Simona Caraiola

Hemochromatosis is a genetic disorder characterized by increased iron storage in various organs with progressive multisystemic damage. Despite the reports dating back to 1865, the diagnosis of hemochromatosis poses a challenge to clinicians due to its non-specific symptoms and indolent course causing significant delay in disease recognition. The key organ that is affected by iron overload is the liver, suffering from fibrosis, cirrhosis or hepatocellular carcinoma, complications that can be prevented via early diagnosis and treatment. This review aims to draw attention to the pitfalls in diagnosing hemochromatosis. We present a case with multiorgan complaints, abnormal iron markers and a consistent genetic result. We then examine the relevant literature and discuss hemochromatosis subtypes and liver involvement, including transplant outcome and treatment options. In summary, hemochromatosis remains difficult to diagnose due to its symptom heterogeneity and rarity; thus, further education for practitioners of all disciplines is useful in facilitating its early recognition and management.

This report presents the case of a female patient diagnosed with Takayasu arteritis from childhood, with severe, refractory coronary involvement, leading to two acute coronary syndromes and multiple anginous episodes. Consequently, the patient suffered aorto-bicarotid bypass two times, multiple interventional procedures with stent implantation, balloon angioplasty, and up to ten repeated in-stent restenosis that required reinterventions, despite being on maximal immunosuppressive treatment. In recent years, various studies have been reported that aim to best characterize this particular type of vascular damage and to indicate optimal therapeutic options for treatment. The latter should be based on the activity of the underlying disease; however, no reliable markers are available in TA. The management of TA patients with coronary involvement continues to be a challenge and requires both drug and interventional techniques to avoid life-threatening events.

Background: During the COVID-19 pandemic, patients with immune diseases are a vulnerable population. We aimed to evaluate their access to medical care, as well as their awareness and willingness to obtain the vaccine after a year of the SARS-CoV-2 pandemic. Methods: A cross-sectional, multicenter study was conducted on a questionnaire basis, handled both online as well as in person. Results: 651 patients with autoimmune or immune mediated diseases were enrolled. More than half (339/641 [53%]) reported difficulties in obtaining medical care throughout the pandemic and 135/651 ([21%]) of them were confirmed with COVID-19; 442/651, ([68%]) expressed their willingness to be vaccinated against SARS-CoV-2. The factors associated with an increased probability of vaccination were the male gender (OR = 2.01, CI95% 1.2–3.7, p = 0.001), the patient’s opinion that she/he was well informed (OR = 3.2, CI 95% 2.1–6.01, p < 0.001), physician’s advice (OR = 2.1, CI 95% 1.3–3.5, p < 0.001), and flu vaccination in the past (OR = 1.5, CI 95% 1.1–2.3, p < 0.001), while those associated with a decreased probability of vaccination were COVID-19 disease in the past medical history (OR = 0.7, CI 95% 0.3-0.95, p = 0.02), and the opinion that patients with autoimmune diseases are at increased risk for adverse reactions (OR = 0.7, CI95% 0.53–0.89, p = 0.001). Conclusions: Given the fact that considering themselves informed regarding vaccination is the most important factor in order to be immunized against SARS-CoV-2, effective information campaigns would substantially increase willingness.

Background: Reports describing post-vaccine autoimmune phenomena, in previously healthy individuals, increased the concerns regarding the risk of disease flare-ups in patients with immune diseases. We aimed to assess the potential risk of disease flare-up, after receiving the COVID-19 (Coronavirus disease 2019) vaccine, during a follow-up period of 6 months. Methods: We performed a prospective cohort study, enrolling the patients with autoimmune- and immune-mediated diseases who voluntarily completed our questionnaire, both online and during hospital evaluations. Based on their decision to receive the vaccine, the patients were divided into two groups (vaccinated and non-vaccinated). Participants who chose not to receive the vaccine served as a control group in terms of flare-ups. Results: A total of 623 patients, 416 vaccinated and 207 non-vaccinated, were included in the study during hospital evaluations (222/623) and after online (401/623) enrolment. There was no difference concerning the risk of flare-up between vaccinated and non-vaccinated patients (1.16, versus 1.72 flare-ups/100 patients-months, p = 0.245). The flare-ups were associated with having more than one immune disease, and with a previous flare-up during the past year. Conclusions: We did not find an increased risk of flare-up following COVID-19 vaccination in patients with autoimmune-/immune-mediated diseases, after a median follow-up of 5.9 months. According to our results, there should not be an obvious reason for vaccine hesitancy among this category of patients.

Systemic lupus erythematosus (SLE), pathology with net feminine predominance, is one of the most complex autoimmune diseases and has major impact on patients’ life. The aim is to identify patient and disease-related factors associated with self-perceived disease severity in female SLE patients. This cross-sectional study enrolled 73 women fulfilling the 2012 Systemic Lupus International Collaborating Clinic (SLICC) criteria. SLE disease activity was assessed by the Systemic Lupus Activity Measure (SLAM) score and overall damage by the SLICC/American College of Rheumatology (ACR) index. Patients’ general characteristics, associated conditions as well as SLE specific clinical involvements and therapeutic principles were also noted. Fatigue was assessed by FACIT-fatigue scale. Self-perceived disease severity was assessed using numerical rating scales (1–10 NRSs), to evaluate the disease severity at inclusion (1–10 NRS now) and worst severity anytime during disease history (1–10 NRS worst ever). In regard to worst ever lupus severity, 54.8% of patients responded with 9 or 10, while none with 1 or 2 even if only 22.9% of the patients responded with 7 or more for disease severity at inclusion (1–10 NRS now). Women with higher 1–10 NRS now answers had also higher 1–10 NRS worst ever, SLAM, SLICC, and FACIT-fatigue scores. They associated more frequently anxiety/depression diagnosis, antiphospholipid syndrome, joint involvement as well as treatments with corticosteroids. Self-reported disease severity worst ever, anxiety/depression diagnosis, fatigue, and the daily dose of corticosteroids were independently associated with patients’ perception on lupus severity at inclusion: OR (95% CI), 2.13 (1.15–3.94) p = 0.017, 6.67 (1.11–39.97) p = 0.038, 1.10 (1.02–1.19) p = 0.018, and 1.11 (1.02–1.21) p = 0.020, respectively. The vast majority of patients identified severe and very severe events during their disease history, results that raise awareness of burden concerning lupus occurrence in women’s life. Self-perceived lupus severity is multifactorial, influenced also by factors less considered in the SLE management like fatigue and the depression/anxiety disorders, but also by the previous patient’s experience.

Introduction. Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of unknown origins with increasing prevalence worldwide. Lupus clinical and immunological features are complex and heterogeneous, but peculiar characteristics in different population were described. Aim. Description of specific clinical and biological features of SLE patients. Methods. 134 patients fulfilling the 2012 SLE Systemic Lupus International Collaborating Clinic criteria were enrolled. Baseline characteristics and biological features (such as sex, age, age at disease onset, disease duration, tobacco and alcohol habits, cardiovascular and fracture risk factors) were collected in all consenting patients prospectively included. Also, disease activity scores such as Systemic Lupus Activity Measure (SLAM), European Consensus Lupus Activity Measurement, Systemic Lupus Erythematosus Disease Activity Index, and accrual damage Systemic Lupus International Collaborating Clinics/American College of Rheumatology index were assessed when data needed for these scores were available. Results. A number of 134 SLE patients, majority of feminine sex (89.6%) were enrolled. The mean ± SD age at inclusion and onset age were 46.4 ± 12.9 years and 36.5 ± 12.2 years. 19.4% of patients included were current smokers. Regarding comorbidities, 8.5% associated diabetes and 41.8% hypertension. Anti-deoxyribonucleic acid antibodies were identified in the antecedents of only 50.4% of the searched cases; higher proportion of positivity was found for lupus anticoagulant, respectively 70.9%. Joint involvement was the most frequent clinical criterion used to sustain the lupus diagnosis (110 patients, 82.1%), while the hematological one the most frequent involvement at inclusion (50 patients, 37.3%). 67.9% of patients presented SLAM score results less or equal to 5 points, 10.4% results between 5 and 8 points, and 21.6% of more or equal to 8 points. The majority of patients enrolled were under corticosteroid treatment (109 patients, 81.3%) and also an important part was receiving Hydroxychloroquine (108 patients, 80.6%). Conclusion. In this cross-sectional study, we presented important data related to general characteristics, biological parameters, immunological features, disease scores, and treatment principles in a single-center sample of SLE patients.

A tenth of patients with involuntary weight loss (IWL) have gastrointestinal cancer. Ferritin is the first parameter to be modified during the process leading to iron deficiency anaemia, therefore it should be the most sensitive. The aim of this study was to assess the ability of ferritin to rule out gastrointestinal cancer in patients with involuntary weight loss.