Relevance of systematic anti-nuclear antibodies testing after obstetrical complications.

Adverses pregnancy outcomes are commonly encountered with autoimmune disease (AID). Although anti-nuclear antibodies (ANA) are often present several years before AID diagnosis, the importance of ANA testing has not been evaluated in this context. The objective of this study was to determine if ANA discovery after obstetrical complications is associated with a diagnosis of AID and improves the prognosis of subsequent pregnancies. All patients presented at the multidisciplinary board meeting (MBM) "Thrombophilia and Pregnancy", whose ANA were discovered after an obstetrical complication, were included in a multicenter descriptive study. All patients were referred to an internal medicine consultation for diagnosis. Data were collected retrospectively by computer chart analysis and updated by phone. A total of 404 patients were included, of which 50 (12.4 %) had a diagnosis of AID related to ANA. Patients with AID had higher ANA levels (p < 0.001), with more frequent specificity (26%, versus 6.7%, p < 0.0001), and more often persistent (84% versus 30.8%, p < 0.0001) compared to patients without AID. Subsequent pregnancy outcomes were not significantly affected by ANA levels and AID diagnoses. Our study shows that the discovery of ANA after obstetrical complications may lead to an early diagnosis of AID. It makes us reconsider the systematic determination of ANA after an obstetrical event because in the case where ANA are found positive, an adapted follow-up would reduce the negative impact of ANA presence on subsequent pregnancies.

Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review.

Lysozyme amyloidosis (ALys) is a rare autosomal dominant hereditary systemic amyloidosis associated with a large spectrum of clinical manifestations. ALys phenotype mainly involves the digestive tract, liver and spleen, kidneys, lymph nodes, skin, and lachrymal and salivary glands. Very recently, cardiac involvement and peripheral neuropathy associated with a new p.Leu102Ser variant of lysozyme have been documented. In the present observation, we extend the phenotypic heterogeneity of ALys to the tracheobronchial tree with histologically proven bronchial ALys-amyloid deposits. We report the case of a 62-year-old man of Italian origin (Piedmont) diagnosed with ALys associated with the p.Trp82Arg variant. The patient complained of upper digestive symptoms, sicca syndrome, and lately recurrent pulmonary infections. Thoracic endoscopy revealed a fragile, inflammatory, and granulomatous aspect of the bronchi. Amyloid deposits were observed in the upper digestive tract, salivary glands, temporal artery, and tracheobronchial tree. Symptomatic treatment was offered. Recurrent pulmonary infections occurred during the follow-up. Lung involvement in hereditary ALys has only been exceptionally described. Although vascular involvement has already been reported in ALys in many organs, it never concerned cranial arteries. This case highlights the systemic nature of the amyloid protein variant deposits and expands the spectrum of clinical manifestations to chest involvement. The literature review highlights that hereditary ALys with the p.Trp82Arg variant is frequent in patients coming from Piedmont (Italy). Due to diffuse organs involvement related to ALys, it is important not to misdiagnose ALys for AL amyloidosis, the most frequent form of amyloidosis.

Increased serum levels of fractalkine and mobilisation of CD34+CD45- endothelial progenitor cells in systemic sclerosis.

BACKGROUND: The disruption of endothelial homeostasis is a major determinant in the pathogenesis of systemic sclerosis (SSc) and is reflected by soluble and cellular markers of activation, injury and repair. We aimed to provide a combined assessment of endothelial markers to delineate specific profiles associated with SSc disease and its severity. METHODS: We conducted an observational, single-centre study comprising 45 patients with SSc and 41 healthy control subjects. Flow cytometry was used to quantify circulating endothelial microparticles (EMPs) and CD34+ progenitor cell subsets. Colony-forming unit-endothelial cells (CFU-ECs) were counted by culture assay. Circulating endothelial cells were enumerated using anti-CD146-based immunomagnetic separation. Blood levels of endothelin-1, vascular endothelial growth factor (VEGF) and soluble fractalkine (s-Fractalkine) were evaluated by enzyme-linked immunosorbent assay. Disease-associated markers were identified using univariate, correlation and multivariate analyses. RESULTS: Enhanced numbers of EMPs, CFU-ECs and non-haematopoietic CD34+CD45- endothelial progenitor cells (EPCs) were observed in patients with SSc. Patients with SSc also displayed higher serum levels of VEGF, endothelin-1 and s-Fractalkine. s-Fractalkine levels positively correlated with CD34+CD45- EPC numbers. EMPs, s-Fractalkine and endothelin-1 were independent factors associated with SSc. Patients with high CD34+CD45- EPC numbers had lower forced vital capacity values. Elevated s-Fractalkine levels were associated with disease severity, a higher frequency of pulmonary fibrosis and altered carbon monoxide diffusion. CONCLUSIONS: This study identifies the mobilisation of CD34+CD45- EPCs and high levels of s-Fractalkine as specific features of SSc-associated vascular activation and disease severity. This signature may provide novel insights linking endothelial inflammation and defective repair processes in the pathogenesis of SSc.