Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association

Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. However, a rare subset of systemic sclerosis, systemic sclerosis sine scleroderma, is characterized by internal organ involvement and positive serologic markers with the total or partial absence of cutaneous manifestations. We present a rare association of osteopetrosis in a case of systemic sclerosis sine scleroderma, in a 22-year-old male patient, who presented with pulmonary symptoms as his chief complaints, unreported so far in literature.

The mildly decreased preoperative bilirubin level is a risk factor for periprosthetic joint infection after total hip and knee arthroplasty

Background Many serologic markers are routinely tested prior to joint arthroplasty, but only few are commonly used to guide surgeons in determining patients most at risk of periprosthetic joint infection (PJI). The objective of this study was to investigate the association between preoperative bilirubin level and PJI after primary hip and knee arthroplasty. Methods A retrospective analysis was performed on patients undergoing revision hip and knee arthroplasty at our hospital from January 2016 to December 2019. Laboratory biomarkers were collected before the primary arthroplasty, as well as general patient information. The association between the above serologic markers and postoperative PJI was analyzed. Results A total of 72 patients (30 hips/42 knees) were analyzed, including 39 patients with PJI and 33 patients without PJI. Except for total bilirubin (TB) and direct bilirubin (DB), there was no significant difference between the remaining laboratory biomarkers. The preoperative TB and DB in the PJI group were 10.84 ± 0.61 μmol/L and 3.07 ± 0.19 μmol/L, respectively, which were lower than those in the non-PJI group (14.68 ± 0.75 μmol/L and 4.70 ± 0.39 μmol/L, P < 0.001). The area under the curve (AUC) of preoperative TB to predict PJI was 0.755 (P < 0.001, cutoff = 11.55 μmol/L, sensitivity = 66.67%, specificity = 75.76%). Meanwhile, the AUC of preoperative DB was 0.760 (P < 0.001, cutoff = 4.00 μmol/L, sensitivity = 84.62%, specificity = 54.45%). Conclusions The serum levels of TB and DB before the primary arthroplasty were lower in PJI patients than in non-PJI patients, and the preoperative values lower than 11.55 μmol/L and 4.00 μmol/L could be considered as a risk factor for postoperative PJI.

518 - AUTOIMMUNE DEMENTIA – WHEN TO SUSPECT?

Background:Autoimune dementias are underrecognized clinical entities, frequently misdiagnosed as neurodegenerative or prion disorders. However, the prognosis is vastly different since immunotherapy can treat these conditions and restore functionality.Research objective:To reflect on autoimmune dementias, briefly presenting the autoimmune syndromes, how to diagnose them and some clinical cues to be attentive of.Methods:Literature search on Pubmed and Google Scholar.Results:The incidence and prevalence of autoimmune dementias are unknown, but autoimmune and inflammatory causes account for 20% of dementia in patients younger than 45 years of age.Autoimmune dementias are classified according to syndromic presentation, specific serologic markers, or histopathologic findings.Patients with autoimmune dementias usually present with an acute or subacute disorder of memory, thinking, or behaviour. Clinical clues that can help clinicians identify autoimmune dementias include six of the following: (i) rapidly progressive or fluctuating course; (ii) multifocal and diverse clinical presentations; (iii) personal or family history of autoimmunity; (iv) detection of inflammatory markers in the cerebrospinal fluid; (v) presence of a neural-specific autoantibody and (vi) favourable response to a trial of immunotherapy. Also, unsuspected cancer, new or recurrent, may manifest neurologically as autoimmune dementia.In evaluating patients with dementia and autoimmune disease, clinicians should be aware of the possible coexistence of these disorders.Conclusions:Recognition of clinical and serologic clues to autoimmune dementia allows early and sustained treatment. Misdiagnosis of a potentially reversible condition as a progressive neurodegenerative disorder can have devastating consequences for the patient and family.

HbA1c and FIB-4 as Serologic Markers for the Risk of Progression of Stage A Heart Failure

Background The classic association of glycemic control as represented by glycosylated hemoglobin (Glyco% or HbA1c) with progression of micro and macro vascular clinical complications is well documented. However use of the advanced glycation end product (AGE) axis as a marker for early diastolic hemodynamic changes leading to clinical heart failure has been suggested but is less well characterized. This study explored the association between elevated Glyco% and Fibrosis 4 (FIB-4 a 4-component marker for liver fibrosis) values and worsening measures of diastolic cardiac function in order to assess their utility as early serologic markers in cardiovascular disease prevention. Methods and Results A Retrospective cohort analysis was conducted in 102 patients presenting to the Parkview Medical Center health system who had received a full resting echo characterized by normal systolic ejection fraction and clinical risk factors associated with stage A heart failure in conjunction with Glyco% and FIB-4 scores all within a 3-month time window. Using regression analysis measures of diastolic cardiac function were assessed in conjunction with rising Glyco% levels characterized as <6.5 and > 6.5 and FIB-4 scores after controlling for the presence of hypertension coronary artery disease and valvular heart disease. Glyco% levels > 6.5 were significantly associated with a higher E/e ratio and closely associated with an elevated left atrial volume index both indicative of elevated left atrial pressure as a sensitive marker for diastolic cardiac dysfunction. FIB-4 scores did not appear to be clinically associated with progression of diastolic dysfunction. Conclusions Glyco% long known to be a marker for metabolic glycemic control can also act as an early marker for identifying patients at increased risk for the progression of stage A heart failure. FIB-4 scores cannot.

Systemic lupus erythematosus multiorgan flare with quiescent serologic markers

Systemic lupus erythematosus (SLE) can affect almost every organ with differing degrees of severity. Typically, SLE activity is associated with hypocomplimentaemia and elevated double-stranded DNA (dsDNA) levels. We describe a case of a severe multiorgan lupus flare including lupus cerebritis, autoimmune haemolytic anaemia, lupus nephritis and lupus myopericarditis with normal complement and dsDNA levels. This highlights the importance of understanding the heterogeneous nature of SLE flares.