Coexistence of IgG4-related disease and ANCA-associated vasculitis: case report and review of the literature.

IgG4-related disease (IgG4-RD) is a fibroinflammatory condition that is characterized by storiform fibrosis, infiltration of IgG4-positive lymphocytes, obliterative phlebitis, and high IgG4 levels. Since IgG4-RD affects a wide variety of organs, a differential diagnosis must include multiple conditions. IgG4-RD is also believed to coexist with certain diseases. In recent years, case reports and case series describing the co-occurrence of IgG4-RD and ANCA-associated vasculitis (AAV) have been published. We intended to evaluate patients with IgG4-RD and AAV overlap in the literature using a case similar to one that was diagnosed and monitored in our department. We searched the databases of Web of Science, Scopus, and Google Scholar as well as PubMed with the keywords ANCA, IgG4, IgG4-RD, granulomatosis with polyangiitis, Wegener's granulomatosis, microscopic polyangiitis, Eosinophilic granulomatosis with polyangiitis, and Churg-Strauss syndrome. Cases and Case series addressing the coexistence of IgG4-RD and AAV have been selected. Comprehensive diagnostic criteria are used to diagnose IgG4-RD. The Chapel Hill Consensus Conference nomenclature criteria were used for the inclusion of AAV. Out of a total of 910 publications, 20 articles, including 65 cases, were found to be eligible. Forty-seven cases with IgG4-RD were evaluated as definitive (71.2%), 10 cases as probable (15.1%), and 9 cases as possible IgG4-RD (13.6%). 26 patients were diagnosed with GPA, 1 patient with localized GPA, 23 patients with MPA, and 4 patients with EGPA. The aorta, lacrimal tissue, pancreas, and retroperitoneum are the sites of IgG4-RD rather than AAV. AAV and IgG4-RD might coexist in the same patient. IgG4-RD is mainly associated with GPA.

Poor obstetric outcomes in women with takayasu arteritis: a retrospective cohort study.

The objective of this study was to assess the pregnancy outcomes in a cohort of patients who experienced pregnancies before and/or after being diagnosed with Takayasu's arteritis (TA). The present investigation encompassed a total of 88 pregnancies seen in a cohort of 35 patients who met the criteria outlined by the American College of Rheumatology in 1990 for the classification of Takayasu arteritis (TA). Pregnancies were classified into two categories. 1. Pregnancies that occurred before the diagnosis (pre-d or pre-TA) 2. Pregnancies that happened following a diagnosis (post-d or post-TA). Fifty-nine pregnancies (67.0%) occurred in 21 TA patients before the diagnosis with and a complication rate of 15.2%, and twenty-nine pregnancies (33.0%) occurred in 14 patients concomitant with or after TA diagnosis and complication rate 100%. Although the hypertension rate was higher in the pre-d group than in the post-d group, it was not significant (32.2% vs. 10.3%, p = 0.160). However, preeclampsia (20.6% vs. 0%, p = 0.001), low birth weight (27.5% vs. 1.6%, p = 0.001), and prematurity (24.1% vs. 1.6%, p = 0.035) were observed more frequently in the post-d group compared to the pre-d group. The frequency of abortions and in-utero deaths were similar in both groups (p > 0.05). Patients with hypertension had significantly higher rates of preeclampsia (p = 0.003), preterm birth (p = 0.036), low birth weight (p = 0.250), abortion (p = 0.018), in utero death (p = 0.128), and cesarean section (p = 0.005) than those without hypertension. Renal artery involvement was detected in 15 (42.8%) patients. All patients with renal artery involvement had hypertension, and they had significantly more pregnancy complications than the other group (p = 0.001). TA negatively affects pregnancy outcomes. A good control of arterial hypertension before conception and during pregnancy is critical to improve both maternal and fetal outcomes. In addition, detecting renal artery stenosis before pregnancy is important in reducing possible negative pregnancy outcomes.

Evaluation of the frequency and risk factors of spontaneous intramuscular hemorrhage associated with dermatomyositis.

Dermatomyositis (DM) is an idiopathic inflammatory myositis (IIM) characterized by skin manifestations and muscle involvement. Spontaneous intramuscular hemorrhage (SIH) is a fatal complication that is very rare in the course of DM, but not well known to rheumatologists. Our aim was to determine the frequency and possible risk factors of DM-related SIH. A retrospective analysis was conducted on a cohort of DM patients who were observed in the rheumatology department of the university hospital between 1998 and January 2024. The clinical, laboratory, radiological data of the patients and the treatments they received during the follow-up were analyzed. To determine possible risk factors for the development of SIH in the course of DM, our patients with DM were analyzed together with other rare SIH cases in the literature. The study included 42 of our DM patients. 32 of the patients (76.2%) were female. The median age of the patients was 53 (24-82) years, the median age of DM diagnosis of the patients was 47 (18-75) years, and the median duration of DM of the patients was 36 (2-276) months. 7.1% of patients had dysphagia, and 16.7% had intertitial lung disease (ILD). 5 (11.9%) patients were diagnosed with malignancy. The incidence rate of SIH development in our DM cohort was 0.238/100 patient years (95% CI 0.006-1.256). We tried to identify independent risk factors for SIH development by comparing our 41 DM patients without SIH with the data of patients with 23 DM-related SIH collected from the literature by adding our 1 patient (24 pts). Male sex (OR 4.97, 95% CI 1.66-14.92, p = 0.003), ILD presence (OR 9.71, 95% CI 2.99-31.47, p < 0.001), anti-MDA5 positivity (OR 16.0, 95% CI 1.60-159.3, p = 0.006), anti-Ro52 positivity (OR 11.6, 95% CI 2.93-46.34, p < 0.001), heparin use (OR 4.42, 95% CI 2.68-7.24, p < 0.001), intravenous immunoglobulin (IVIG) use (OR 11.7, 95% CI 2.26-60.54, p < 0.001), and steroid dose (OR 1.03, 95% CI 1.00-1.05, p = 0.005) were identified as risk factors for the development of SIH in the univariate analysis. The death rate due to hemorrhage was 50%. No single risk factor was found to be associated with death. As a result, SIH may occasionally arise in patients with DM. Rheumatologists should be aware that patients with dysphagia and/or ILD, who are on heparin, getting high doses of steroids, and test positive for anti-MDA5 and/or anti-Ro52 antibodies may develop SIH in the early stages of DM.

Effect of Humor on Pain and Anxiety in Patients With Rheumatoid Arthritis: A Prospective, Randomized Controlled Study.

Humor can contribute to nursing practices for relieving pain and anxiety in patients with rheumatoid arthritis (RA) during intravenous (IV) biologic treatment. This study used a prospective, randomized controlled study design to investigate the effect of humor on pain and state anxiety in patients with RA receiving IV infusion therapy. Two sample groups were formed: the intervention group (watching a comedy movie) (n = 18) and the control group (usual care) (n = 18). Both groups received IV biologic therapy. A significant difference was found between the groups' pain mean scores, but the effect size was small (P < .001, η² = 0.032). The mean visual analog scale scores decreased in both groups after the treatment; however, it decreased more in the intervention group (P < .001, Md = 2.44) than in the control group (P = .017, Md = 0.83). No significant difference was found between the groups' mean state anxiety scores, and the effect size was irrelevant (P > .05, η² = 0.001). There was a significant decrease in the anxiety levels of both groups (P < .001). During IV biologic infusion therapy, watching comedy movies is recommended as a nursing care intervention for reducing pain in patients with RA in cooperation with other health professionals.

Evaluation and Differential Diagnosis of Hypereosinophilia in Rheumatology Practice.

BACKGROUND: There has been no investigation so far on the prevalence or causes of hypereosinophilia during rheumatic diseases. OBJECTIVES: The study aimed to identify the prevalence and causes of hypereosinophilia among the patients followed in a rheumatology department. METHODS: The patients aged 18 years or over followed in our rheumatology department between January 2010 and December 2019 who had at least one AEC ≥1,500/µL measurement in their peripheral blood count were identified retrospectively. RESULTS: Over the 10 years, a total of 130,769 peripheral blood counts were performed, of which 3.9% showed eosinophilia and 0.065% showed hypereosinophilia. Hypereosinophilia was identified in 85 patients. The underlying rheumatic disease was determined in 89.4% (n = 76) of patients. Of these, the most frequent one was rheumatoid arthritis at a ratio of 40.8%, followed by eosinophilic granulomatosis with polyangiitis (EGPA) at a ratio of 10.5%. Hypereosinophilia was in primary form in 3.5% of the patients, whereas secondary to another condition in 91.8% (n = 78) of the cases and idiopathic in 4.7% (n = 4) of patients. The most common cause of secondary hypereosinophilia was drug induced, as detected in 61.2%, followed by allergic conditions in 11.5% and EGPA in 9.4%. In 15.2% (n = 13) of the cases, hypereosinophilia was associated with an underlying rheumatic disease. In the cases with drug-induced hypereosinophilia, most often (in 28.8%) methotrexate was the offending agent. CONCLUSIONS: Rheumatologists should be cognizant that hypereosinophilia concurrent to rheumatic diseases is usually not due to the underlying rheumatic disease, except for the conventional eosinophil-related rheumatic diseases.

Investigation of the relationship of CO-RADS and CT patterns with laboratory parameters in COVID-19 patients and a new perspective on the total CT scoring system.

BACKGROUND: It is important to determine the correlation of the CO-RADS classification and computed tomography (CT) patterns of the lung with laboratory data. To investigate the relationship of CO-RADS categories and CT patterns with laboratory data in patients with a positive RT-PCR test. We also developed a structured total CT scoring system and investigated its correlation with the total CT scoring system. METHOD: The CT examinations of the patients were evaluated in terms of the CO-RADS classification, pattern groups and total CT score. Structured total CT score values were obtained by including the total CT score values and pattern values in a regression analysis. The CT data were compared according to the laboratory data. RESULTS: A total of 198 patients were evaluated. There were significant differences between the CO-RADS groups in terms of age, ICU transfer, oxygen saturation, creatinine, LDH, D-dimer, high-sensitivity cardiac troponin-T (hs-TnT), CRP, structured total CT score values, and total CT score values. A significant difference was also observed between the CT pattern groups and oxygen saturation, creatinine and CRP values. When the structured total CT score values and total CT score values were compared they were observed to be correlated. CONCLUSIONS: Creatinine can be considered as an important marker for the CO-RADS and pattern classifications in lung involvement. LDH can be considered as an important marker of parenchymal involvement, especially bilateral and diffuse involvement. The structured total CT scoring system is a new system that can be used as an alternative.

Age-related immunosenescence in Behçet's disease.

Behçet's disease (BD) is a systemic vasculitis of unknown etiology causing recurrent mucocutaneous lesions, ocular involvement, central nervous system involvement, and vascular involvement. The disease is characterized by exacerbations and spontaneous remissions. Prognosis is poor in young men when the vessels are involved. The course is more active and severe in the first years of the disease. One of the most interesting features of BD is that the disease changes to a state of low activity and remission over time. Although the association between aging and lower disease activity is well established, there is limited literature data and research investigating the cause. Similarly, there are not many studies on the late onset of BD and its characteristics. In this regard, understanding the cause of the decline in disease activity over time may open new avenues for pathogenesis and treatment research. In this review, we focus on the immunosenescence caused by chronic inflammation and aging in BD. Based on the effect of testosterone on innate immune cells, we also briefly discussed the potential effects of this hormone on vascular involvement.

Familial coexistence of demyelinating diseases and familial Mediterranean fever.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. Gain of the function mutations of the pyrin gene lead to stimulation of pro-inflammatory cytokines. Persistent pro-inflammatory situation in the course of FMF may play a role in the development of some other inflammatory diseases such as Behcet's disease, psoriasis, and vasculitis. Multiple sclerosis (MS), as a demyelinating disorder, is also more commonly seen in FMF patients compared to the general population. There are scarcely any research reporting that these two diseases coexist in more than one person in the same family. We have discovered cases of FMF and demyelinating disorders in five members of two different families. Besides the two families we are reporting, there are only four other families reported so far. Having combined the data of all these six families, we present a case-based review in this study. We aimed to draw attention of physicians to familial co-occurence of FMF and demyelinating disorders and also to discuss possible mechanisms of the coexistence of these two diseases in light of the literature.

Hypercalcemia in IgG4-related disease: coincidental or associated? Case based review.

Immunoglobulin (Ig) G4-related disease (IgG4RD) is a chronic autoimmune disorder characterized by dense lymphoplasmacytic infiltrations and fibrosis of storiform pattern. The most typical manifestations include major salivary or lacrimal gland involvement, autoimmune pancreatitis, and retroperitoneal fibrosis. While the increase in IgG4 is the typical feature of the disease, hypercalcemia has been rarely reported in IgG4RD so far, only one of these cases has been shown parathyroid gland involvement (isolated involvement). In this study, we present a 43-year-old female patient with weight loss, pancreatic mass, lymphadenopathy, nodular lesion in the lung, hypercalcemia, and also increased level of serum IgG4. Histopathological investigation following parathyroidectomy revealed a dense lymphoplasmacytic infiltrate with an IgG4 to IgG ratio of > 50% in the fat tissue surrounding the parathyroid gland, particularly at the perivascular areas. This is the first systemic IgG4RD case in combination with hypercalcemia in the literature who was detected to have parathyroid adenoma. Our aim in this review is to emphasize that, although rarely, IgG4RD may be accompanied by hypercalcemia and parathyroid gland may be one of its target sites.

Effects of Lead on Reproduction Physiology and Liver and Gonad Histology of Male Cyprinus carpio.

Sera 17ß-estradiol (E2), 11-ketotesteron (11-KT) and 17,20-ß-dihydroxy-4-pregnen-3-one (17,20ßP) levels and hepatosomatic-gonadosomatic indexes (HSI-GSI) were determined after exposing male C. carpio to 0.13 and 0.26 mg L-1 lead after 7, 14 and 21 days. Histological changes in liver and gonad tissues of male C. carpio were also determined. Sera E2, 11-KT and 17,20ßP levels of male fish although showed differences from the control fish, these differences were not statistically significant. This was also true for the HSI values, the GSI values however, decreased on day 7 under the effect of 0.26 mg L-1 Pb. Dilatation in bile duct and sinusoids and lymphocyte infiltration were observed under histopathological examination. Low intensities of fibrosis were detected in testis tissues. Exposure to low concentrations of Pb did not cause endocrine disrupting and extensive histopathologic effects in C. carpio at the exposure periods tested.

Temporal artery biopsy for suspected giant cell arteritis: a retrospective analysis.

Temporal artery biopsy (TAB) is one of the diagnostic criteria of giant cell arteritis (GCA) according to 1990 ACR criteria and remains a tool for diagnosis. Although clinicians perform TAB with an intent to confirm suspected GCA, some biopsies result in negative and some lead to non-GCA diagnoses. We aim to review the diagnoses after TAB biopsy performed for suspected GCA and also wanted to evaluate the diagnostic changes and concomitant diseases that develop over time. The patients who had undergone TAB for suspected GCA were identified using the record entry code for TAB. Patients meeting the classification criteria for GCA were designated as the GCA group and not meeting criteria were designated as a non-GCA group. Other classification criteria were implemented for the non-GCA group diseases. A total of 51 patients (Female: 62.7%, median age: 72.1 ± 7.4 years) who had undergone TAB for suspected GCA were evaluated. TAB was positive in 23 (69.6%) of the 33 patients who met the GCA classification criteria. No significant difference was found between TAB-positive and TAB-negative GCA patients in terms of clinical and laboratory parameters. In the non-GCA group, 12 patients had isolated polymyalgia rheumatica (PMR), and the diagnoses of the remaining six patients were as follows: four large vessel vasculitis (LVV) not satisfying GCA diagnostic criteria, one chronic myelomonocytic leukemia (CMML), and one amyloidosis. TAB was negative in all patients with isolated PMR. TAB showed primary amyloidosis in one patient. Out of 33 GCA patients, 21 had "isolated" GCA, four had GCA + Rheumatoid arthritis (RA), seven had GCA + PMR, and one had GCA + polymyositis. RA was diagnosed antecedent to GCA in two patients, and after GCA in the other two patients. One of the patients had developed GCA 20 years after polymyositis had been diagnosed. TAB was found to be positive in two-thirds of patients with suspected GCA. Late-onset RA and rarely other inflammatory rheumatic diseases may develop in the course of GCA.

Evaluation of hyperferritinemia causes in rheumatology practice: a retrospective, single-center experience.

Hyperferritinemia may develop due to various reasons such as inflammation, infection, or malignancy. The purpose of the study to explore the prevalence and to figure out the causes of general hyperferritinemia and extreme hyperferritinemia as detected through the ferritin measurements requested by the rheumatology department. Adult patients at the age of 18 years and older with at least one serum ferritin level measurement at or above 500 ng/mL as requested by the rheumatology department between January 2010 and December 2019 were evaluated retrospectively. Hyperferritinemia was detected in 4.7% of 11,498 serum ferritin tests. The mean age of 242 patients found to have hyperferritinemia was 53.7 ± 17.1 years; of the patients, 63.2% were female, and the mean serum ferritin value was 2820 ± 5080 ng/mL. The most common cause of hyperferritinemia was rheumatological diseases with a ratio of 59.1%, which was followed by infections, iron overload, and solid malignancy. Among the rheumatologic diseases, adult-onset Still's disease (AOSD), rheumatoid arthritis, and vasculitis were the cause accounting for hyperferritinemia. Ferritin levels were significantly higher in the AOSD group compared to the other rheumatologic disease groups (p < 0.0001). While extreme hyperferritinemia (ferritin ≥ 10,000 ng/mL) rate in our cohort was 0.2%, the most common cause was AOSD (15/17). In patients with hyperferritinemia, 3 month mortality was found to be 8.7%. CRP level was identified as the only independent predictor for the 3 month mortality in all patients [OR 1.088 (95% CI 1.004-1.178), p = 0.039]. Although rheumatologic disease activation and infections are the most common causes, the other causes should also be considered for the differential diagnosis.

Menorrhagia due to uterine amyloidosis in familial Mediterranean fever: case-based review.

Amyloidosis is described by the deposition of misfolded proteins in the tissues. Amyloidoses are classified into two as systemic and localized. Out of the systemic forms, AL (light chain) amyloidosis is the most prevalent type; however, amyloid A (AA) amyloidosis is more frequently encountered in the rheumatology practice. AA amyloidosis stands out as a major complication of familial Mediterranean fever (FMF). Splenic and renal involvement is more likely in FMF-associated systemic amyloidosis. The involvement of thyroid and adrenal glands has also been described, although infrequently. Amyloidoses have a heterogeneous plethora of clinical manifestations, with certain phenotypes associated with specific amyloid forms. Gynecological amyloidosis is a rare condition. Uterine involvement may occur in a localized fashion or may also arise as a part of systemic involvement, albeit at a lesser ratio. Several cases of uterine AL amyloidosis have been documented so far as an organ involvement in systemic AL amyloidosis. On the other hand, uterine amyloidosis associated with AA amyloidosis has been described merely in one case with rheumatoid arthritis (RA). Here, we presented a 40-year-old female patient with FMF known for 38 years who underwent splenectomy and hysterectomy due to massive splenomegaly, deep anemia, and persistent menometrorrhagia. Histological examinations of materials revealed uterine and splenic AA amyloidosis. This case report is first-of-its-kind to describe FMF-associated uterine AA amyloidosis and also provides a discussion of possible mechanisms of amyloidosis-induced uterine bleeding.

Aseptic meningitis in rheumatoid arthritis after anti-TNF administration: a case-based literature review.

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by articular and extra-articular manifestations. Among extra-articular involvement, rheumatoid meningitis (RM) is a rare condition, which may exhibit variable symptoms including headache, focal and/or generalized neurologic deficits. It may develop as the preceding manifestation of RA or occur at any time of the disease course. Some drugs used for the treatment of RA may give rise to aseptic meningitis or create a tendency to infectious meningitis due to their immunosuppressive effect. All these possibilities may lead to difficulties in the differential diagnosis. Achieving a diagnosis in a short time is crucial in terms of prognosis. Here, we would like to report a case with longstanding RA manifested by left-sided weakness and seizure shortly after initiating etanercept (ETA) therapy. ETA-induced meningitis was confirmed with appropriate diagnostic tools. Our aim with this case-based review is to attract the attention of this rare condition and discuss diagnostic challenges.

The coexistence of IgA vasculitis and tuberculosis: a case-based review.

Immunoglobulin (Ig) A vasculitis (IgAV), formerly known as Henoch-Schonlein purpura (HSP), is a relatively uncommon form of vasculitis primarily targeting the skin, gastrointestinal system, and the kidneys. Although the pathogenesis has not yet been well identified, several triggering factors, such as infections, drugs, have been implicated in the development of IgAV. Tuberculosis (TB), albeit rare, may precipitate IgAV. Herein, we have presented a case manifested by purpuric skin rash and proteinuria 6 weeks following diagnosis of pulmonary tuberculosis while receiving anti-TB drugs. The case was diagnosed as having active tuberculosis and TB-related IgA vasculitis with multi-organ involvement. In this case-based review, we recruited cases with TB-related Ig A vasculitis from the literature and discussed the features of tuberculosis that mimic vasculitides and vice versa. We also discussed the difficulties in diagnosis and the therapeutic approach in the light of the literature.

Familial Mediterranean fever: the molecular pathways from stress exposure to attacks.

FMF is an autoinflammatory disease characterized by recurrent attacks and increased IL-1 synthesis owing to activation of the pyrin inflammasome. Although knowledge of the mechanisms leading to the activation of pyrin inflammasome is increasing, it is still unknown why the disease is characterized by attack. The emergence of FMF attacks after emotional stress and the induction of attacks with metaraminol in previous decades suggested that stress-induced sympathoadrenal system activation might play a role in inflammasome activation and triggering attacks. In this review, we will review the possible molecular mechanism of stress mediators on the inflammation pathway and inflammasome activation. Studies on stress mediators and their impact on inflammation pathways will provide a better understanding of stress-related exacerbation mechanisms in both autoinflammatory and autoimmune diseases. This review provides a new perspective on this subject and will contribute to new studies.

Hyperkalemia in type 4 renal tubular acidosis associated with systemic lupus erythematosus.

Renal tubular acidosis (RTA) is a normal anion gap metabolic acidosis that manifests with insufficiency of hydrogen ion excretion or bicarbonate (HCO3) reuptake as a result of renal tubular dysfunction independent of glomerular filtration rate. Hypokalemic RTA subtypes co-existing with autoimmune diseases particularly appear in Sjogren's syndrome, but rarely in systemic lupus erythematosus (SLE). Type 4 RTA associated with hyperkalemia is very rare during the course of SLE and hence has been scarcely reported in the literature. Here, we report a 42-year-old patient for whom regular follow-up was ongoing due to class IV lupus nephritis when she developed hyperkalemia. The patient had normal anion gap hyperkalemic metabolic acidosis and her urine pH was 5.5. Type 4 RTA was considered and, therefore, tests for renin and aldosterone levels were requested, which revealed that renin was suppressed and aldosterone was decreased. Upon diagnosis of SLE-associated type 4 RTA, short-term oral HCO3 and fludrocortisone were initiated. Potassium (K) and HCO3 levels improved at day 15 of therapy. In this review, we analyzed our case along with five other reports (a total of seven cases) of SLE-associated type 4 RTA we identified through a literature search. We wanted to highlight RTA for differential diagnosis of hyperkalemia emerging during SLE/lupus nephritis and we also discussed possible underlying mechanisms.

The influence of genotype on disease severity and concomitant diseases in familial Mediterranean fever patients.

OBJECTIVES: To evaluate differences between the patients with familial Mediterranean fever (FMF) with homozygous (Hom), heterozygous (Het) and compound heterozygous (cHet) MEFV mutations in terms of clinical features and severity of the disease, as well as frequency of concomitant disorders, without focusing on Exon 10 mutations. METHODS: The patients with FMF were diagnosed using the Tel-Hashomer diagnostic criteria. The presence of MEFV mutations was investigated in exons 2,3,5 and 10 by multiplex-PCR reverse hybridisation method. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively. RESULTS: 259 unrelated patients (female: 143, male: 116; mean age: 33.5±12 years) were included in this study. Hom and Het mutations were found in 79 (31.9%) and 88 (35.6%) patients with FMF, respectively. cHet mutations were found in 68 (27.5%) FMF patients. Early onset and early diagnosis of FMF were found in Hom group compared to Het and compound Het groups. The number of the patients with a higher severity score was significantly higher in Hom group (n=40, 50.6%) than Het (n=12, 13.6%) and cHet groups (n=10, 14.7%), (p<0.0001). No significant differences were found between the groups in terms of clinical features, except for erysipelas like erythema (ELE) (Hom group: 69.6% vs. Het group 37.5%, p<0.0001). Amyloidosis and concomitant disorders were found in 22 FMF patients with Hom MEFV mutations, 16 FMF patients with heterozygous mutations, 7 FMF patients with cHet mutations. CONCLUSIONS: While the presence of homozygous mutations creates tendency for a severe disease phenotype, the development of concomitant disorders seems to be independent of homozygous mutations.

Cyclophosphamide-induced severe acute hepatitis in a rheumatic disease: case-based review.

In rheumatology practice, the risk of hepatotoxicity from medications, including non-steroidal anti-inflammatory drugs, notably, and methotrexate, sulfasalazine, leflunomide, and azathioprine is highly recognized by the rheumatologists. On the other hand, hepatotoxicity is neither a commonly expected nor a well-known side effect of cyclophosphamide (CYC) which is particularly used for vital organ involvements in systemic lupus erythematosus (SLE) and systemic vasculitis. Here we reported a 19-year-old case of SLE who, while on oral CYC treatment of 100 mg/day, was detected to have asymptomatic liver enzyme elevation and then developed acute hepatitis due to intravenously administered high-dose (1 g) CYC for neuro-lupus. Results of liver biopsy indicated drug-related toxicity. We discussed here with the other, although rare, cases available in the literature with an attempt to highlight the risk of hepatotoxicity and acute hepatitis due to CYC.

Indications for bone marrow examinations in rheumatology.

Hematologic involvement or hematologic malignancies are frequently encountered during the course of rheumatic diseases. Bone marrow (BM) aspiration and/or biopsy examinations may have a diagnostic role in explaining hematologic findings detected in rheumatology clinical practice. Our aim was to describe the indications for BM examinations and to share our BM aspiration/biopsy results. We analyzed 140 BM aspiration/biopsy results of patients conducted at the Department of Rheumatology from 2010 to 2018. Demographics, complete blood count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) values, serum biochemistry test results including lactate dehydrogenase (LDH), organomegaly, indications for BM examinations and BM examination results for each patient, and mortality rates were recorded. Out of the 140 patients, 63.6% were female, and the median (Q1-Q3) age was 53 (39.5-65) years. One hundred fifteen (82.1%) patients were diagnosed as having primary rheumatic disease, and 25 (17.8%) were admitted due to musculoskeletal symptoms. Rheumatoid arthritis (RA) (n = 34, [29.5%]), and systemic lupus erythematosus (SLE) (n = 21, [18.2%]) were the most common rheumatic diseases. Cytopenia was the most common indication for BM aspiration/biopsy (n = 83, [59.3%]). Thirty-nine (47%) of 83 patients had drug-induced cytopenia. A pathology was detected in 40 (28.5%) of the 140 BM examinations. Patients with pathologic BM results had either a hematologic malignancy (n = 38, [95%]) or metastasis to a solid organ (n = 2, [5%]). The group of patients with pathologic BM biopsy results had significantly higher rates of lymphadenopathy, splenomegaly, and monoclonal gammopathy compared with the group with non-pathologic results (p = 0.001, p = 0.011, and p = 0.023, respectively). Likewise, LDH concentrations of those with pathologic results were higher than in patients with non-pathologic results [737 (range 577-1420) IU/L vs. 541 (range 306-840) IU/L, p = 0.019]. In this study, cytopenia or CBC abnormalities accompanied by elevated LDH values or anemia along with increased ESR were the most common indications for BM aspiration/biopsy. Further prospective studies are needed to determine the indications of BM aspiration/biopsy and establish the parameters that predict abnormal BM results in rheumatology practice.