is paramount for providing the best possible care.

The evolving role of the nurse practitioner (NP) is central to restructuring standard care delivery into a chronic multiorgan rare disease home (CMRDH), which coordinates the care and services for complex syndromic illness.(1) The NP, who has an advanced education and patient-oriented skills, is positioned to play a pivotal role in the integration of issues important to the patient, such as the impact of both disease and treatment on quality of life (QoL), and to minimize the burden of care, particularly for patients on long-term therapies. The NP can coordinate care within a multispecialty service made up of numerous specialties (e.g., rheumatology, pulmonary, gastroenterology, occupational therapy, behavioral health). Furthermore, in a CMRDH, the care plan must center on the patients’ needs, and every effort must be made to improve healthcare experiences and minimize treatment burdens. The purpose of this article is to raise awareness and increase understanding of a coordinated care approach in SSc. As patients with SSc may present with many different comorbid conditions (particularly gastrointestinal tract dysfunction, hand contractures, and lung disease), increased awareness is needed across a broad spectrum of healthcare specialties to allow appropriate coordination of services. Barriers to access and delivery of care are best alleviated by a patient-centered team, which is not based solely on algorithms, but allows a patient and providers to have symptoms assessed in the context of rare disease in a timely manner.

A CMRDH can coordinate care, and potentially decrease mortality and morbidity rates, while focusing on accessibility, value, and affordability. An NP team leader can help integrate a healthcare professional team in order to improve communication and minimize duplicate laboratory and imaging studies. Coordinated communication allows all team members and the patient to understand the impact on QoL of both the disease and its treatment. QoL is an important component of the patient care plan. This plan can be routinely reviewed and updated by the NP, who is the patient’s primary contact in the CMRDH.

Diagnosis of Systemic Sclerosis

SSc affects predominantly women in the third or fourth decade of life and is associated with increased morbidity and mortality. SSc is a rare disease: prevalence estimates vary from 30 to 443 cases per million, which, even at the highest estimate of 4.43 per 10,000 is less than 5 per 10,000, or 500 per million.(2) Diagnosis and referral of a patient with a rare disease to a subspecialist for management requires recognition of key clinical characteristics and appropriate testing. For SSc, physical examination characteristics may be subtle, such as puffy hands, telangiectases, or digital pitting. A high index of suspicion may be required, resulting in diagnostic imaging to identify interstitial lung disease or pulmonary arterial hypertension.(3) Unfortunately, ordering autoantibody tests in the absence of specific clinical signs and symptoms leads to an unacceptable rate of false-positive results and unnecessary referrals to a CMRDH.(4) The NP’s expertise makes her or him a vital resource—she or he is able to prioritize the consultations so that the first visit is of high value and provides the most meaningful information to both the patient and the referring provider. An NP can ensure that the patient obtains appropriate access to providers in a timely and cost-effective manner.

Chronic Multiorgan Rare Medical Disease Home

Many efforts are underway to attempt to improve the affordability of care delivery by focusing on value.(5) A CMRDH must properly receive and process referrals; schedule patients in an appropriate timeframe, with a focus on coordination of services; and maintain excellent communication with both the referring physician and patients.(6) A CMRDH must prioritize all of the referring providers’ concerns in a cost-effective approach.

Accessibility

There are three important aspects to a referral. First, patients who do not have an established diagnosis, but do have signs and symptoms consistent with the rare disease, deserve prompt evaluation. Second, if a referring physician is requesting an evaluation for a positive SSc autoantibody, a phone call to the patient to elicit a history of skin thickening, puffy hands, digital ulcers, or dyspnea can ensure that screening tests such as pulmonary and renal function studies are arranged prior to the patient’s visit. Third, the care team will be able to inform the patient about prognosis on the initial visit only if all appropriate diagnostic information is available. This is particularly important in the patient with a rare disease, because centers of excellence are geographically separated, and long-distance travel may be required. Unfortunately, without a care model that gathers appropriate history in advance of the appointment, the initial visit may be spent explaining why more diagnostic studies and visits are needed. Another benefit of obtaining a pre-visit history for a patient with a rare disease is to minimize patient and provider worry. If the diagnosis is not confirmed, the patient’s questions and concerns can be quickly addressed. Patients who are found not to have a rare disease can be appropriately reassured.

The appropriateness of an early SSc clinic referral is highlighted by work of the Very Early Diagnosis of Systemic Sclerosis (VEDOSS) working group.(7) Patients with Raynaud phenomenon, puffy hands, and positive laboratory results for an antinuclear antibody (ANA), and scleroderma-specific autoantibodies (i.e., anti-centromeric, anti-topoisomerase (SCL-70), and anti-RNA polymerase III) should be evaluated promptly and screened for internal organ involvement to establish a diagnosis of SSc. In contrast, patients with only Raynaud phenomenon or positive SSc-specific autoantibodies may be best evaluated in a capillaroscopy clinic (Figure 1), where rapid access can establish a timely diagnosis and improve outcomes.(8)

Figure 1. New patient referrals to Systemic Sclerosis Clinic. GI, gastrointestinal; NP, nurse practitioner; OT, occupational therapy; SSc, systemic sclerosis.

Patients with established SSc and evidence of end-organ damage, such as digital ulceration, interstitial lung disease, pulmonary arterial hypertension, or severe gastrointestinal tract disease, will likely require highly coordinated care (Figure 1).(9) This is why establishing the presence and severity of symptoms prior to the initial visit is imperative. Once SSc has been identified, a care visit plan can be provided to the patient to help organize information (Figure 2). It is important to identify members of the care team for each patient and realize for that some patients, a provider such as an occupational therapist or social worker may be the most important team member. The CMRDH NP can ensure that the correct providers are engaged and the proper frequency of visits is coordinated. The goal of the visit is patient centered and focuses on communication. The NP can play a pivotal role in coordinating communication among patients, their families, and all healthcare providers on the team.

Figure 2. Chronic medical disease home coordination of services. 6MWT, 6-minute walk test; PFT, pulmonary function tests; SSc, systemic sclerosis.

Affordability

Currently, several immunosuppressive medications, including methotrexate, mycophenolate mofetil, and cyclophosphamide, are being used for the treatment of lung fibrosis and skin disease.(10) Intravenous immunoglobulin, B-cell depletion, anti-interleukin-6 receptor antibody, autologous hematopoietic stem cell transplantation, pirfenidone, and imatinib mesylate also are potential candidates for the treatment of SSc, although their efficacy has not been validated.(11) The use of these therapies requires prior authorization and appeal to get patients the therapies they need in a timely manner. Additionally, close followup of laboratory tests is needed on immunosuppression, and communication of these results to the patient and his or her healthcare team to avoid duplicate studies is imperative for cost containment. The NP can play a critical role in helping to coordinate and train a care team to develop algorithms that best address both physician and patient concerns, including affordable access, potential medication toxicities, and potential adverse drug effects. Close communication with a primary care provider on the details of treatment and monitoring can help ensure that the entire care team is aware of the patient’s care plan and that important healthcare maintenance procedures (e.g., immunizations, screening laboratories, bone density monitoring, cancer screening) are not duplicated.

Quality

Health-related QoL can be measured by questionnaires administered at each visit. Once questionnaires identify patient concerns such as fatigue and depression, the NP can play a critical role in engaging additional team members, such as social workers. The NP can help identify patients at risk for poor outcomes and provide targeted therapy that addresses these patient-centered concerns.(12) Patient-centered care that disseminates information on accessible interventions designed to complement standard care can improve health-related QoL outcomes in SSc and has been shown to play an important role in this patient population.(13) In addition to coordinating care to improve QoL, the NP can help develop research questions that study the implementation of these patient-centered outcome measurement tools. A well-organized care delivery system helps identify patient needs as well as effective research strategies for care delivery.

Conclusion

A CMRDH may be best exemplified by a care team coordinated by a NP that integrates screening, care delivery, and communication for patients with SSc. In a disease such as SSc with heterogeneous presentation, it is essential to prioritize care visits. Pre-visit history and screening tests increase the value of information provided to the patient at the initial visit and appropriately expedite referrals to provide timely diagnosis, prognosis, treatment, and information about clinical trials. Follow-up visits and care plan management of SSc patients with multisystem organ involvement can be expedited by the NP. Communication of all results and questions can be accomplished by a multispecialty care team that is focused on health-related QoL. The goal of the SSc CMRDH is to provide coordinated care for patients with both possible and definite diagnoses of SSc with a focus on value, communication, and research opportunities.

Acknowledgements: The authors would like to thank the University of Utah Medical Group and Vizient for their support of this chronic medical disease home project.

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