Childhood-onset of primary Sjögren's syndrome: phenotypic characterization at diagnosis of 158 children.

OBJECTIVES: To characterize the phenotypic presentation at diagnosis of childhood-onset primary SS. METHODS: The Big Data Sjögren Project Consortium is an international, multicentre registry using worldwide data-sharing cooperative merging of pre-existing clinical SS databases from the five continents. For this study, we selected those patients in whom the disease was diagnosed below the age of 19 years according to the fulfilment of the 2002/2016 classification criteria. RESULTS: Among the 12 083 patients included in the Sjögren Big Data Registry, 158 (1.3%) patients had a childhood-onset diagnosis (136 girls, mean age of 14.2 years): 126 (80%) reported dry mouth, 111 (70%) dry eyes, 52 (33%) parotid enlargement, 118/122 (97%) positive minor salivary gland biopsy and 60/64 (94%) abnormal salivary US study, 140/155 (90%) positive ANA, 138/156 (89%) anti-Ro/La antibodies and 86/142 (68%) positive RF. The systemic EULAR Sjögren's syndrome disease activity index (ESSDAI) domains containing the highest frequencies of active patients included the glandular (47%), articular (26%) and lymphadenopathy (25%) domains. Patients with childhood-onset primary SS showed the highest mean ESSDAI score and the highest frequencies of systemic disease in 5 (constitutional, lymphadenopathy, glandular, cutaneous and haematological) of the 12 ESSDAI domains, and the lowest frequencies in 4 (articular, pulmonary, peripheral nerve and CNS) in comparison with patients with adult-onset disease. CONCLUSIONS: Childhood-onset primary SS involves around 1% of patients with primary SS, with a clinical phenotype dominated by sicca features, parotid enlargement and systemic disease. Age at diagnosis plays a key role in modulating the phenotypic expression of the disease.

Antiphospholipid syndrome in Mexican children.

BACKGROUND: Data on pediatric antiphospholipid syndrome (APS) are very sparse. OBJECTIVES: To describe the main clinical characteristics, laboratory data and complications of pediatric APS patients, and to analyze the differences between primary APS and APS associated with systemic lupus erythematosus (SLE). METHODS: We retrospectively reviewed clinical and laboratory data of 32 children at the Federico Gomez children's hospital in Mexico. Nineteen patients had SLE, 12 (37.5%) had primary APS and 1 (3%) had immune thrombocytopenic purpura. We collected information on sociodemographic variables, vaccinations, age at onset, and family history of rheumatic disease, hematological disorders, skin disorders and non-thrombotic neurological disorders. Immunological features included immunoglobulin (Ig) G and IgM anticardiolipin antibodies, IgG and IgM anti-beta2 glycoprotein I antibodies, lupus anticoagulant, and anti-dsDNA and antinuclear antibodies. RESULTS: The patients included 24 females and 8 males. The most common thrombotic events were small vessel thrombosis (44%), venous thrombosis (28%) mainly deep venous thrombosis (DVT) in lower extremities, and arterial thrombosis (25%). The most common clinical non-thrombotic manifestations were hematological (53%) and neurological disorders (22%). There were no significant differences between groups with regard to the site of thrombosis, nonthrombotic clinical manifestations or laboratory features. CONCLUSIONS: There were some important differences between the clinical manifestations of APS in children compared with adults, but we found no significant differences between patients with primary and APS associated with SLE. Larger studies in Latin American APS children are necessary to determine whether there are differences between ethnic groups.

Psychosocial and economic impact of rheumatic diseases on caregivers of Mexican children.

BACKGROUND: Pediatric rheumatic disease (PRD) patients and their caregivers face a number of challenges, including the consequences of the PRD in patients and the impact on multiple dimensions of the caregivers' daily lives. The objective of this study is to measure the economic, psychological and social impact that PRD has on the caregivers of Mexican children. METHODS: This is a multicenter, cross-sectional study including primary caregivers of children and adolescents with PRD (JIA, JDM and JSLE) during April and November, 2019. A trained interviewer conducted the CAREGIVERS questionnaire, a specific, 28-item multidimensional tool validated to measure the impact on different dimensions of the lives of caregivers. Sociodemographic, clinical, and healthcare system data were collected for further analysis. RESULTS: Two hundred participants were recruited (women 169, 84.5%, aged 38 [IQR 33-44] years); 109 (54.5%) cared for patients with JIA, 28 (14%) JDM and 63 (31.5%) JSLE. The healthcare system was found to be determinant on the impact of the disease. The emotional impact was higher in all the participants, regardless of the specific diagnoses. The social dimension showed significant differences regarding PRD, healthcare system, time to reach the center, presence of disability, active disease, cutaneous and systemic manifestations, treatment and partner. Financial and work impacts were more frequent in those caring for JSLE and less so in those with a partner. Family relationships changed in 81 caregivers (25 [12.5%] worsened and 56 [28%] improved). No variables affecting spirituality were found. For caregivers without a partner, the social networks impact increased. CONCLUSION: The influence of sociodemographic factors can be devastating on families with children with a PRD. These data will help physicians to identify the areas with the greatest need for intervention to achieve comprehensive care for caregivers and their patients.

[Juvenile dermatomyositis and extensive calcinosis. Treatment with methylprednisolone and methotrexate]. / Dermatomiositis juvenil y calcinosis extensa. Tratamiento con metilprednisolona y metotrexato.

Juvenile dermatomyositis (JDM) is considered a multisystemic disease of uncertain etiology. The clinical manifestation is a non-suppurative inflammation of the striated muscle, gastrointestinal tract and skin. Dystrophic calcifications are present in 30%-70% of children with JDM. The clinical case we are presenting is a 4 years old female with diagnosis of JDM in accordance to the Bohan and Peters criteria (very early presentation age) with extensive calcinosis, classified as functional class III, without being able to sit down or flex her knees. She was treated with IV methylprednisolone (MPS) bolus every 14 days and oral methotrexate, with improvement of her clinical condition. Even though calcinosis is a frequent finding in connective tissue disease and can cause severe disability, there are no treatment protocols at this time. The simultaneous use of IV MPS and oral methotrexate allows for a faster control of the disease, improvement in muscular force, reduction of erythema and regression of the calcinosis without important collateral effects.

[Systemic lupus erythematosus in a 6 year old female child]. / Lupus eritematoso sistémico en una lactante de 6 meses.

Systemic lupus erythematosus (SLE) is an uncommon disease, particularly in the first decade of life. Finding it before the first year of life is very rare and it entails a difficult diagnosis to document because the clinical manifestations can be very variable and can simulate a great variety of diseases. In the pediatric age, incidence of SLE is 0.36-0.9/100 000 children, with greater prevalence in females 3:1 under 12 years of age and 10:1 in patients over 12 years. There is a very low incidence of SLE before 4 years of age. We present the clinical case of a 9 month-old female in whom four criteria of SLE were clearly documented at 6 months of age. In a review of literature, this is the youngest patient reported with SLE. Physicians must be very alert of the higher risk of systemic complications in children that are diagnosed with SLE at an early age.