A Nonsynonymous Functional Variant of the ITGAM Gene Is Not Involved in Biopsy-proven Giant Cell Arteritis

2011 ◽  
Vol 38 (12) ◽  
pp. 2598-2601 ◽  
Author(s):  
F. DAVID CARMONA ◽  
AURORA SERRANO ◽  
LUIS RODRÍGUEZ-RODRÍGUEZ ◽  
SANTOS CASTAÑEDA ◽  
JOSÉ A. MIRANDA-FILLOY ◽  
...  

Objective.To investigate whether a functional integrin alpha M (ITGAM) variant is involved in susceptibility to and clinical manifestations of giant cell arteritis (GCA).Methods.A Spanish cohort of 437 white patients with biopsy-proven GCA and 1388 healthy controls were genotyped using the TaqMan allele discrimination technology.Results.No association was observed between ITGAM rs1143679 and GCA (p = 0.80, OR 0.97). Similarly, subphenotype analyses did not yield significant differences between the case subgroups and the control set or between GCA patients with or without the main specific features of GCA.Conclusion.Our results suggest that the ITGAM rs1143679 variant does not play an important role in the pathophysiology of GCA.

2018 ◽  
Vol 69 (1) ◽  
pp. 152-154
Author(s):  
Vasilica Cristescu ◽  
Aurelia Romila ◽  
Luana Andreea Macovei

Polymyalgia rheumatica is a disease that occurs mostly in the elderly and is rarely seen in patients less than 50 years of age. Polymyalgia rheumatica is a vasculitis, which manifests itself as an inflammatory disease of the vascular wall that can affect any type of blood vessel, regardless of its size. It has been considered a form of giant cell arteritis, involving primarily large and medium arteries and to a lesser extent the arterioles. Clinical manifestations are caused by the generic pathogenic process and depend on the characteristics of the damaged organ. PMR is a senescence-related immune disorder. It has been defined as a stand-alone condition and a syndrome referred to as rheumatic polyarteritis with manifestations of giant cell arteritis (especially in cases of Horton�s disease and temporal arteritis) which are commonly associated with polymyalgia. The clinical presentation is clearly dominated by the painful girdle syndrome, with a feeling of general discomfort. Polymyalgia and temporal arteritis may coexist or be consecutive to each other in the same patient, as in most of our patients. The present study describes 3 cases of polymyalgia rheumatica, admitted to the Clinic of Rheumatology of Sf. Apostol Andrei Hospital, Galati. The cases were compared with the literature. Two clinical aspects (polymyalgia rheumatica and/or Horton�s disease) and the relationship between them were also considered. Polymyalgia rheumatica is currently thought to have a multifactorial etiology, in which the following factors play a role: genetic factors or hereditary predisposition (some individuals are more prone to this disease), immune factors and viral infections (triggers of the disease). Other risk factors of polymyalgia rheumatica include age over 50 years and the association with giant cell arteritis. The characteristic feature of the disease is girdle pain, with intense stiffness of at least one hour�s duration. Markers of inflammation, erythrocyte sedimentation rate and C-reactive protein are almost always increased at the onset of the disease. Diseases that can mimic the clinical picture of polymyalgia rheumatica are neoplasia, infections, metabolic disorders of the bone and endocrine diseases.


2009 ◽  
Vol 36 (5) ◽  
pp. 1021-1025 ◽  
Author(s):  
ROGELIO PALOMINO-MORALES ◽  
TOMAS R. VAZQUEZ-RODRIGUEZ ◽  
INMACULADA C. MORADO ◽  
SANTOS CASTAÑEDA ◽  
NORBERTO ORTEGO-CENTENO ◽  
...  

Objective.To investigate the potential implication of the STAT4 gene polymorphism rs7574865 in the predisposition to or the clinical expression of giant cell arteritis (GCA).Methods.A total of 212 patients diagnosed with biopsy-proven GCA were studied. DNA from patients and controls matched by age, sex, and ethnicity was obtained from peripheral blood. Samples were genotyped for STAT4 rs7574865 polymorphism.Results.No statistically significant differences in the allele frequencies for the STAT4 rs7574865 polymorphism were observed between patients and controls. Although we observed an increased frequency of the T/T genotype in GCA patients (6.0%) compared to healthy controls (3.9%), this difference did not achieve statistical significance (OR 1.57, 95% CI 0.72–3.41). No statistically significant differences in allele or genotype frequencies were observed when patients were stratified according to the presence of typical disease features such as polymyalgia rheumatica, severe ischemic manifestations, and visual ischemic complications in the setting of this vasculitis.Conclusion.Our results do not support a major role of the STAT4 rs7574865 gene polymorphism in susceptibility to or clinical manifestations of GCA.


2012 ◽  
Vol 39 (6) ◽  
pp. 1275-1279 ◽  
Author(s):  
F. DAVID CARMONA ◽  
AURORA SERRANO ◽  
LUIS RODRÍGUEZ-RODRÍGUEZ ◽  
JOSÉ LUIS CALLEJAS ◽  
CARMEN P. SIMEÓN ◽  
...  

Objective.We evaluated whether a single-nucleotide polymorphism (SNP) of theTRAF6gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).Methods.A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan©allele discrimination assay.Results.No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of theTRAF6polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed.Conclusion.Our data do not support a role of the rs540386TRAF6variant as a key component of the genetic network underlying SSc and GCA.


2021 ◽  
Author(s):  
Ryan Costa Silva ◽  
Inês Silva ◽  
Joana Rodrigues Santos ◽  
Tania Vassalo ◽  
Joana Rosa Martins ◽  
...  

Giant cell arteritis (GCA), also known as temporal arteritis or Horton disease, is categorized as a large- and medium-sized vessels vasculitis. Systemic symptoms are common in GCA and although vascular involvement may be widespread, the cranial branches of the aortic arch are responsible for the hallmark symptoms of GCA: headache, jaw claudication and ocular symptoms, particularly visual loss. The large vessel (LV)-GCA phenotype may differ or overlap from cranial arteritis. Clinical consequences of LV-GCA comprise aneurysms and dissections of the aorta, as well as stenosis, occlusion and ectasia of large arteries. Symptoms of polymyalgia rheumatica occurring in a patient with GCA include characteristic proximal polyarthralgias and myalgias, sometimes accompanied by remitting seronegative symmetrical synovitis with pitting edema (RS3PE), Less common manifestations reported include central nervous system involvement, audiovestibular and upper respiratory symptoms, pericarditis, mesenteric ischemia and female genital tract involvement.


2019 ◽  
Vol 15 (4) ◽  
pp. 259-268
Author(s):  
Andrea Ciofalo ◽  
Giampiero Gulotta ◽  
Giannicola Iannella ◽  
Benedetta Pasquariello ◽  
Alessandra Manno ◽  
...  

: Giant Cell Arteritis (GCA), or Horton’s Arteritis, is a chronic form of vasculitis of the large and medium vessels, especially involving the extracranial branches of the carotid arteries, in particular, the temporal artery, with the involvement of the axillary, femoral and iliac arteries too. Arterial wall inflammation leads to luminal occlusion and tissue ischemia, which is responsible for the clinical manifestations of the disease. : A substantial number of patients affected by GCA present head and neck symptoms, including ocular, neurological and otorhinolaryngological manifestations. : The aim of this article is to present pathogenesis, clinical aspects and treatment approaches of GCA manifestations.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1215.1-1215
Author(s):  
C. Guillén-Astete ◽  
I. Perea-Fuentes ◽  
L. Ayala-Terrados ◽  
N. García-Montes

Background:Giant cell arteritis (GCA) is the most frequently diagnosed vasculitis in Spain. The highest incidence recorded in the country is 17 new cases per 100,000 inhabitants/year. Its delayed diagnosis exposes the patient to an increased risk of multiple ischaemic complications. Among them, vision loss has been reported in up to 1 in 6 cases. Most of these patients, according to unpublished local observations, presented with headache, visual disturbances or polymyalgic symptoms to an emergency department facility and were not correctly or prompted diagnosed.Objectives:To determine the level of knowledge, skills and diagnostic and therapeutic competencies of the medical staff of multiple emergency departments in our city in regard to giant cell arteritis.Methods:We designed an observational study based on a single survey carried out between February and March 2020 to medical staff from 12 emergency departments in the city of Madrid. Four private and eight public emergency departments were deliberately included. The selection of the surveyed staff was randomly selected to reach 50% of the total number of physicians in each department. A total of 229 surveys were distributed by e-mail. A total of 125 physicians responded (final response rate 54.5%). Twenty-two physicians (9.2%) did not respond to the request and the rest declined to participate, although they responded to the demographic section (35.8%).The survey included the following sections: respondent profile, knowledge of epidemiological aspects, identification of clinical manifestations, diagnostic and therapeutic skills, and educational interest.Results:Forty respondents (33.6%) worked in a privately managed emergency department and 79 (66.4%) in a public centre.The mean age of respondents was 37.3 SD 5.9 years, and the proportion of women was 62.4%. Mean length of service was 3.4 SD 1.2 years among physicians in private emergency departments and 5.7 SD 2.3 in a public management unit. Sixty-four respondents (53.7%) were specialists in Family and Community Medicine, and 46 (38.6%) in internal medicine. No significant differences in demographic characteristics were identified between respondents who agreed to participate and those who declined.In regard to epidemiological knowledge, 50.6% of respondents were unable to identify the age group at highest risk of GCA, 32.7% did not recognise its predominance in the female sex, and 26% did not know the approximate incidence of the disease.In terms of diagnostic suspicion, 46.2% of respondents were able to identify at least five clinical manifestations of the disease. Elevated ESR, CRP and the presence of anaemia were recognised as positive analytical data by 98.3%, 85.7% and 57.7% of respondents, respectively. Ultrasonography of temporal arteries was identified by 97.5% of respondents as a useful diagnostic technique.One hundred and two respondents (81.6%) indicated that they had not suspected GCA in the last month. In the last year, 34 respondents (27.2%) reported having diagnosed the disease on at least one occasion. Regarding treatment, in cases of absence of ischaemic lesion 85.7% indicated suboptimal corticosteroid therapy guidelines, however, 63.0% of the respondents self-rated their therapeutic skills as very good or excellent.Finally, 88.2% of respondents expressed interest in participating in training programmes in diagnosis and treatment of GCA.Conclusion:There are important areas for improvement in knowledge, diagnostic skills and therapeutic competencies among emergency physicians in relation to the suspicion and management of GCA.Disclosure of Interests:None declared


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