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At least 1,603 records · Page 89Linked to original sources
PubMed2003

Bactericidal/permeability-increasing protein and cathepsin G are the major antigenic targets of antineutrophil cytoplasmic autoantibodies in systemic sclerosis.

OBJECTIVE: To study the prevalence and antigenic specificity of antineutrophil cytoplasmic autoantibodies (ANCA) in patients with systemic sclerosis (SSc). METHODS: Sera from 68 patients with SSc were screened for ANCA by indirect immunofluorescence (IIF) assay and for antibodies to myeloperoxidase (MPO) by ELISA. All sera positive for ANCA on IIF were analyzed for reactivity against antigenic targets other than MPO [bactericidal/permeability-increasing protein (BPI), cathepsin G, lysozyme, elastase, PR3, and lactoferrin]. Twenty-three sera negative for ANCA were also tested for antibodies to BPI and cathepsin G using ELISA. RESULTS: The study included 33 patients with diffuse and 35 with limited SSc. ANCA was detected in 24 of the 68 sera (35.3%). In these 24 sera the antigenic targets were BPI in 14, cathepsin G in 13, and MPO in 8. Sera of 11 patients had reactivity against both BPI and cathepsin G. In sera, that were negative for ANCA, antibodies to BPI (4/23), cathepsin G (3/23), and MPO (1/44) were found in a small proportion of patients. Patients with antibodies to BPI had lower skin score, whereas no patient with antibodies to MPO had renal disease. CONCLUSION: BPI and cathepsin G are the major antigenic targets of ANCA seen in patients with SSc. Patients with antibodies to BPI had lower skin scores.

Adolescent↗
PubMed2003

Blood coagulation, fibrinolysis, and markers of endothelial dysfunction in systemic sclerosis.

OBJECTIVE: To evaluate the coagulative/fibrinolytic cascade and the circulating markers of the endothelial injury in systemic sclerosis (SSc). METHOD: Plasma was obtained from 29 patients with SSc and tested for thrombin-antithrombin (TAT), fragments 1+2 (F1+2), dermatansulphate (DS), thrombomodulin (TM), lipoprotein (a) [Lp(a)], von Willebrand factor (vWF), tissue type plasminogen activator (tPA), plasminogen activator inhibitor (PAI), D-dimers, intercellular adhesion molecole-1 (ICAM-1), vascular cell adhesion molecule (VCAM), and E-selectin. The data were correlated with lung (forced vital capacity, diffusing lung capacity for carbon monoxide, vital capacity) and skin (skin score) involvement. RESULTS: Coagulation was significantly activated (increase in F1+2, P <.001; TAT, P <.01; and Lp(a), P <.05). TM was not significantly different from controls. vWF was significantly increased (P <.01), and its supranormal multimers increased in more than 50% of patients. DS was significantly increased in diffuse cutaneous SSc (P <.01). Fibrinolysis was impaired as shown by reduced D-dimers (P <.01) and decreased levels of PAI (P < 0.01). The markers of endothelial injury were also significantly elevated. DS correlated significantly with forced vital capacity (P <.01) and forced vital capacity ratio (P <.01). CONCLUSION: Injury to the endothelium reduces endothelial function, as suggested by impairment of fibrinolysis and activation of the coagulative pathway. The loss of the balance between fibrinolysis and coagulation contributes to vessel engulfment with fibrin and breakdown of vessel patency. The increase of circulating DS suggests that this factor may be a new marker of endothelial injury.

Adult↗
PubMed2000

Association of markers for TGFbeta3, TGFbeta2 and TIMP1 with systemic sclerosis.

OBJECTIVES: To investigate whether six microsatellite markers known to map closely to genes involved in fibrosis are associated with systemic sclerosis (SSc). METHODS: Markers mapping to TGFbeta1, TGFbeta2, TGFbeta3, PDGFB, TIMP1 and COL5A2 were genotyped and allele frequency distributions compared in 191 patients and 196 controls. As TIMP1 maps to the X chromosome, male and females were analysed separately. Markers associated with SSc were further investigated according to whether patients had limited (lcSSc) or diffuse (dcSSc) cutaneous fibrosis. RESULTS: Associations were found between SSc and markers for TGFbeta3 (chi(2)=17.3, df=8, P=0.02), TGFbeta2 (chi(2)=25.2, df=13, P=0.02) and TIMP1 (with male SSc, chi(2)=11.9, df=5, P=0.03), between lcSSc and the TGFss2 marker (chi(2)=25.6, df=13, P=0.02), and between dcSSc and TGFbeta3 marker (chi(2)=27.1, df=8, P=0.001). Between lcSSc and dcSSc patients, the allele frequency distribution differed only for the TGFbeta3 marker (chi(2)=16.5, df=6, P=0.01). CONCLUSION: These associations indicate a possible role for TGFbeta3, TGFbeta2 and TIMP1 in genetic susceptibility to SSc and for TGFbeta3 in determining the degree of cutaneous fibrosis.

Adult↗
PubMed1999

Laser doppler imaging--a new technique for quantifying microcirculatory flow in patients with primary Raynaud's phenomenon and systemic sclerosis.

This was a pilot study to investigate the new technique of laser Doppler imaging (scanning laser Doppler) as a tool to quantify microvascular blood flow in the digits of patients with primary Raynaud's phenomenon (PRP) and systemic sclerosis (SSc), and to determine in the first instance whether the flux patterns obtained differ between patients with SSc, patients with PRP, and healthy control subjects. Laser Doppler images of the dorsum of the hand and fingers were acquired at 23 and 30 degrees C in 17 healthy control subjects, 7 patients with PRP, 9 patients with the diffuse cutaneous variant of SSc, and 24 patients with the limited cutaneous variant of SSc. Different flux parameters were compared between groups. Analysis of variance found significant differences between groups in two tests: maximum difference in flux between fingertips of the same hand at 23 degrees C (P = 0.001) and maximum gradient in flux along a finger ("distal-dorsal" flux difference) at 30 degrees C (P = 0. 019). Post hoc tests highlighted the differences between controls and patients with limited cutaneous SSc. This pilot study suggests that laser Doppler imaging may allow objective measurement of microvascular flow in patients with PRP and SSc. This new technique may overcome many of the problems inherent in single-channel laser Doppler equipment.

Adult↗
PubMed1997

Elevated serum levels of interleukin 4 (IL-4), IL-10, and IL-13 in patients with systemic sclerosis.

OBJECTIVE: To determine whether serum interleukin 4 (IL-4), IL-10, and IL-13 levels in patients with systemic sclerosis (SSc) are elevated and whether they correlate with the clinical or serologic features of this disease. METHODS: Serum samples from patients with limited cutaneous SSc (ISSc) (n = 45), diffuse cutaneous SSc (dSSc) (n = 28), and control subjects (n = 30) were examined by ELISA. RESULTS: Serum IL-4 and IL-13 levels were significantly higher in patients with ISSc and dSSc than in the controls. Serum IL-10 levels were significantly higher in the patients with dSSc compared with controls. Elevated IL-10 levels were detected frequently in patients with arthralgia. Serum IL-13 levels correlated with erythrocyte sedimentation rates and C-reactive protein levels in patients. CONCLUSION: We suggest that IL-4, IL-10, and IL-13 may be some of the cytokines that contribute to the disease process, and that IL-13 may be a serologic indicator of systemic inflammation in patients with SSc.

Adolescent↗
PubMed1983

Frequency and clinical significance of anticentromere and anti Scl-70 antibodies in an English connective tissue disease population.

To determine the clinical significance of anti-centromere (ACA) and anti Scl-70 antibodies in an English population with connective tissue diseases, we examined the sera of 150 patients, including 40 with systemic sclerosis (SS), who were prospectively studied on the same clinical protocol in our connective tissue disease clinic. ACA was present in 44% of the CREST patients as opposed to only 12% of those with SS and diffuse skin involvement. Only two patients without SS had ACA. Anti Scl-70 was detected in 20% of the patients with SS and only two of those with other connective tissue diseases. We confirmed the specificity of these antibodies for SS. Either anti Scl-70 or ACA was present in half the patients with SS and their presence may represent a useful aid to diagnosis of this disease in patients presenting with Raynaud's phenomenon or an undifferentiated connective tissue disease. While less than half the CREST patients had ACA, this antibody appears to identify those patients within the CREST variant with skin involvement confined to sclerodactyly as opposed to those with acrosclerosis. These patients, however, did not differ in the degree of visceral involvement.

Adult↗
PubMed2003

Seventeen-point dermal ultrasound scoring system--a reliable measure of skin thickness in patients with systemic sclerosis.

OBJECTIVE: Our objective was to develop a 17-site ultrasound method of measuring skin thickness in patients with systemic sclerosis (SSc) and to assess its inter- and intra-observer variability. METHODS: Dermal thickness (using a 22 MHz ultrasound probe) was measured at 17 sites (corresponding to those assessed in the modified Rodnan skin score) in 39 patients with SSc (26 limited cutaneous, 13 diffuse) and 34 healthy controls. The sum of the thicknesses (at the 17 sites) and the maximal thickness were also documented. Because skin thickness varies between sites, each measurement was converted to a z-score. Inter- and intra-observer variability were assessed in 35 patients/33 controls, and 20 patients/15 controls respectively. RESULTS: Measurement precision was good for the dermal measurements-intraclass correlation coefficients at the 17 sites ranged from 0.65 to 0.94 for the inter-observer variability (0.86 for maximum thickness) and from 0.55 to 0.96 for the intra-observer variability (0.92 for maximum thickness). CONCLUSION: Our results suggest that the 17-point dermal ultrasound scoring system is extremely reliable and may therefore be a useful measure of outcome, including in clinical trials.

Adult↗
PubMed1996

Pilot study of antithymocyte globulin in systemic sclerosis.

OBJECTIVE: Between June 1, 1992 and August 31, 1994 we conducted an open pilot study of antithymocyte globulin (ATGAM; Upjohn, Kalamazoo, MI) in 10 patients with early systemic sclerosis (SSc) to assess whether this agent might prevent the progression of cutaneous and pulmonary involvement in this disease. METHODS: Adult patients with early SSc (< 3 years) and evidence of progressive skin and pulmonary disease were enrolled. All patients were hospitalized and received a single course of intravenous ATGAM, at a dosage of 10 mg/kg over 4 hours, on 5 consecutive days. Patients were followed up at weeks 1, 2, 3, and 4, and months 2, 4, 6, and 12. Patients were considered to be improved if the Rodnan skin score decreased > or = 25%, to be worse if the skin score increased > or = 25%, and to be not improved if the skin score was within 25% of baseline. For pulmonary involvement, patients were considered to be improved if either the diffusing capacity for carbon monoxide or the forced vital capacity was increased > or = 10%, worse if decreased by > or = 10%, and stable if within 10% of baseline. RESULTS: Most patients tolerated the treatment well, although 1 patient developed an allergic reaction necessitating discontinuation of treatment, 1 developed a serum sickness reaction after completion of therapy, and 1 developed a central venous access-related axillary vein thrombosis. Two patients died of SSc-related complications during the followup period. At 12 months, only 2 patients showed improvement in both skin and pulmonary function measures, whereas 5 patients were worse and 3 were stable. CONCLUSION: At the dosage administered in this study, ATGAM appears ineffective in improving the skin and pulmonary features of SSc.

Adult↗
PubMed2004

Health-related quality of life measured by the Short Form 36 (SF-36) in systemic sclerosis: correlations with indexes of disease activity and severity, disability, and depressive symptoms.

The aim of this study was to evaluate health-related quality of life (HR-QOL) in patients with systemic sclerosis (SSc), to compare it with that of patients with rheumatoid arthritis (RA), and to correlate it with other parameters. HR-QOL was evaluated by the Short Form 36 (SF-36), SSc disease activity and severity by preliminary indexes recently proposed, disability by the Health Assessment Questionnaire (HAQ), and depressive symptoms by the Beck Depression Inventory. HR-QOL perception was not statistically different in patients with SSc and RA, except that patients with diffuse cutaneous involvement had worse scores in the general health and mental health dimensions than patients with RA (p=0.03). Compared with RA, patients with SSc tended to perceive less bodily pain (p=0.06) and have less disability (p=0.04) but to report higher depressive symptom scores (p=0.05). SSc patients' HR-QOL was associated with some disease severity scales (general, kidney and, less significantly, heart), but it was poorly correlated with the other evaluated disease activity and severity indexes. A strong correlation with disability and with depressive symptoms was observed. In conclusion, patients with SSc perceived a reduced HR-QOL similar to that of patients with RA. SF-36 may provide useful information in their evaluation.

Aged↗
PubMed2004

Autoantibody against matrix metalloproteinase-3 in patients with systemic sclerosis.

Systemic sclerosis (SSc) is characterized by multi-organ fibrosis with an autoimmune background. Although autoantibodies are detected frequently in SSc patients, the role of autoantibody in the development of fibrosis remains unknown. Connective tissue homeostasis is a balance between the synthesis and degradation of the extracellular matrix (ECM); ECM degradation is regulated mainly by matrix metalloproteinases (MMPs). Anti-MMP-1 antibody is suggested to inhibit MMP-1 and be involved in the development of the fibrosis in SSc. However, the accumulation of various ECM components in the tissue of SSc cannot be explained by the anti-MMP-1 antibody alone. In this study, we examined the presence or levels of antibody to MMP-3, a protein which degrades various ECM components relevant to SSc fibrosis. Enzyme-linked immunosorbent assay (ELISA) using human recombinant MMP-3 revealed that IgG anti-MMP-3 autoantibody levels were elevated significantly in the sera from SSc patients, but not in patients with active systemic lupus erythematosus or dermatomyositis. IgG and IgM anti-MMP-3 antibody levels were significantly higher in diffuse cutaneous SSc, a severe form, than those in limited cutaneous SSc. Consistently, IgG anti-MMP-3 antibody levels correlated significantly with fibrosis of the skin, lung and renal blood vessels. The presence of IgG anti-MMP-3 autoantibody in sera from SSc patients was confirmed by immunoblotting analysis. Remarkably, MMP-3 activity was inhibited by IgG anti-MMP-3 antibody. These results suggest that anti-MMP-3 antibody is a serological marker that reflects the severity of SSc and also suggest that it may contribute to the development of fibrosis by inhibiting MMP-3 activity and reducing the ECM turnover.

Autoantibodies↗
PubMed2004

Angiotensin II in the lesional skin of systemic sclerosis patients contributes to tissue fibrosis via angiotensin II type 1 receptors.

OBJECTIVE: Tissue fibrosis in systemic sclerosis (SSc) is attributed to excessive deposition of extracellular matrix components produced by fibroblasts in skin lesions. Angiotensin II (Ang II), a vasoconstrictive peptide, is reported to have profibrotic activity as a result of induction of the extracellular matrix. The aim of the present study was to examine the expression of Ang II and its type 1 (AT(1)) and type 2 (AT(2)) receptors in affected skin and dermal fibroblasts from patients with SSc and to study the role of Ang II in collagen production by SSc dermal fibroblasts. METHODS: Levels of Ang II in sera from SSc patients and normal subjects were measured by a solid-phase immobilized-epitope immunoassay. Expression of angiotensinogen (Angt) in the skin was evaluated by immunohistochemistry. Expression of Angt, AT(1), and AT(2) in cultured dermal fibroblasts was analyzed by reverse transcription-polymerase chain reaction and immunohistochemistry. Levels of type I procollagen produced by cultured dermal fibroblasts were measured by enzyme-linked immunosorbent assay. RESULTS: Serum Ang II levels in patients with diffuse cutaneous SSc were significantly higher than those in patients with limited cutaneous SSc and in healthy donors. Immunohistochemical and immunoblotting analyses showed that Angt was present in skin from SSc patients, but not in normal skin. Angt messenger RNA (mRNA) was expressed in fibroblasts from patients with diffuse cutaneous SSc who had high levels of serum Ang II, but not in normal fibroblasts. AT(1) mRNA expression was found in both SSc and normal fibroblasts, whereas AT(2) mRNA was found only in SSc fibroblasts. Exogenous Ang II augmented the production of type I procollagen and transforming growth factor beta1 by cultured fibroblasts via activation of AT(1). CONCLUSION: Aberrant Ang II production may be involved in tissue fibrosis through excessive production of the extracellular matrix components in SSc dermal fibroblasts. This suggests that the use of AT(1) receptor antagonists may be a novel strategy for the treatment of tissue fibrosis in SSc patients.

Adult↗
PubMed2006

Prolactin synthesis by lymphocytes from patients with systemic sclerosis.

Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs. It has been demonstrated that serum prolactin levels are increased in patients with various connective tissue diseases. The aim of this study was to investigate the possible source of excessive prolactin synthesis in SSc and its effects on immune cells. The study group consisted of 52 patients with diffuse SSc (44 women and eight men) and 52 age and sex matched healthy controls. The methods used were: ELISA and indirect immunofluorescence. Our results show significantly elevated level of prolactin in male and female patients with SSc and increased prolactin production by SSc lymphocytes as compared to healthy donors X lymphocytes (25.4+/-11.0 vs. 13.4+/-5.0 absorbance units). Patients X and healthy controls X lymphocytes, showed equal presence of prolactin receptors. Soluble interleukin 2 receptor (CD25) concentration, was significantly higher in supernatants of prolactin stimulated lymphocytes, as compared to non-stimulated lymphocytes. We conclude that lymphocytes might contribute to elevated prolactin levels in patients with SSc and that these cells themselves may be sensitive to prolactin stimulation. Therefore, a pharmacologic attempt to lower prolactin levels in patients with SSc could proof beneficial.

Adult↗
PubMed1998

Mortality and causes of death in a Swedish series of systemic sclerosis patients.

OBJECTIVES: To analyse survival rates and the causes of death in a systemic sclerosis (SSc) population, and to evaluate the occurrence of fatal malignant neoplasms and their possible association with oral cyclophosphamide (CYC) treatment. METHODS: Survival was calculated for 249 SSc patients followed up for up to 13 years. Mean (SD) follow up was 5.8 (4.2) years. The 49 decreased patients were subdivided according to causes of death and its relation to SSc. Fatal malignancies in CYC treated patients were compared with those occurring in non-CYC treated patients. RESULTS: The overall 5 and 10 year survival rates were 86% and 69% respectively. There was a 4.6-fold increased risk of death, as compared with the general population. Prognosis was worse in the diffuse cutaneous involvement (dSSc) and male subgroups than in the limited cutaneous involvement (1SSc) and female subgroups. Of the 49 deaths, 24 were attributable to pulmonary complications such as pulmonary fibrosis, pulmonary hypertension, pneumonia or pulmonary malignancy. Treatment with oral CYC did not increase the risk of dying of cancer. CONCLUSIONS: Mortality is increased both in the SSc population as a whole and in its different subsets (dSSc and 1SSc). Prognosis is worst among male patients with dSSc. However, the 5 year survival rate was better than those reported from earlier studies. Most patients die of cardiopulmonary disease. Five of seven fatal lung cancers were adenocarcinomas, possibly caused by chronic inflammatory disease of the lung. In this study, CYC treatment was not associated with an increased incidence of fatal malignant neoplasms.

Adenocarcinoma↗
PubMed1996

Colon involvement in systemic sclerosis: clinical-radiological correlations.

About one third of all patients with systemic sclerosis (SS) presents colon abnormalities, although these may be underestimated because they frequently remain asymptomatic for a long time. Thirty-five patients (33 women and 2 men; mean age 56.5 years; mean disease duration 11.9 years) affected by SS (25 with limited and 10 with diffuse pattern of skin involvement) were investigated using barium enema to detect radiological changes in the colon, and to correlate them with other visceral involvement, autoantibody profile, abdominal symptoms and duration of the disease. Ten patients (28.6%) showed X-rays abnormalities (excluding isolated diverticula), wide-mouthed sacculations being the most frequent finding. Our data confirm that the colon is frequently involved in SS, even in the limited form of the disease. The most relevant finding was the dissociation between clinical symptoms and radiological features which proved to be more evident among the patients with limited SS. No correlations were found between the radiological picture and any other parameter, thus suggesting that careful evaluation of the colon should be performed in any patient suffering from the disease.

Adult↗
PubMed1993

Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies.

Previous cytogenetic studies of patients with systemic sclerosis have obtained conflicting results regarding the presence of chromosomal anomalies. We studied 38 patients and 15 controls to determine whether these inconsistencies were due to differences in the subgroups of patients who were studied. Because many patients with systemic sclerosis produce autoantibodies to protein antigens that have been implicated in chromosome structure and function, we further hypothesized that the presence of these autoantibodies might correlate with the presence of chromosomal anomalies. Patients were classified into clinical subgroups based on the extent of their disease. Their sera were assayed for autoantibodies to topoisomerase I and centromere proteins (CENP-A, CENP-B, and CENP-C) by immunoblotting. Cytogenetic analyses for aneuploidy and chromosome breaks were performed. Anticentromere antibody positive (ACA+) patients had significantly more aneuploidy than either ACA negative (ACA-) patients or controls (P = 0.041). Although the patient group, when considered as a whole, had significantly greater aneuploidy than the control group (P < 0.005), patients who were ACA--did not have more aneuploidy than the controls had. Patients with Type I disease (sclerodactyly), the majority of whom were ACA+, also had significantly more aneuploidy than did either the controls or patients with Type III (diffuse) disease, most of whom were ACA- (P < 0.005). ACA+ patients also had more chromatid breaks than the controls had (P < 0.05). The correlation between the presence of ACAs and chromosomal aneuploidy suggests that aneuploidy may be the result of nondisjunction secondary to centromeric dysfunction. In support of this hypothesis, the ACA+ patients who had antibodies to CENP-C exhibited more chromosomal aneuploidy than did either anti-CENP-A or anti-CENP-B positive patients (P < 0.048). Unlike CENP-A and CENP-B, which are present at both functional and inactivated centromeres, CENP-C is present at the kinetochore of functional centromeres.

Adult↗
PubMed2000

Serum levels of KL-6 as a useful marker for evaluating pulmonary fibrosis in patients with systemic sclerosis.

OBJECTIVE: KL-6 is a mucin-like glycoprotein that is strongly expressed on type II pneumocytes in the lung. Circulating KL-6 has been shown to be a sensitive marker of the disease activity of interstitial lung diseases. We determined the serum levels of KL-6 in patients with systemic sclerosis (SSc) and investigated whether these levels would serve as a useful marker of pulmonary fibrosis (PF) in patients with SSc. METHODS: The serum KL-6 levels were determined using a specific ELISA in 91 patients with SSc, and in 38 healthy controls. RESULTS: The serum levels of KL-6 were significantly higher in patients with SSc than in healthy controls (923+/-860 vs. 382+/-55 U/ml; p<0.0001). The serum KL-6 levels of the patients with diffuse cutaneous SSc (dSSc) tended to be higher than those with limited cutaneous SSc (ISSc) (1054+/-1000 vs. 800+/-694 U/ml), but there was no significant difference between these 2 groups. The serum KL-6 levels in the patients with PF were significantly elevated compared to those without PF (1283+/-1056 vs. 520+/-148 U/ml; p<0.0001). Moreover, DLCO and VC were also significantly decreased in the patients with elevated KL-6 levels compared to those with normal levels (62+/-22% vs. 72+/-17%, p<0.05; 87 +/-20% vs. 100+/-18%, p<0.01, respectively). CONCLUSION: Serum KL-6 level may be a useful serum marker for evaluating pulmonary fibrosis in patients with SSc.

Adult↗
PubMed2005

Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients.

Although, the cytotoxic T lymphocyte antigen-4 gene polymorphism at position 49 of exon-1 has been strongly elucidated in different autoimmune diseases, but its role in predisposition to systemic sclerosis (SSc) is yet controversial. This study intends to analyze the genetic correlation of the ctla-4 gene locus with diffuse systemic sclerosis (dSSc), as well as to understand the influence of these genotypes in disease expression. Seventy known cases of SSc, and 151 age-matched healthy controls, were participated in this investigation. The frequencies of AA, GG and AG genotypes were found to be 26 (37.1%), 5 (7.2%) and 39 (55.7%) in patients, and 60 (39.7%), 19 (12.6%) and 72 (47.7%) in controls, respectively. As indicated, the differences in genotype and allele frequencies between patients and controls were insignificant (P>0.05). Moreover, the distribution of CTLA-4 polymorphism between patients did not differ significantly according to clinical and serologic features. In Iranian patients, susceptibility to SSc is not influenced by a bi-allelic ctla-4 gene (A49G) polymorphism.

Adult↗
PubMed1997

Diffuse lung disease: product of genetic susceptibility and environmental encounters.

Diffuse (interstitial) lung disease comprises a wide variety of conditions, individually relatively uncommon but collectively being found in approximately 50 per 100,000 population. Some of these diseases are of known aetiology but others are not. It has been suggested that the environment is a major contributory factor in this group of diseases. However, since not all individuals exposed to a common environment develop interstitial diseases, it can be hypothesised that there is a genetic predisposition to their development. These diseases cause major morbidity and mortality due to lung injury and fibrosis. It follows that, if individuals who are genetically predisposed to develop diseases characterised by lung injury and fibrosis can be identified, then management strategies can be designed which will attempt to identify and treat early disease and, in the longer term, to develop targeted genetic interventional approaches to treatment.

Adult↗