Abstract
Pseudoxanthoma elasticum (PXE) is a systemic disease affecting the skin, eyes, and cardiovascular system of patients. Cardiovascular disease is associated with osteoarthritis (OA), which is the most common cause of joint pain. There is a lack of systematic investigations on joint manifestations in PXE in the literature. In this explorative study, we aimed to investigate whether patients with PXE are more at risk for developing osseous signs of OA. Patients with PXE and hospital controls with whole-body low-dose CT examinations available were included. OA was assessed using the OsteoArthritis Computed Tomography (OACT)-score, which is a 4-point Likert scale, in the acromioclavicular (AC), glenohumeral (GH), facet, hip, knee, and ankle joints. Additionally, intervertebral disc degeneration was scored. Data were analyzed using ordinal logistic regression adjusted for age, body mass index (BMI), and smoking status. In total, 106 PXE patients (age 56 (48–64), 42% males, BMI 25.3 (22.7–28.2)) and 87 hospital controls (age 55 (43–67), 46% males, BMI 26.0 (22.5–29.2)) were included. PXE patients were more likely to have a higher OA score for the AC joints (OR 2.00 (1.12–3.61)), tibiofemoral joint (OR 2.63 (1.40–5.07)), and patellofemoral joint (2.22 (1.18–4.24)). For the other joints, the prevalence and severity of OA did not differ significantly. This study suggests that patients with PXE are more likely to have structural OA of the knee and AC joints, which needs clinical confirmation in larger groups and further investigation into the mechanism.
Highlights
Pseudoxanthoma elasticum (PXE) is a systemic disease affecting the skin, eyes, and cardiovascular system of patients. It is caused by mutations in the ABCC6 gene and it is associated with low levels of inorganic pyrophosphate (PPi) [1]
The goal of the current study was to investigate whether PXE is associated with a higher prevalence of OA-related structural bone disease compared to hospital controls
We could stratify 98 patients in the PXE group based on genetic information
Summary
Pseudoxanthoma elasticum (PXE) is a systemic disease affecting the skin, eyes, and cardiovascular system of patients. It is caused by mutations in the ABCC6 gene and it is associated with low levels of inorganic pyrophosphate (PPi) [1]. In Generalized Arterial Calcification of Infancy syndrome (GACI, OMIM #208000), the complete lack of PPi results in extensive arterial calcification at birth, but calcification of the joints has been described in these children [4]. Arterial calcification due to a deficiency in CD73 (ACDC, OMIM #211800) typically results in both periarticular and arterial calcification due to the increased conversion of PPi into calcification promoting phosphate [5,6,7]. The evaluation of the joints in PXE is limited to a recent study on peri-articular calcifications around the shoulder [8]
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