Diabetic nephropathy and end-stage renal disease in a 28-year-old woman, or is it?

Abstract

A 28-year-old Hispanic woman presented to the emergency department with pneumonia and bilateral pulmonary oedema, requiring admission to the intensive care unit. Additional history included type 1 diabetes mellitus, End Stage Renal Disease on haemodialysis and Hashimoto’s disease. On further diagnostic evaluation, she was found to have systemic lupus erythematosus (SLE) with overlap syndrome. The goal of this case report was twofold: to share our holistic investigative processes and to explore how racial identity and experiences play a role in health disparities present in SLE. The diagnostic process was difficult because of language and socioeconomic barriers our patient experienced. Additionally, SLE in the Hispanic population has only recently been researched, limiting specifics about presentation and disease course. In the Hispanic population, SLE has increased morbidity and mortality when compared with the Caucasian population. Thus, our patient’s case highlights the need for holistic practices when diagnosing patients, particularly in historically and presently marginalised identities.

Background

Systemic lupus erythematosus (SLE) and its presentation in women of various ethnicities and of low socioeconomic status has not been deeply researched until recently, with large cohorts studied through Centers for Disease Control and Prevention (CDC) funding. Currently, research shows its prevalence, morbidity and mortality to be greater in these populations than in white women and privileged socioeconomic populations. The case we present highlights the benefit of holistic patient care and of bridging psychosocial and language barriers in healthcare while keeping in mind the structural and individual disparities present in research and in practice.

Case presentation

We share this case of a 28-year-old Hispanic female patient with end-stage renal disease on haemodialysis for 2 years, type 1 diabetes mellitus from 11 years of age, hypothyroidism secondary to Hashimoto’s disease, Raynaud’s syndrome and four miscarriages who initially presented with bilateral pneumonia and effusions.

Her additional history included recent episodes of arthritis, increased fatigue and depression, and sun sensitivity.

During her hospital course, the patient developed a pericardial effusion and acute heart failure with an ejection fraction of ~30%. She remained haemodynamically unstable for much of her hospital stay, thus requiring prolonged intensive care unit monitoring and management.

Considering her history, multiple autoimmune conditions and rapidly progressive renal disease, a work-up for other underlying diseases was performed. There were some limitations to this investigation due to the cultural and language barriers between herself and her physicians. Further, given the low-resource migrant clinic in which she received most of her healthcare, there was difficulty in reviewing the care she previously attained.

Investigations

Considering our team’s concern that the patient had an underlying disease process worsening her clinical presentation, we ordered labs which included antinucleic antibody (ANA) titres. The titres were positive, confirming our suspicions for another autoimmune process in our patient. We proceeded to order more specific labs to find a diagnosis.

• ANA 1:320, reference range <1:40.

• ANA pattern: speckled.

• C4: 2 mg/dL, reference range 10–40 mg/dL.

• C3: 35 mg/dL, reference range 86–184 mg/dL.

• Anticyclic citrullinated peptide antibody: >300 U/mL.

• Rheumatoid factor: 26 (iU)/mL.

• Anti-ribonucleoprotein (RNP) antibody: 1.4.

• Direct antiglobulin: positive.

Radiological studies, although considered by rheumatology, were not completed due to the clinical history, physical exam and laboratory findings, and were felt would not change the initial treatment plan.

Differential diagnosis

Initial labs pointed to the diagnosis of an autoimmune condition. Elevated titres of ANA with a speckled pattern was sensitive for SLE, mixed connective tissue disease (MCTD), overlap syndrome, or less so, polymyositis and Sjogren’s disease.¹ While her extractable nuclear antigen (ENA) was positive for anti-RNP, more specific for MCTD or overlap syndrome, her history of several miscarriages, renal disease and arthritis pointed towards SLE.¹ Consulting rheumatology allowed for further discussion of her symptoms and lab results. Our patient was diagnosed with SLE with overlap syndrome in outpatient rheumatology and was treated accordingly.

Treatment

While in the hospital, our team started the patient on daily prednisone. She was discharged with 20 mg oral prednisone and followed up in the rheumatology clinic. After an outpatient work-up with rheumatology, the patient was continued on prednisone 20 mg, and oral azathioprine 50 mg two times per day was added to the treatment regimen.

Outcome and follow-up

Following administration of daily prednisone in the hospital, the patient began to show significant clinical improvement. Whereas previously she had been unable to sit up in bed due to fatigue, she was gradually able to walk in the hallways. Since discharge, the patient has been followed up by rheumatology with monthly visits over the past year. Clinic notes show the patient has been improving steadily to her baseline and is able to perform all activities of daily living. Unfortunately, in terms of her renal function, the patient remains on haemodialysis. She has been unable to travel to a larger medical institution for further evaluation, as recommended by her rheumatologist.

Discussion

SLE is a chronic autoimmune disorder that affects multiple systems and presents with a wide array of symptoms, signs and laboratory findings. Commonly among most patients with SLE, skin findings such as the malar rash, photosensitivity, and renal, haematological, and neurological disorders can be seen. With research and medical advancements, treatment for SLE has significantly decreased the morbidity and mortality of the disease. However, SLE still has a threefold higher mortality rate when compared with the general population. Cardiovascular, infectious and renal complications are the leading causes of death in patients with SLE.²

While SLE is concerning in and of itself, most concerning are the recent research findings that suggest morbidity and mortality in SLE are affected, likely worsened, by race and lower socio-economic status. In 2004, the CDC began funding cohort studies to better understand the relationship between SLE and these factors. Each geographical site focused on specific races, allowing for a cumulative diverse data set. For example, the New York cohort was focused primarily on the Hispanic population with SLE.³ It has been found that people of colour, especially women, are disproportionately affected by SLE when compared with the white population.³ Prevalence of SLE in Hispanic women is 138.3 per 100,000, compared with non-Hispanic white women (64.3 per 100,000). There is also a higher mortality rate in Hispanics as SLE is ranked the fifth and sixth leading cause of death among ages 15–24 and 25–34.²

Race also impacts the presentation of SLE by favouring different organ systems, thereby affecting morbidity and mortality rates. Hispanic women with SLE have shown a 49.4% prevalence rate of renal disease vs a 25.4% prevalence rate in the non-Hispanic white population, according to the Manhattan Lupus Surveillance Program.⁴ In general, patients of racial minority, including Hispanics, have faster onset of disease, more severe and higher numbers of clinical manifestations, more significant disease activity, higher relapse risk, faster and greater acuity of disease, and higher mortality as compared with white patients.⁵ According to González et al, genetic factors play a role early in the disease process, while non-genetic factors are more significant in determining the course of the disease.⁵

Further complicating the association of race, ethnicity and SLE, the Manhattan Lupus Surveillance Program has found that among the Hispanic cases being studied, many were identified as white cases, some as black cases and some as other race/ethnicity. The data available on Hispanic communities were also often absent.⁴ This suggests the possibility that SLE presentation in Hispanic women may be more disproportionate than the numbers actually shared. While these projects, including the one in Manhattan, have increased our understanding of SLE among different racial groups, it has also left us with more questions. As numbers show, SLE disproportionately affects women of colour, and more so in those with socioeconomic difficulties.

It has been known for some time that structural inequalities aggravate health disparities; however, their relationship with health inequities remains under-researched. Additionally, non-Caucasian ethnicities, including Hispanic, black, Native American and Asian/Pacific Islander heritage, have noted inequities related to healthcare systems and access, research, scientific findings and healthcare technology.⁶ This is likely because, until recently, most ethnic minorities have not been included in research studies. Similarly, SLE in Hispanic women has not been well studied, especially in terms of social and health inequities or barriers. It limits the ability of providers and patients to fully understand the scope of the disease in certain ethnicities and why and how certain modifiable disparities worsen the disease course of SLE. These questions highlight the significance of the case we share, as our patient is a Hispanic woman with both language and socioeconomic barriers to health. These barriers could have hastened her disease course and led to the poor clinical presentation at our first encounter. What is pressing about the situation is that socioeconomic barriers are modifiable. They are modifiable by healthcare professionals, who can take the extra step to ensure holistic care for patients, and particularly for those patients with lower socioeconomic status and therefore greater barriers. There is an obligation to help bridge the gap between practitioners and patients by providing resources for any social support needed, using trained interpreters to overcome language barriers and building a trusting relationship with the patient based on open communication and reliability. Allocating more time and resources to patients who are of lower socioeconomic backgrounds seems essential to ensure thorough healthcare is provided. This can only be done with close follow-up and care in overcoming subconscious and conscious biases towards patients with lower socioeconomic status.

The case shared is an example of the importance of holistic care in patients with limited access to healthcare and the incorporation of careful screening of patients’ socioeconomic disparities to ensure basic medical needs are met. It is also a reminder to see the patient as an individual and to remember to explore possible diseases and presentations that may be more likely due to the patient’s demographic and psychosocial factors. The case seeks to increase awareness of SLE in terms of its associated socioeconomic and ethnic/racial disparities, as continued research and education are needed to address social determinants and to improve the healthcare provided to various racial groups.

Learning points.

• Certain demographic groups have increased prevalence, morbidity and mortality of systemic lupus erythematosus (SLE).

• There is limited research to fully understand the disparities that affect the disease course of SLE in these populations.

• A holistic approach to patient care is important to help minimise present and future disparities.