The Role of Elastase in the Pathogenesis of the Connective Tissue Diseases

In patients with Raynaud’s phenomenon (RP), the role of medical history, capillaroscopy, and autoantibodies in order to provide an early diagnosis of connective tissue disease (CTD) were examined. 115 consecutive adults with uni-, bi-, or triphasic colour changes of the fingers were studied. RP was bilateral in 92.7% of patients. The middle finger was significantly more affected. A lack of association between fingers affected by RP and fingers with capillary abnormalities was observedOR=0.75(0.34–1.66). RP with the cyanotic phase had a higher risk at capillaroscopy to have hemorrhagesOR=4.46(1.50–13.30) and giant capillariesOR=24.85(1.48–417.44). The thumb and triphasic involvement have an OR of 1.477 and 1.845, respectively. RP secondary to systemic sclerosis (SSc) had greater value of VAS pain (p=0.011). The presence of anti-centromere antibodies was significantly associated with a higher risk of SSc (p<0.001). 44.3% of subjects had uniphasic blanching of the fingers, and among these, 27% was diagnosed as having an overt or suspected CTD. Markers of a potential development of CTDs include severe RP symptoms, positive autoantibodies, and capillary abnormalities. These data support the proposal to not discharge patients with uniphasic blanching of the fingers to avoid missing the opportunity of an early diagnosis.

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Plasma Platelet-derived Microparticles in Patients with Connective Tissue Diseases

The Journal of Rheumatology ◽

10.3899/jrheum.100780 ◽

2011 ◽

Vol 38 (4) ◽

pp. 680-684 ◽

Cited By ~ 13

Author(s):

CHINAMI OYABU ◽

AKIO MORINOBU ◽

DAISUKE SUGIYAMA ◽

JUN SAEGUSA ◽

SHINO TANAKA ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Regression Analysis ◽

Connective Tissue ◽

Lupus Erythematosus ◽

Clinical Characteristics ◽

Linear Regression Analysis ◽

Connective Tissue Diseases ◽

Multiple Linear Regression Analysis ◽

Systemic Lupus

Objective.To clarify the role of platelet-derived microparticles (PDMP), which are small vesicles with thrombotic and immunological properties, in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), dermatomyositis/polymyositis (PM/DM), and mixed connective tissue disease (MCTD).Methods.Plasma levels of PDMP were measured by ELISA, and compared among patients with one of the 4 diseases. Association of PDMP levels with clinical characteristics and medication of the patients was also examined.Results.PDMP levels were higher in patients with MCTD and SSc than in controls. Multiple linear regression analysis revealed that patients with Raynaud’s phenomenon (RP) showed higher PDMP levels than those without. PDMP levels in individual patients did not fluctuate significantly over several months.Conclusion.PDMP level is associated with MCTD, SSc, and RP, and could be a novel marker for RP.

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Difficulties in the Differential Diagnosis of Tracheobronchomegaly in Children

Journal of radiology and nuclear medicine ◽

10.20862/0042-4676-2020-101-3-175-182 ◽

2020 ◽

Vol 101 (3) ◽

pp. 175-182

Author(s):

N. A. Il’ina ◽

L. E. Vorob’eva ◽

M. D. Bakradze ◽

A. S. Polyakova

Keyword(s):

Cystic Fibrosis ◽

Connective Tissue ◽

Pulmonary Fibrosis ◽

Connective Tissue Diseases ◽

Clinical Manifestations ◽

Tracheobronchial Tree ◽

Developmental Defect ◽

Upper Respiratory Tract ◽

Upper Respiratory

Tracheobronchomegaly is a rare developmental defect in children, which is characterized by the expansion of the trachea and large bronchi, the diagnosis and treatment of which are made more often in adult practice, when the clinical diagnostic picture acquires the obvious features of Mounier-Kuhn syndrome. In this connection, the need arises for the early detection of this pathology in children and its differentiation from other diseases and malformations of the tracheobronchial tree, which mask a recurrent inflammatory process in the lung and upper respiratory tract, and primarily with those, such as cystic fibrosis and primary ciliary dyskinesia.The paper describes a case of secondary tracheobronchomegaly in a child with obvious clinical manifestations of Mounier-Kuhn syndrome in the presence of bronchiectasis, pulmonary fibrosis, and signs of systemic connective tissue disease. It discusses the possibilities of chest computed tomography in the diagnosis of this defect in children, as well as its causes. The sizes of the trachea and main bronchi in this patient are compared with those in the groups of children of the same age and sex who have cystic fibrosis or diffuse pulmonary fibrosis to identify a more significant role of hereditary connective tissue diseases in the development of secondary tracheobronchomegaly. The authors propose to separate the concepts of tracheobronchomegaly and Mounier-Kuhn syndrome in children and to recognize the threshold for tracheal expansion in these patients having +3SD or more.

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Role of heritable connective tissue diseases phenotypes in assessing the risk for internal diseases

Kazan medical journal ◽

10.17816/kmj1830 ◽

2014 ◽

Vol 95 (4) ◽

pp. 501-505

Author(s):

A V Tyurin ◽

R A Davletshin ◽

R M Muratova

Keyword(s):

Mitral Valve ◽

Connective Tissue ◽

Mitral Valve Prolapse ◽

Musculoskeletal Diseases ◽

Connective Tissue Diseases ◽

Joint Hypermobility ◽

Hypermobility Syndrome ◽

Joint Hypermobility Syndrome ◽

Systemic Manifestations

Aim. To identify the prevalence of main phenotypes of polygenic heritable connective tissue diseases in patients with internal diseases and to assess the prevalence of different internal diseases in such patients. Methods. The study involved 600 patients (254 males, 346 females) aged 18 to 64 years. Average age of males was 52±3.8 years, females - 47±2.2 years. Patients were examined to reveal the signs of different phenotypes of heritable connective tissue diseases in patients with internal diseases, as well as the severity of connective tissue diseases, and possibilities for it screening using the wrist and thumb hypermobility tests. Results. Signs of heritable connective tissue diseases were revealed in 147 (24.5%) patients with internal diseases. In females, those signs were observed in 104 (30.0%) cases, of which 44 (42.3%) were graded as mild, 35 (33.7%) - moderate, 25 (24.0%) - severe. In males, signs of heritable connective tissue diseases were revealed in 43 cases (16.9%), including mild - 17 (39.5%), moderate - 14 (32.5%) and severe - 12 (28.0%). Ehlers-like phenotype was the most common (52.0%), Marfan-like phenotype was observed in 14.0% of cases, primary mitral valve prolapse was diagnosed in 7.0% of patients, unclassifiable phenotype was observed in 11.0% of cases. Joint hypermobility syndrome was revealed in 31.0% of patients, presenting both as specific phenotypes (Marfan-like, Ehlers-like) and as a self-phenotype (31.9% of all the patients with heritable connective tissue diseases phenotype). Benign joint hypermobility was observed in 6.1% of cases. Symptoms of heritable connective tissue diseases were more frequent in patients with gastrointestinal and musculoskeletal diseases. Conclusion. The most common phenotype of heritable connective tissue diseases is Ehlers-like with skin, bone and systemic manifestations. Presence of heritable connective tissue diseases was most commonly associated with gastrointestinal and musculoskeletal diseases.

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