Raynaud's phenomenon is a common systemic sclerosis symptom by Steve Bryson, PhD 

​Elevated activity of a blood-clotting protein called Factor XIII (FXIII) in the bloodstream of adults with systemic sclerosis (SSc) is tied to the presence of Raynaud’s phenomenon, a common SSc symptom, a small study suggests.
While most study participants had FXIII activity levels within the normal range, “patients with higher FXIII activity are more likely to have circulatory disorders in their hands,” the researchers noted.
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The study, “Factor XIII and Endothelial Dysfunction in Patients with Systemic Sclerosis,” was published in the journal Hämostaseologie.

In survey, caregivers highlight key barriers to diagnosis, treatment by Steve Bryson, PhD 

Caregivers of children with juvenile scleroderma cited a lack of knowledge about the rare disease within the medical community as the primary barrier to a proper diagnosis and treatment, according to a new survey study.

For more than a quarter of the children, it took more than a year from the first symptoms to get a correct diagnosis. Misdiagnoses — ranging from allergies to eczema to a congenital overgrowth disorder — were commonly reported.

Other major hurdles reported by almost all respondents included finding reliable information about scleroderma — especially regarding pediatric patients — juggling work and the child’s healthcare needs, side effects of medications, and balancing care and school.

“Identifying key care barriers will help direct efforts to address needs, reduce disparities in care, and improve patient outcomes,” the researchers wrote, noting that delays in diagnosis and treatment “have been associated with more persistent disease activity, higher damage scores, and higher relapse rates.”

The survey study, “Barriers to care in juvenile localized and systemic scleroderma: an exploratory survey study of caregivers’ perspectives,” was published in the journal Pediatric Rheumatology.

​Wrong diagnosis common for many children with scleroderma
Juvenile scleroderma is a rare type of childhood scleroderma. Most cases are characterized by localized hardened patches of skin, particularly on the arms, legs, or trunk (torso). In more severe cases, the disease can affect organs throughout the body — this is known as systemic scleroderma — including the heart, kidneys, and blood vessels. In some children, these symptoms can be life-threatening.

Late diagnoses are common, with reported wait times of up to three years. Resulting delays in treatment have been linked to more and lasting disease activity, more tissue and organ damage, and more relapses.

The objective of this study, conducted as an online survey, was to investigate the obstacles caregivers encounter when attempting to access specialized care and treatment for children with juvenile scleroderma.
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“This information could then guide future efforts to develop effective interventions to reduce diagnostic and treatment delays,” the researchers noted.

Study targets correlations among SSc patients with different types of lung disease by Andrea Lobo, PhD 

The degree of skin tightening is associated with changed levels of proteins implicated in inflammation and cell death among systemic sclerosis (SSc) patients with pulmonary involvement, a study in India reports.

The study established protein correlations among SSc patients with different types of lung disease, which might contribute to identifying lung involvement in people with newly diagnosed SSc, the team suggested.

“A longitudinal follow up in these patients with assessment of these immunological parameters may be helpful in monitoring the disease,” the researchers wrote.

The study, “A comparative study of modulatory interaction between cytokines and apoptotic proteins among Scleroderma patients with and without pulmonary involvement,” was published in the journal Cytokine.

SSc is characterized by abnormal scarring of the skin and potentially internal organs, such as the heart, kidney, lungs, and digestive tract.

The disease is thought to develop from the combination of immune dysfunction — meaning the activation and recruitment of immune cells and the production of self-targeting antibodies (fibrosis) — and damage to small blood vessels.

The most prominent forms of lung involvement in SSc are interstitial lung disease (ILD), a group of conditions characterized by lung inflammation and fibrosis, and pulmonary arterial hypertension (PAH), caused by the narrowing of small blood vessels that transport blood to the lungs.

Studies have reported the involvement of proinflammatory and pro-fibrotic signaling molecules called cytokines in SSc. Also implicated in the disease are proteins associated with apoptosis — programmed cell death (as opposed to cell death caused by injury), which can alter immune responses.
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To investigate the possible correlation between blood cytokines and apoptotic proteins in SSc, researchers in India analyzed 100 treatment-naïve SSc patients, with or without pulmonary involvement, as well as 100 healthy people who served as controls.

Levels may serve as biomarkers for the disease, help predict outcomes by Steve Bryson, PhD 

Levels of microparticles, tiny molecule-filled sacs shed from cells, were altered in the bloodstream of adults with systemic sclerosis (SSc), a study reports.

Elevated microparticles derived from blood-clotting platelets were associated with disease-related antibodies and longer disease duration. By contrast, lower levels of microparticles shed from endothelial cells that line blood vessels were tied to worse skin and blood vessel involvement.

These results suggest microparticles may participate in developing SSc and serve as biomarkers to predict outcomes, the researchers noted in “Microparticles: potential new contributors to the pathogenesis of systemic sclerosis?” which was published in Advances in Rheumatology.

SSc, also called scleroderma, is an autoimmune disease that may affect multiple systems in the body. It’s marked by scar tissue building up in the skin and/or several organs, such as the heart, lungs, kidney, and digestive tract.

Microparticles (MPs), or microvesicles, are tiny membrane-bound sacs shed from cells undergoing activation or apoptosis (programmed cell death), which contain cell type-specific components. Mostly shed from platelets, white blood cells, and endothelial cells, MPs have been shown to modulate inflammatory and blood clotting activities.
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Studies have suggested that people with SSc have higher levels of MPs in their blood, particularly those derived from endothelial cells (EMPs) and platelets (PMPs).