Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 +/- 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 +/- 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schonlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.     

Juvenile dermatomyositis: a tertiary center experience

Juvenile dermatomyositis (JDM) is a rare chronic inflammatory disease of unknown etiology and primarily involves muscle and skin. It is the most common idiopathic inflammatory myopathy of childhood. This study aimed to evaluate demographic and clinical features, laboratory data, treatment modalities, and outcome of patients with JDM at a referral pediatric rheumatology center in Turkey. We retrospectively reviewed medical records of patients diagnosed with JDM between the years 2003–2016 at the Pediatric Rheumatology Department Cerrahpasa Medical Faculty. A total of 50 patients (35 females), median age at the onset 6.1 ± 4.1 years, were identified. Mean follow-up period was 74.5 ± 49.7 months. Presenting clinical symptoms included heliotrope rash (100%), Gottron papule (96%), muscle weakness (90%), erythroderma (88%), and calcinosis (38%). All patients had elevated muscle enzymes at the disease onset. Sixty-eight percent of the patients had anti-nuclear antibody positivity. Electromyography on 27 patients and muscle biopsy on 14 patients were performed, and all of them showed signs of juvenile dermatomyositis. Early aggressive treatment with corticosteroids mostly in combination with methotrexate was used. Cyclosporine was added to 48% of the patients’ treatment regimen in case of severe or refractory disease. All patients except two cases, who were referred to our clinic after long disease duration with widespread calcinosis, achieved remission. Early diagnosis and early initiation of intensive therapy are important in reducing JDM complications. International collaboration is needed in order to better understanding and management of the disease.     

The impact of peer victimization and psychological symptoms on quality of life in children and adolescents with systemic lupus erythematosus

There is no documentation about the association between peer victimization, psychological status, and quality of life (QOL) in children and adolescents with systemic lupus erythematosus (SLE). The aim of this study was to evaluate the association between peer victimization, psychological symptoms, and QOL in a cohort of children and adolescents with SLE. Forty-one patients (aged 9–18 years) participated in this study. The control group (n = 49) was composed of healthy children and adolescents from local community. Questionnaires were used to evaluate the peer victimization, psychological status, and QOL of children and adolescents with and without SLE. No significant difference was found between the study and control groups for peer victimization, depression, state and trait anxiety, and QOL scores. The peer victimization, depression, anxiety, and self-esteem scores were negatively correlated with psychosocial and total subscale scores of QOL in the study group. According to regression analyses, trait anxiety had a negative predictive effect on the physical health domain scores of QOL, whereas trait anxiety and peer victimization had a negative effect on the psychosocial domain and total scores of QOL in the SLE patients. This study suggests that trait anxiety and peer victimization are risk factors for poor QOL in adolescents with SLE.     

A child with primary Sjögren syndrome and a review of the literature

Primary Sj?gren syndrome (pSS) is an uncommon disease in childhood. Childhood pSS might have different clinical manifestations than adult pSS. We describe a 13-year-old girl with multiple episodes of bilateral parotid swelling lasting 2 years. Her history included severe arthralgia, local edema, and purpura episodes since 9 years of age. During her 3-week hospitalization, 2 episodes of parotid swelling occurred, which both resolved in 48 hours. Ultrasonography and magnetic resonance images of parotid glands showed parenchymal inhomogeneity related to adipose degeneration and nodular pattern. Investigations showed elevated erythrocyte sedimentation rate, the presence of hypergammaglobulinemia, positive antinuclear antibody, and elevated rheumatoid factor, anti-Sj?gren syndrome antigen A, and anti-Sj?gren syndrome antigen B. Histopathologic examination of labial minor salivary glands revealed focal periductal lymphocytic infiltrate and sialoduct ectasia. She was diagnosed as having pSS. Recurrent parotid swelling is a more characteristic feature of disease in children, and this finding should alert the clinician to the possible diagnosis of pSS.     

Progression of coronary calcification in pediatric chronic kidney disease stage 5

Coronary artery calcification (CAC) is common in adults with chronic kidney disease (CKD) and progresses with time. However, data are limited for younger patients. We have previously reported CAC in eight of 53 children with CKD. After 2 years, CAC evaluation was repeated in 48 patients. The median CAC score (CACS) increased from 101.3 (1473.6 ± 1978.6, range 8.5–4332) to 1759.2 (2236.4 ± 2463.3, range 0–5858) Agatston units (AU). When the individual changes in CACS were evaluated one by one, we showed a mild decrease in two patients on hemodialysis (HD) and in one transplant (Tx) recipient, a moderate increase in one patient on HD, one on peritoneal dialysis (PD) and one Tx recipient, and a large increase in one HD patient. Also, CAC disappeared in one HD patient. All patients with no calcification at baseline remained calcification-free at follow-up. To obtain the individual cumulative exposure, we calculated time-averaged mean values, using the laboratory values from the beginning of dialysis to the first and second multidetector spiral computed tomography (MDCT) scans (baseline and final values, respectively). Final CACS was positively related to final calcium–phosphorus (Ca×P) product, while CAC progression was inversely associated with final serum albumin level. This report is the first study with the largest number and the youngest cohort to document the natural history of coronary calcification.     

Childhood vasculitides in Turkey: a nationwide survey

Aim

The aims of this study were to evaluate the characteristics of childhood vasculitides and to establish the first registry in Turkey, an eastern Mediterranean country with a white population.

Patients and methods

A questionnaire was distributed to the main referral centers asking for the registration of the Henoch-Schönlein purpura (HSP) patients in the last calendar year only and 5 years for other vasculitides. Demographic, clinical, and laboratory data were assessed.

Results

Vasculitic diseases were registered from 15 pediatric centers. These centers had a fair representation throughout the country. In the last calendar year, incidences were as follows: HSP 81.6%, Kawasaki disease (KD) 9.0%, childhood polyarteritis nodosa (C-PAN) 5.6%, Takayasu arteritis (TA) 1.5%, Wegener’s granulomatosis 0.4%, and Behçet disease 1.9%. There was no clear gender dominance. The mean age was 11.05±4.89 years. Acute phase reactants were elevated in almost all, highest figures being in C-PAN. Renal involvement was present in 28.6% of HSP and 53% of the C-PAN patients. Abdominal aorta was involved in all TA patients. Among the C-PAN patients, 25% had microscopic PAN with necrotizing glomerulonephritis; antineutrophil cytoplasmic antibody was positive in those who were studied. Among the patients, 12.5% and 15% had classic PAN and cutaneous PAN, respectively. The remaining majority were classified as systemic C-PAN diagnosed with biopsies and/or angiograms demonstrating small to midsize artery involvement. The overall prognosis was better than reported in adult series.

Conclusion

This is the largest multicenter study defining the demographic data for childhood vasculitides. The distribution of childhood vasculitides was different in our population where KD is much less frequent, whereas HSP constitutes an overwhelming majority. C-PAN was more frequent as well.     

An evaluation of sleep habits and childhood-onset systemic lupus erythematosus

Clinical Rheumatology - Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease, known for its heterogeneous clinical presentation. Although it is rarer in children, a more severe...     

Asymptomatic SARS-CoV-2 seropositivity: patients with childhood-onset rheumatic diseases versus healthy children

Clinical Rheumatology - We aimed to find out the asymptomatic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) seroprevalence among pediatric patients with rheumatic diseases and...     

Ambulatory blood pressure and subclinical cardiovascular disease in patients with juvenile-onset systemic lupus erythematosus

Background

The aim of this study was to evaluate the presence of subclinical cardiovascular disease (CVD) and its relation to risk factors, particularly hypertension in juvenile-onset systemic lupus erythematosus (SLE).

Methods

A total of 24 patients with normal renal function were examined for subclinical CVD by using non-invasive methods, including the measurement of carotid intima-media thickness (IMT), carotid distensibility, aortic pulse wave velocity (PWV) and left ventricular mass (LVM). Blood pressure (BP) pattern and the presence of hypertension were assessed by 24-h ambulatory blood pressure monitoring (ABPM).

Results

The patients had higher aortic PWV than the controls (p?=?0.011). Increased carotid IMT was present in 48 % of the patients and reduced carotid distensibility in 17 %. Left ventricular hypertrophy (LVH) was present in 22 % of the patients. Eight patients were hypertensive; hypertensive patients had a significantly lower distensibility coefficient (DC)-SDS, higher aortic PWV and higher LVM index than the normotensive patients (p?=?0.008, p?=?0.023 and p?=?0.001, respectively). Higher carotid IMT-standard deviation score (SDS) significantly correlated with higher nighttime diastolic BP-SDS (R ²? =?0.204, p?=?0.046); lower DC-SDS correlated with higher nighttime systolic BP-SDS (R ²? =?0.290, p?=?0.014). Increased aortic PWV was significantly associated with higher daytime systolic BP-SDS and elevated erythrocyte sedimentation rate (R ²? =?0.607, p?=?0.003 and p?=?0.010, respectively). PWV was the only independent predictor of LVM index (R ²? =?0.396, p?=?0.004).

Conclusion

These results provide additional evidence for the presence of subclinical CVD and its relation to hypertension in juvenile-onset SLE. They also indicate a significant relation between LVH and increased arterial stiffness. It is also important to note that our findings reveal significant relationships between ambulatory BP and cardiovascular changes and underline the importance of ABPM to predict CVD.