Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare disease (OMIM #604416) that mainly affects the joints and skin and is caused by an autosomal dominant mutation of the Proline-Serine-Threonine Phosphatase-interacting Protein 1 (PSTPIP1). Studies have shown that the response to anti-IL-1 agents, such as anakinra, is variable, with anakinra exhibiting better effectiveness for joint manifestations than for cutaneous involvement. Instead, anti- tumor necrosis factor alpha (TNF) treatment is more effective in the treatment and prevention of pyoderma gangrenosum lesions. Here, we describe four cases of clinically suspected PAPA syndrome in patients from the same family, who were treated empirically with initial corticosteroid therapy combined with methotrexate to improve joint symptoms. The results were promising in terms of both efficacy and tolerance. We concluded that while biologics remain the ideal therapeutic option, methotrexate is an accessible and well-tolerated alternative that can offer significant clinical improvement in joint involvement, especially in early or mild cases. Further studies are needed to better define its place in the therapeutic arsenal for PAPA syndrome.
Objectives To evaluate the association between fibromyalgia and multidimensional patient-reported symptom burden measured by PROMIS in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), and to compare these associations with those observed for disease activity. Methods In this cross-sectional study, 201 patients (RA n = 100; SLE n = 101) completed PROMIS short-form instruments assessing physical function, pain intensity, pain interference, fatigue, sleep disturbance, anxiety, and depression. Fibromyalgia was ascertained using the 2016 ACR Fibromyalgia Diagnostic Criteria. Disease activity was evaluated using the 28-joint Disease Activity Score (DAS28-ESR) in RA and the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2 K) in SLE. Multivariable linear regression models were used to assess independent associations. Results PROMIS profiles were largely comparable between RA and SLE, with SLE demonstrating better physical function (35.8 ± 7.9 vs 32.1 ± 6.7, p < 0.001). In both diseases, the presence of fibromyalgia was associated with significantly worse PROMIS scores across most domains. In adjusted models, fibromyalgia remained independently associated with higher pain intensity (RA β = 5.19, p < 0.001; SLE β = 6.31, p < 0.001), greater fatigue (RA β = 6.94, p < 0.001; SLE β = 7.50, p < 0.001), higher anxiety (RA β = 5.25, p = 0.007; SLE β = 6.24, p = 0.01), and higher depression scores (RA β = 6.79, p < 0.001; SLE β = 6.61, p = 0.009). Fibromyalgia was also independently associated with poorer physical function in both diseases (RA β = −3.06, p = 0.012; SLE β = −5.99, p < 0.001). Associations were consistent across domains and of greater magnitude than those observed for disease activity. Conclusion Fibromyalgia was independently associated with substantially worse multidimensional PROMIS outcomes in both RA and SLE, stronger associations than disease activity across several PROMIS domains.
Background The hemoglobin, albumin, lymphocyte, and platelet (HALP) score is a biomarker reflecting systemic inflammation and immunonutritional status. This study aimed to investigate the relationship between HALP score and disease activity in patients with ankylosing spondylitis (AS) and compare its performance with inflammatory markers. Methods This retrospective cross-sectional study included 105 patients with AS and 93 age- and sex-matched healthy controls. Disease activity was assessed using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Ankylosing Spondylitis Disease Activity Score based on C-reactive protein (ASDAS-CRP). HALP score was calculated from hemoglobin, albumin, lymphocyte, and platelet values. Correlation, logistic regression, and receiver operating characteristic (ROC) analyses evaluated the association between HALP and disease activity. Results The HALP score was significantly lower in patients with AS than in healthy controls (p=0.002) and decreased across increasing ASDAS-CRP activity groups (p<0.001). HALP demonstrated an AUC of 0.768 (95% CI: 0.667–0.869) for ASDAS-CRP-defined activity and 0.723 (95% CI: 0.623–0.823) for BASDAI-defined activity. In multivariable analyses, HALP remained significantly associated with active disease using both ASDAS-CRP (OR=0.958, 95% CI: 0.932–0.983, p=0.001) and BASDAI (OR=0.962, 95% CI: 0.941–0.984, p=0.001). Conclusion HALP may serve as an objective and inexpensive biomarker associated with disease activity in AS. The consistent associations observed using both ASDAS-CRP and BASDAI support its potential clinical utility, although further studies are needed to validate these findings.
