Racial and Ethnic Disparities in Sarcoidosis: From Genetics to Socioeconomics

Cardiac sarcoidosis (CS), an increasingly recognized disease of unknown etiology, is associated with significant morbidity and mortality. Given the limited diagnostic yield of traditional endomyocardial biopsy (EMB), there is increasing reliance on multimodality cardiovascular imaging in the diagnosis and management of CS, with EMB being largely supplanted by the use of ¹⁸F-fluorodeoxyglucose (FDG-PET) and cardiac magnetic resonance imaging (CMR). This article aims to provide a comprehensive review of imaging modalities currently utilized in the screening, diagnosis, and monitoring of CS, while highlighting the latest developments in each area.

La sarcoidosis es una enfermedad granulomatosa que puede afectar diferentes órganos, entre ellos, la piel; las manifestaciones cutáneas son muy diversas. Su diagnóstico es un reto porque la presentación es polimorfa y se necesita la correlación con la histología. Es importante reconocer las lesiones en la piel, pues muchas veces son la primera manifestación de un compromiso sistémico; además, es un sitio accesible para la toma de biopsia. Se presenta un caso novedoso de sarcoidosis subcutánea, una manifestación muchas veces subdiagnosticada y que rara vez aparece en miembros inferiores. También se describen otras manifestaciones de la sarcoidosis cutánea y su tratamiento.

Sarcoidosis is a granulomatous disease that can affect the skin; the cutaneous manifestations are very diverse. Diagnosis of the disease is challenging because its presentation is polymorphous and therefore it is necessary to make a correlation with its histology. It is important to recognize skin lesions, as they are often the first manifestation of systemic disease, and they are also accessible for taking a biopsy. We present a novel case of subcutaneous sarcoidosis, that is often underdiagnosed and rarely appears in the lower limbs. The different manifestations of cutaneous sarcoidosis and their treatment are also described.

Sarcoidosis has been well studied in multiple races and ethnic groups. However, there is a paucity of data that describes sarcoidosis in Hispanics. We aimed to determine the prevalence of Hispanic ethnicity, clinical characteristics and impact of sarcoidosis among Hispanics from a US based national registry.

We conducted a national registry-based study investigating 3835 respondents to the Sarcoidosis Advanced Registry for Cures questionnaire. This registry is a web-based, self-reported questionnaire that provides data related to demographics, diagnostics, organ involvement, treatment modalities, and the physical and psychosocial impact of sarcoidosis. We compared Hispanic patients to non-Hispanics. We performed multivariate logistic regression analysis adjusting for age, gender, education, income and insurance status and looked at the association between Hispanic ethnicity with depression, chronic pain syndrome, chronic fatigue syndrome, impact on family finances, employment-based disability and job termination.

Nine percent of the patients reported a Hispanic ethnicity and the majority of these patients self-identified as white women. The most common organs involved were the lungs (74.9%), central lymph nodes (53.8%), and peripheral lymph nodes (37.1%). Hispanics reported more peripheral nerves and peripheral lymph nodes involvement than non-Hispanics. Hispanics experienced more depression, sleep apnea, and chronic pain syndrome than non-Hispanics. The use of mobility assistive devices was more common among Hispanics, as well as employment-based disability, and disease-related job termination compared to non-Hispanics. The majority of Hispanics reported significantly more pain that interfered with the enjoyment of life than non-Hispanics. On multivariate logistic regression analysis, Hispanic ethnicity was associated with depression (adjusted odds ratio (aOR) = 1.5; 95% CI: 1.01–2.2), chronic pain syndrome (aOR = 1.7; 1.1–2.6), job termination due to sarcoidosis (aOR = 1.7; 1.1–2.7) and higher impact on family finances (aOR = 1.7; 1.1–2.5).

The clinical presentation of sarcoidosis in Hispanic patients differs from that in non-Hispanic patients living in the United States. These differences should be considered when managing Hispanic patients with sarcoidosis. We encourage more studies that investigate phenotyping among Hispanics with sarcoidosis.

To study how demographic differences impact disease manifestation of sarcoidosis using the WASOG tool in a large multicentric study.

Clinical data regarding 1445 patients with sarcoidosis from 14 clinical sites in 10 countries were prospectively reviewed from Feb 1, 2020 to Sep 30, 2020. Organ involvement was evaluated for the whole group and for subgroups differentiated by sex, race, and age.

The median age of the patients at diagnosis was 46 years old; 60.8% of the patients were female. The most commonly involved organ was lung (96%), followed by skin (24%) and eye (22%). Black patients had more multiple organ involvement than White patients (OR = 3.227, 95% CI: 2.243–4.643) and females had more multiple organ involvement than males (OR = 1.238, 95% CI: 1.083–1.415). Black patients had more frequent involvement of neurologic, skin, eye, extra thoracic lymph node, liver and spleen than White and Asian patients. Women were more likely to have eye (OR = 1.522, 95%CI: 1.259–1.838) or skin involvement (OR = 1.369, 95%CI: 1.152–1.628). Men were more likely to have cardiac involvement (OR = 1.326, 95%CI: 1.096–1.605). A total of 262 (18.1%) patients did not receive systemic treatment for sarcoidosis. Therapy was more common in Black patients than in other races.

The initial presentation and treatment of sarcoidosis was related to sex, race, and age. Black and female individuals are found to have multiple organ involvement more frequently. Age at diagnosis<45, Black patients and multiple organ involvement were independent predictors of treatment.