Estudio Retrospectivo: Características Clínicas de la Esclerosis Sistémica en Pacientes de los Hospitales Vicente Corral Moscoso y José Carrasco Arteaga. Enero 2008 ­ Junio 2015 / Retrospective Research: Clinical Features of Systemic Sclerosis in Patients from Vicente Corral Moscoso and José Carrasco Arteaga Hospitals. January 2008 - June 2015

INTRODUCCIÓN: La esclerosis sistémica es una patología crónica del tejido conectivo; de etiología desconocida y caracterizada por presentar vasculopatía, autoinmunidad y fibrosis. Genera importantes repercusiones socio sanitarias y hasta la actualidad no tiene cura. El objetivo de la presente investigación fue determinar las características clínicas de esa enfermedad en la población local. MÉTODOS: Se realizó un estudio de tipo descriptivo retrospectivo. El universo incluyó a 58 pacientes diagnosticados de esclerosis sistémica en el Hospital Vicente Corral Moscoso y José Carrasco Arteaga durante el período comprendido entre Enero 2008 ­ Julio 2015. La información fue recopilada de las historias clínicas digitales y se realizó estadística descriptiva utilizando el programa SPSS versión 20.0. RESULTADOS: La esclerosis sistémica fue más común en el sexo femenino (relación hombre ­ mujer: 1/8.6), el subtipo limitado fue la forma de presentación principal. Las manifestaciones clínicas más frecuentes fueron las cutáneas (93.1%), seguidas de las osteomusculares (84.5%) y el fenómeno de Raynaud (81%). Los anticuerpos antinucleares fueron positivos en más del 70% de los pacientes. CONCLUSIÓN: La esclerosis sistémica es una enfermedad crónica con afección multiorgánica. El conocimiento de las distintas manifestaciones clínicas de esta patología en la población local, facilitará el diagnóstico oportuno y la instauración de un tratamiento apropiado, con el objetivo de mejorar la calidad de vida del paciente y prevenir complicaciones.(au)

BACKGROUND: Systemic sclerosis is a chronic connective tissue disease; of unknown etiology and characterized by vasculopathy, autoimmunity and fibrosis. The aim of this study was to determine the clinical features of this pathology in local population. METHODS: A retrospective descriptive study was performed. The universe included 58 patients with systemic sclerosis at Vicente Corral Moscoso Hospital and Hospital of Specialties José Carrasco Arteaga during January 2008 - July 2015. The information was compiled from medical records; descriptive statistics were performed using the statistical program SPSS version 20.0. RESULTS: Systemic sclerosis was more common in the females (male - female ratio: 1/8.6), the limited subtype was the main presentation form. The most frequent clinical features were skin disorders (93.1%), followed by osteomuscular manifestations (84.5%) and Raynaud's syndrome (81%). Antinuclear antibodies were positive in more than 70% of patients. CONCLUSION: Systemic sclerosis is a chronic entity with multisystem involvement. The knowledge of the different clinical manifestations will facilitate the opportune diagnosis and the establishment of an appropriate treatment; with the purpose of improve the quality of life and preventing complications.(au)

Incidence of scleroderma spectrum disorders in Slovenia.

OBJECTIVES: This paper aims to investigate the incidence of scleroderma spectrum disorders (SDS) in Slovenia. METHODS: From 01.01.2007 to 31.12.2009 we prospectively examined all patients over 18 years of age suspected of suffering from SDS who were referred to our department, which is the only Rheumatology referral centre in the Ljubljana region serving a population of 518.921 Caucasians over 18. Patient work-up consisted of clinical assessment, laboratory and imaging studies, and functional tests. The working classification of SDS proposed by Maricq and Valter was used to classify patients as having CREST syndrome, digital scleroderma disease (SD), intermediate SD, diffuse SD, undifferentiated connective tissue disease with SD features, and SD sine scleroderma. Patients with certain features of SDS who did not fit any specific class were classified as having prescleroderma using LeRoy's classification of early systemic sclerosis. RESULTS: We examined 100 patients. Forty-one new cases of SDS were diagnosed (37 females, 4 males), aged 58.9±15.1 years (24-86 years). CONCLUSIONS: The overall age-adjusted annual incidence of SDS in Slovenia is 2.6 per 100.000 adults per year (95%CI=1.7-3.5).

Partial breast irradiation in a patient with bilateral breast cancers and CREST syndrome.

PURPOSE: To describe the first documented use of partial breast irradiation (PBI) in a patient with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias (CREST) syndrome. METHODS AND MATERIALS: A 50-year-old woman with well-controlled CREST syndrome for 6 years was diagnosed with bilateral early-staged breast cancers. She underwent bilateral lumpectomies, sentinel lymph node biopsies, and PBI delivered via bilateral MammoSite catheters (Cytyc Corp., Marlborough, MA) followed by chemotherapy. She was monitored perioperatively, at 6 months and at 1 year for worsening of her CREST-related symptoms and complications associated with surgery and radiation therapy. Both surgeon and patient's opinion of her cosmetic outcome were also recorded at 1-year followup. RESULTS: The patient experienced mild acute cellulitic changes in the perioperative period, which resolved with antibiotics. At 6 months, she exhibited a Grade 1 late toxicity, which has remained stable at 1-year followup. The patient and surgeon are very pleased with her cosmetic outcome. CONCLUSIONS: Accelerated PBI was delivered safely to a patient with collagen vascular disease. By decreasing the surface area receiving radiation with accelerated PBI, we believe that the toxicity associated with the treatment was minimized. Future studies will be necessary to clarify the use of PBI in patients with collagen vascular disease.

Síndrome de CREST en Atención Primaria / CREST syndrome in Primary care

Se describen dos casos clínicos con posible clínica de CREST (Calcinosis, Raynaud, Hipomotilidad Esofágica, Esclerodactilia o Esclerodermia, Telangiectasias), una forma de esclerodermia sistémica. Se confi rmó el diagnóstico de CREST en ambos casos, por la presencia de criterios clínicos respaldados por resultados de inmunología, iniciándose posteriormente tratamiento con respuesta favorable evidenciada en sus respectivos seguimientos (AU)

We report two possible cases of CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia), a form of systemic scleroderma. The diagnosis of CREST was confi rmed, in both cases, by clinical criteria supported by immunological test results. Treatment was started with a favourable response as demonstrated by the follow up (AU)

Síndrome de Crest, sclerodermia sistémica progresiva: ¿cómo tratar y mantener un periodonto? Caso clínico / Crest syndrome, progressive systemic scleroderma: how to treat and mantein a periodontium? Clinical case

El síndrome de Crest es una enfermedad autoinmune. Su diagnóstico es un desafío, los tratamientos sistémicos yperiodontal son muy difíciles. El caso clínico que presentamos, tratado en la práctica privada, ofrece una visión de esta enfermedad. Asimismo, permite hacer una crítica a los sistemas de salud que no la contemplan y categorizan como discapacitados a este tipo de pacientes.

Síndrome de Crest, sclerodermia sistémica progresiva: ¿cómo tratar y mantener un periodonto? Caso clínico / Crest syndrome, progressive systemic scleroderma: how to treat and mantein a periodontium? Clinical case

El síndrome de Crest es una enfermedad autoinmune. Su diagnóstico es un desafío, los tratamientos sistémicos yperiodontal son muy difíciles. El caso clínico que presentamos, tratado en la práctica privada, ofrece una visión de esta enfermedad. Asimismo, permite hacer una crítica a los sistemas de salud que no la contemplan y categorizan como discapacitados a este tipo de pacientes.(AU)

[Pulmonary arterial hypertension in collagenoses: clinical features, epidemiology, pathogenesis, diagnosis and treatment]. / Pulmonale arterielle Hypertonie bei Kollagenosen: Klinik, Epidemiologie, Pathogenese, Diagnostik und Therapie.

Pulmonary arterial hypertension (PAH) is a severe vasculopathy, which is characterised by progressive narrowing and obliteration of the pulmonary arterioles and increased endothelin-1 levels. The increase of vascular resistance in the lung vessels leads to chronic pressure overload and to right heart failure, if untreated. PAH often occurs in association with rheumatic-inflammatory diseases (e.g., in 15% of patients with systemic sclerosis (SSc), especially in the limited form or in CREST patients) and determines their prognosis: in advanced stages, untreated patients die within a short period. Therefore all SSc patients, particularly the newly diagnosed ones, should be screened for PAH with echocardiography. If PAH is suspected, a right heart catheter should be performed, and if PAH is confirmed, adequate treatment should be initiated. While few years ago lung transplantation was the only option for patients with severe PAH, in recent years enormous progress was seen in drug treatment. Today prostanoids (Ventavis) and the endothelin receptor antagonist bosentan (Tracleer) are available for patients with PAH in WHO/NYHA stage III: they have substantially improved the prognosis of PAH in the last years. Since few months, also the phosphodiesterase inhibitor sildenafil (Revatio) is available. The combination of drugs with different mode of action will likely further improve the prognosis of PAH patients.

Incidence and clinical correlation of anticentromere antibody in Thai patients.

Anticentromere antibodies (ACA) are useful in assessing and classifying patients with mild variant of systemic sclerosis called calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias (CREST) syndrome. From their prognostic significance, we are interested in the prevalence and disease correlation in Thai patients. A total of 3,233 serum samples of patients with any musculoskeletal symptoms were sent for antinuclear antibody determination at Ramathibodi Immunology Laboratory Service between the years 1998 and 2001. Forty sera (1.23%) were ACA positive. These sera were from 27 patients with autoimmune diseases and 13 with nonautoimmune diseases. Among autoimmune group, scleroderma was the most common diagnosis (33.3%) with limited sclerosis being the most frequent variant. The percentages of autoimmune disease were almost the same among the low-titer (1:40) and the high-titer (1:640) groups. The study suggests that the prevalence of ACA in Thai patients is low. The presence of ACA detected in patients with vague musculoskeletal symptoms does not suggest a diagnosis of CREST syndrome. Even high-titer ACA can be found in nonautoimmune diseases.

Clinical and serological heterogeneity in patients with anticentromere antibodies.

OBJECTIVE: To evaluate the clinical and serological heterogeneity in patients with anticentromere antibodies (ACA). METHODS: One hundred twenty patients with ACA were analyzed retrospectively. ACA were detected initially on the basis of indirect immunofluorescence on HEp-2 cells, and then antibodies to CENP-B were measured by ELISA. Antibodies to other nuclear antigens were also detected by double immunodiffusion and/or ELISA. RESULTS: Eighty-four patients (70.0%) had systemic sclerosis (SSc; scleroderma) and 36 patients (30.0%) had other rheumatic diseases or miscellaneous disorders. Among patients with SSc, 35 patients (41.7%) had SSc in overlap mostly with Sjögren's syndrome (SS), in part with rheumatoid arthritis and/or primary biliary cirrhosis (PBC). Five of 36 patients (13.9%) without SSc also had overlap syndrome of more than 2 rheumatic diseases or PBC. All CREST features (calcinosis, Raynaud's, esophageal dysmotility, sclerodactyly, telangiectasias) were found significantly more in SSc than in other diseases. A combination of RST was the most frequently seen, followed by CREST and CRST in the SSc group. In contrast, 22 of 36 patients (61.1%) without SSc had no CREST features, and the rest had only Raynaud's phenomenon and/or telangiectasia. Twenty-five of 75 patients (33.3%) with SSc and 6 of 25 patients (24.0%) with other diseases had a slight elevation of creatine phosphokinase concentration with no apparent myositis signs and/or skin lesions, suggesting a new additional sign of patients with ACA. Seventy-two patients (60.0%) had ACA alone and 48 patients (40%) had ACA mixed with other disease marker antinuclear antibodies (ANA). ACA alone occurred more frequently in patients with SSc and in the non-overlap group, whereas patients with ACA mixed with other ANA were more frequently found in the other disease and the overlap syndrome groups. Anti-CENP-B ELISA levels of the SSc group were significantly higher than those of other disease groups in all patients, in patients with ACA alone, and in patients having ACA together with other ANA. The most frequently concurrent ANA were anti-SSA/Ro antibodies; and the other ANA, including anti-SSB/La, RNP, topoisomerase-I, Jo-1, Ku, and dsDNA antibodies, were also positive alone or combined with more than 2 ANA in patients with ACA. Five patients with CREST syndrome having ACA and anti-RNP antibodies had clinical manifestations compatible with mixed connective tissue disease. SS was found in 37.0% of patients who had higher anti-CENP-B ELISA levels and higher coincidence of anti-SSA/Ro antibodies than the patients without SS. CONCLUSION: ACA were positive mostly in patients with SSc with CREST features and partly in other rheumatic disorders. The high levels of ACA may be necessary for the development of CREST features, and frequent concurrence of other disease marker ANA may contribute to the development of heterogeneous clinical characteristics, including overlap syndrome, in patients with ACA.

[Pulmonary hypertension in patients with systemic scleroderma with CREST-syndrome and without it]. / Legochnaia gipertoniia u bol'nykh sistemnoi sklerodermiei s CREST-sindromom i bez takovogo.

AIM: To study incidence rate and characteristics of pulmonary hypertension development in patients with systemic sclerosis (SS). MATERIAL AND METHODS: The study included 31 SS patients (30 females, 1 male, age 33-75 years, mean age 47.7 +/- 1.7 years). RESULTS: Pulmonary hypertension occurred more frequently in SS patients with CREST-syndrome than in SS patients free of this syndrome. SS patients with CREST-syndrome had also more severe ventricular hypertrophy than ventricular dilation. CONCLUSION: Echocardiography proved to be a highly informative method for detection of pulmonary hypertension in patients with SS. The necessity of hemodynamical study in SS patients is emphasized.

Post-menopause is the main risk factor for developing isolated pulmonary hypertension in systemic sclerosis.

In scleroderma patients, isolated pulmonary hypertension (PHT) has been associated with selected HLA haplotypes, severe impairment of the diffusing capacity for carbon monoxide and the diagnosis of CREST. Most patients with CREST have a late-age onset of the disease, corresponding to the perimenopausal or postmenopausal period. We conducted a retrospective cohort study to determine the role of post-menopause and of the other known clinical and biological markers in the development of isolated pulmonary hypertension in Italian patients with systemic sclerosis. 189 female patients with scleroderma who had no ecographic signs of pulmonary hypertension (PHT) and radiographic signs of lung fibrosis at the first visit and did not develop significant pulmonary fibrosis during the observation time were included. Sixty-three out of 189 patients (33.3%) presented isolated pulmonary hypertension. A severe impairment of diffusing capacity for carbon monoxide at admission was found to be an early predictive element for its development. An increased risk was associated with postmenopausal condition (RR = 5.2, p = 0.000), CREST syndrome (RR = 2.8, p = 0.001) and haplotype HLA-B35 (RR = 2.8; p = 0.002). A significant positive interaction between postmenopausal condition and either HLA-B35 (RR = 15.2; p = 0.000) or the diagnosis of CREST (RR = 14.1; p = 0.000) was found. Postmenopausal condition alone or in combination with HLA-B35 and CREST syndrome is the main risk-factor for developing primary pulmonary hypertension in scleroderma patients. This suggests that hormonal replacement therapy could play a role in preventing isolated PHT in patients with systemic sclerosis.

CREST syndrome: clinical manifestations and dental management.

Scleroderma is a multisystem connective tissue disease of unknown etiology, which is characterized by inflammation, vascular, and fibrotic changes of the skin as well as various internal organs. This article will review the systemic form of scleroderma known as CREST syndrome, its clinical manifestations including the dentofacial complications, as well as provide information to assist the prosthodontist in managing the dental treatment for patients with this disease.

[Association of extrahepatic autoimmune diseases in primary biliary cirrhosis--clinical statistics and analyses of Japanese and non-Japanese cases].

Abnormality of humoral and cellular immune functions and the association of autoimmune diseases are frequently observed in primary biliary cirrhosis (PBC). The prevalence of autoimmune diseases was studied in 97 Japanese patients with PBC. Sjögren's syndrome was diagnosed in 33 percent of these patients, arthritis in 22 percent, scleroderma in 11 percent, CREST syndrome in 4 percent, Raynaud's phenomenon in 8 percent, autoimmune thyroiditis in 3 percent, respectively. Fifty-five percent of the patients had at least one autoimmune disease and 19 percent had two or more such disorders. In this study, the prevalence of associated autoimmune diseases was somewhat low compared to that of European and American studies. Geographical variations, however, might exist in the prevalence of autoimmune associations, and the frequent occurrence of coexisting autoimmune diseases suggests an autoimmune pathogenesis in PBC.

Antireflux operations in patients with scleroderma.

Fourteen patients with scleroderma underwent antireflux operations (10 short Nissen, 2 Collis-Nissen, 1 Collis-Belsey, and 1 vagotomy and antrectomy with Roux-en-Y). Esophageal function was assessed preoperatively and postoperatively with a follow-up range of 8 to 181 months (mean, 65 months). Reflux symptoms were relieved in 10 of the 14 patients (p < 0.01), as shown by a decrease in their 24-hour acid exposure of from 15% to 7.5% (p < 0.05). However, the lower esophageal sphincter pressure gradient created by the operations did not increase significantly (3.7 +/- 3.4 mm Hg to 5.5 +/- 3.5 mm Hg). The esophageal acid exposure decreased sufficiently to promote some alleviation of the esophagitis. Radiologic signs of stenosis regressed in 6 of 7 patients. Postoperative endoscopic assessment revealed complete or partial healing of erosions seen preoperatively in 6 of the 7 patients so studied, and healing of all ulcers in 3 patients. Twelve patients continued to have columnar metaplasia. Manometric studies disclosed no significant changes in propulsion and contractility. Distal esophageal resting pressures rose significantly from 6.2 to 9.4 mm Hg (p < 0.05 mm Hg), suggestive of stasis. Radionuclide transit studies, however, showed no significant decrease in the esophageal emptying capacity after operation. It is concluded that conventional antireflux operations in patients with scleroderma can palliate reflux damage without jeopardizing esophageal function.

Scleroderma and augmentation mammoplasty--a causal relationship?

BACKGROUND: The studies implicating a causal relationship between silicone and scleroderma, other autoimmune disease, and fibromyalgia-like symptoms have been largely descriptive with absence of appropriate controls and no consideration of potential confounders. This case control study of augmentation mammoplasty and scleroderma represents an attempt to answer these deficiencies. AIMS: To compare the frequency and temporal relationship of augmentation mammoplasty in interviewed and deceased cases and interviewed controls. To determine the frequencies of exposure to non-augmentation mammoplasty silicone, and to determine the frequencies of mastectomy and breast lumpectomy in interviewed cases and controls. METHODS: Scleroderma cases and age-stratified general practice controls were interviewed using a prepilotted telephone questionnaire. Self-reported date/s of augmentation mammoplasty were ascertained, as were dates of onset of first and second scleroderma symptom/s and scleroderma diagnosis, where relevant. Comparison of socioeconomically adjusted rates was expressed in terms of rate ratios. RESULTS: Augmentation mammoplasty rates were comparable between interviewed cases and controls. No augmentation mammoplasty procedures were documented in deceased scleroderma patients' medical records. Rates of exposure to non-mammoplasty silicone, mastectomy and breast lumpectomy were comparable in interviewed cases and controls. CONCLUSIONS: This study failed to demonstrate an association between silicone breast implantation and the subsequent development of scleroderma, to a relative risk level as low as 4.5 with 90% power.

[Association of autoimmune disease in primary biliary cirrhosis].

Association of autoimmune disease in patients with primary biliary cirrhosis (PBC) was described. Forty-one patients with asymptomatic PBC (a-PBC) and 13 patients with symptomatic PBC (s-PBC) were examined. The overall prevalence of autoimmune disease in association with PBC was 63%. There was no significant difference in the frequency of autoimmune disease association between a-PBC (63.4%) and s-PBC (61.5%). The most frequent complication was Sjögren's syndrome (31.7% in a-PBC and 38.5% in s-PBC). Raynaud's phenomenon was seen in 7 patients (12.2% in a-PBC and 15.4% in s-PBC). Five of these 7 patients showed the CREST syndrome having the anti-centromere antibody. Association of 3 polyarthritis, 2 autoimmune hepatitis, 2 Hashimoto's disease, 1 systemic lupus erythematosus, 1 polymyositis and 1 temporal arteritis was seen in a-PBC patients.

[Anti-centromere antibodies. Study of 67 positive sera]. / Anticorps anti-centromères. Etude de 67 sérums positifs.

From a series of 67 sera containing anticentromere antibodies we endeavoured to determine the principal clinical or biological peculiarities of these antibodies. The titers of anticentromere antibodies were usually high, with few differences between patients. Humoral immunity was frequently perturbed, with antinuclear autoantibodies (without anti-Scl 70), anti-mitochondria antibodies, rheumatoid factors, circulating immune complexes, etc. The disease predominated in women (97%) whose age and duration of symptoms varied considerably. The most frequent clinical manifestation noted in the 47 reports analyzed was Raynaud's phenomenon (93%) which in most cases (90%) was part of a complete or incomplete CREST syndrome. Telangiectasias, calcinosis and acrosclerosis were the main witnesses to the duration of these sclerodermas. Our findings were concordant with those of previous studies. However, the frequency of sicca syndrome (76%) was unexpected, and must be related to 2 laboratory results: the quasi-absence of anti-SSA and anti-SSB antibodies in our patients and the presence of two monoclonal immunoglobulins (IgM kappa and IgG lambda). There may be some degree of independence between the sicca syndrome and the sclerodermal manifestations.