Complete Atrioventricular Block and Cardiopulmonary Involvement in Rapidly Progressive Systemic Sclerosis

Abstract The heart and lung are target organs in systemic sclerosis (SSc) and similar symptoms (dyspnea and cough) may make the differential diagnosis between the two lesions difficult. In addition, complete atrioventricular block (CAVB) is a rare complication of this disease. This case report is about a patient with SSc and pulmonary fibrosis who was admitted to the emergency room with CAVB, heart failure (HF) and progressive worsening of the underlying disease.

Análise funcional e anatômica anorretal de pacientes femininas portadoras de esclerodermia em um centro universitário de referência em desordens do assoalho pélvico / Functional and anatomical analysis of the anorectum of female scleroderma patients at a center for pelvic floor disorders

ABSTRACT BACKGROUND: Scleroderma or progressive systemic sclerosis is characterized by a chronic inflammatory process with proliferation of fibrous connective tissue and excessive deposition of collagen and extracellular matrix in the skin, smooth muscle, and viscera. The smooth muscle most involved in scleroderma is that of the esophagus, and dysphagia is the most commonly reported symptom. However, the internal anal sphincter may also be impaired by degeneration and fibrosis, leading to concomitant anal incontinence in scleroderma patients. These patients may neglect to complain about it, except when actively questioned. OBJECTIVE: To assess anorectal function and anatomy of female scleroderma patients with symptoms of anal incontinence through Cleveland Clinic Florida Fecal Incontinence Score (CCFIS), anorectal manometry and endoanal ultrasound at the outpatient clinic of colorectal and anal physiology, Clinics Hospital, University of São Paulo Medical School (HC-FMUSP). METHODS: Female scleroderma patients were prospectively assessed and questioned as to symptoms of anal incontinence. The anorectal manometry and endoanal ultrasound results were correlated with clinical data and symptoms. RESULTS: In total, 13 women were evaluated. Their mean age was 55.77 years (±16.14; 27-72 years) and their mean disease duration was 10.23 years (±6.23; 2-23 years). All had symptoms of fecal incontinence ranging from 1 to 15. Seven (53.8%) patients had fecal incontinence score no higher than 7; three (23.1%) between 8 and 13; and three (23.1%) 14 or higher, corresponding to mild, moderate, and severe incontinence, respectively. Ten (76.92%) patients had hypotonia of the internal anal sphincter. Three-dimensional endoanal ultrasound showed tapering associated with muscle atrophy of the internal sphincter in six cases and previous muscle defects in three cases. CONCLUSION: A functional and anatomical impairment of the sphincter is an important factor to assess in patients with progressive systemic sclerosis and it should not be underestimated.

RESUMO CONTEXTO: Esclerodermia ou esclerose sistêmica progressiva caracteriza-se por um processo inflamatório crônico com proliferação e fibrose do tecido conjuntivo e uma deposição excessiva de colágeno e matriz extracelular na pele, musculatura lisa e vísceras. A musculatura lisa mais envolvida é a esofágica e a disfagia é o sintoma mais comumente relatado. Entretanto, o esfíncter anal interno também pode ser acometido por essa degeneração e fibrose ocasionando incontinência anal nos pacientes portadores de esclerodermia. Isso pode ser omitido pelo paciente, exceto quando questionado de forma direta. OBJETIVO: Analisar a função e anatomia anorretal através do escore de incontinência anal de Cleveland Clinic Florida, manometria anorretal e ultrassom endoanal em pacientes do sexo feminino portadoras de esclerodermia e sintomas de incontinência anal atendidas no ambulatório de Fisiologia Colorretoanal no Hospital das Clínicas da Universidade de São Paulo (HC-FMUSP). RESULTADOS: Treze pacientes do sexo feminino foram avaliadas com média de idade de 55,77 anos (±16,14; 27-72 anos) e duração média da doença de 10,23 anos (±6,23; 2-23 anos). O índice de incontinência anal teve variação de 1-15, sendo que sete (53,8%) pacientes apresentavam índice inferior a 7; três (23,1%) entre 8 e 13; e três (23,1%) superior a 14, correspondendo à incontinência anal leve, moderada e grave, respectivamente. Dez (76,92%) pacientes apresentavam hipotonia do esfíncter anal interno. O estudo da ultrassonografia endoanal de três dimensões demonstrou afilamento com atrofia do esfíncter anal interno em seis casos e defeito muscular em três pacientes. CONCLUSÃO: O prejuízo funcional e anatômico do complexo esfincteriano anorretal é um importante fator a ser analisado em pacientes portadores de esclerose sistêmica progressiva e isso não pode ser subestimado.

Low vitamin D serum levels in diffuse systemic sclerosis: a correlation with worst quality of life and severe capillaroscopic findings / Baixos níveis séricos de vitamina D na esclerose sistêmica difusa: correlação com pior qualidade de vida e alterações capilaroscópicas graves

ABSTRACT Objective: The aim of this study was to analyze the correlation of vitamin D levels with clinical parameters, bone mineral density (BMD), quality of life (QoL) and nailfold capillaroscopy (NC) in patients with diffuse systemic sclerosis (SSc). Methods: Thirty-eight female patients with diffuse SSc were analyzed regarding 25-hydroxyvitamin D (25OHD) serum levels. At inclusion, organ involvement, autoantibodies, modified Rodnan skin score (mRSS), Medsger Disease Severity Index (MDSI), body mass index (BMI), BMD, NC, Short-Form-36 Questionnaire (SF-36), and Health Assessment Questionnaire (HAQ), were performed through a standardized interview, physical examination and electronic chart review. Results: Mean 25OHD serum level was 20.66 ± 8.20 ng/mL. Eleven percent of the patients had 25OHD levels ≤10 ng/mL, 50% ≤20 ng/mL and 87% ≤30 ng/mL. Vitamin D serum levels were positively correlated with BMI (r = 0.338, p = 0.038), BMD-total femur (r = 0.340, p = 0.037), BMD-femoral neck (r = 0.384, p = 0.017), SF-36-Vitality (r = 0.385, p = 0.017), SF-36-Social Function (r = 0.320, p = 0.050), SF-36-Emotional Role (r = 0.321, p = 0.049) and SF-36-Mental Health (r = 0.531, p = 0.0006) and were negatively correlated with HAQ-Reach (r = −0.328, p = 0.044) and HAQ-Grip Strength (r = −0.331, p = 0.042). A negative correlation with NC-diffuse devascularization (p = 0.029) and NC-avascular area (p = 0.033) was also observed. Conclusion: The present study provides novel evidence demonstrating that low levels of 25OHD have a negative impact in diffuse SSc QoL and further studies are needed to define whether vitamin D supplementation can improve health related QoL in these patients. The additional observation of a correlation with severe NC alterations suggests a possible role of 25OHD in the underlying SSc vascular involvement.

RESUMO Objetivo: O objetivo deste estudo foi analisar a correlação entre os níveis de vitamina D e parâmetros clínicos, densidade mineral óssea (DMO), qualidade de vida (QV) e capilaroscopia periungueal (CPU) em pacientes com esclerose sistêmica difusa (ES). Métodos: Mensuraram-se os níveis séricos de 25-hidroxivitamina D (25OHD) de 38 pacientes do sexo feminino com ES difusa. No momento da inclusão, analisaram-se o envolvimento de órgãos, autoanticorpos, escore cutâneo de Rodnan modificado (ERM), Medsger Disease Severity Index (MDSI), índice de massa corporal (IMC), DMO, CPU, Short-Form-36 Questionnaire (SF-36) e Health Assessment Questionnaire (HAQ) por meio de uma entrevista padronizada, exame físico e avaliação de prontuário eletrônico. Resultados: A média do nível sérico de 25OHD foi de 20,66 ± 8,20 ng/mL. Dos pacientes, 11% tinham níveis de 25OHD ≤ 10 ng/mL, 50% ≤ 20 ng/mL e 87% ≤ 30 ng/mL. Os níveis séricos de vitamina D estiveram positivamente correlacionados com o IMC (r = 0,338, p = 0,038), DMO-fêmur total (r = 0,340, p = 0,037), DMO-colo femoral (r = 0,384, p = 0,017), SF-36-Vitalidade (r = 0,385, p = 0,017), SF-36-Aspecto social (r = 0,320, p = 0,050), SF-36-Aspecto emocional (r = 0,321, p = 0,049) e SF-36-Saúde mental (r = 0,531, p = 0,0006) e se correlacionaram negativamente com o HAQ-Alcance (r = –0,328, p = 0,044) e HAQ-força de preensão (r = –0,331, p = 0,042). Também foi observada uma correlação negativa com a CPU- desvascularização difusa (p = 0,029) e CPU-área avascular (p = 0,033). Conclusão: O presente estudo fornece evidências novas de que níveis baixos de 25OHD têm um impacto negativo sobre a qualidade de vida de pacientes com ES difusa e que são necessários mais estudos para definir se a suplementação de vitamina D pode melhorar a qualidade de vida relacionada com a saúde desses pacientes. A observação adicional de uma correlação com alterações graves na CPU sugere um possível papel da 25OHD no envolvimento vascular subjacente da ES.

Hipertensión arterial pulmonar por ecocardiografía en pacientes con enfermedades de tejido conectivo / Pulmonary hypertension associated with connective tissue diseases

Background: Pulmonary arterial hypertension is an important cause ofcomplica-tions amongpatients with connective tissue diseases. Aim: To describe the clinical and echocardiographic characteristics ofpatients with pulmonary hypertension associated with connective tissue diseases. Material and Methods: Retrospective, observational and descriptive study. We analyzed 35 patients with pulmonary hypertension associated with connective tissue diseases. All patients were evaluated and diagnosed by at least one medical specialist in rheumatology. Pulmonary arterial hypertension was defined as a pulmonary artery systolic pressure ≥ 40 mmHg by echocardiography. The group was divided as not severe when pressures ranged from 40 to 64 mmHg and severe, when pressures were ≥ 65 mmHg. Results: The most common connective tissue disease associated with pulmonary arterial hypertension was diffuse scleroderma in 46% of cases. Eighty nine percent of patients were female. Time of evolution of the pulmonary hypertension was 18.8 ± 21.8 months. The distance walked in the six minute walk test was < 400 m both in patients with and without severe pulmonary hypertension. Fifty one percent ofpatients had pulmonary restriction. No differences in gas exchange parameters were observed between groups. Comparing echocardio-graphic findings in patients with and without severe hypertension, the former had a higher frequency ofright ventricular dilatation (85.7 and 52.3% respectively, p = 0.04), right ventricular hypertrophy (42.8 and 0% respectively, p = 0.02) and right ventricular hypokinesia (71.4 and 9.5% respectively p = < 0.01). Conclusions: Patients with severe pulmonary arterial hypertension associated to connective tissue diseases have more commonly dilated, hypertrophic and hypokinetic right ventricles.

Avaliação da espessura do complexo médio-intimal da artéria carótida como marcador de aterogênese acelerada secundária a dano vascular na esclerose sistêmica progressiva / Evaluation of carotid artery intima-media complex thickness as a marker of vascular damage secondary to accelerated atherogenesis in progressive systemic sclerosis

OBJETIVO: Avaliar a espessura da camada médio-intimal da artéria carótida comum em pacientes com e sem esclerodermia e verificar possível associação com sua gravidade. MÉTODOS: Em estudo caso-controle, foram selecionados 30 pacientes com esclerodermia e 30 sem a doença e pareados de acordo com a idade, sexo, hipertensão arterial sistêmica, diabete melito e hipercolesterolemia. Todos os pacientes foram submetidos à avaliação das artérias carótidas pela ultrassonografia vascular de alta resolução e realizada a medida do espessamento da camada médio-intimal das carótidas comuns a 2cm da bifurcação carotídea. Em toda a análise foi considerado o maior valor da camada médio-intimal nas artérias carótidas direita e esquerda. RESULTADOS: A amostra foi composta de 30 pacientes estudados, sendo 29 (96,67%) mulheres e um homem (3,3%) com idade de 17 a 79 anos (média de 48 anos). Nesta amostra existiam 11/30 (36,67%) com hipertensão arterial, 5/30 (16,67%) com diabete melito, 6/30 (20%) com dislipidemia e 2/30 (6,67%) fumantes. Ao comparar a medida do maior risco (espessura máxima entre o lado esquerdo e o lado direito), obteve-se média de 0,77mm para o grupo esclerodermia e valor de 0,70mm para o grupo controle (p=0,212). Ao avaliar a associação entre gravidade da doença e a camada médio-intimal da carótida, não se encontrou associação significativa (p=0,925). CONCLUSÃO: Encontra-se discreto aumento do espessamento da camada médio-intimal da artéria carótida comum em pacientes com esclerodermia, mas sem significância estatística. Com relação à gravidade da doença e o espessamento da camada médio-intimal da carótida comum, não foi verificada diferença.

OBJECTIVE: To evaluate the intima-media thickness of the common carotid artery in patients with and without scleroderma; to verify a possible association with disease severity; to assess the relationship of intima-media thickness with known cardiovascular risk factors. METHODS: In a case-control study, were selected 30 patients with scleroderma and 30 without the disease and matched according to age, sex and cardiovascular risk factors such as hypertension, diabetes mellitus and hypercholesterolemia. The age ranged from 17 to 79 years (mean 49). All patients underwent carotid artery evaluation by high-resolution vascular Doppler in order to measure the intima-medial thickness of the carotid 2 cm from the bifurcation. In all the analysis was considered the greatest value of intima-media thickness in right and left carotid arteries. RESULTS:The sample consisted of 30 patients, being 29 (96.67%) women and one man (3.3%). In this sample, 11/30 (36.67%) had high blood pressure, 5/30 (16.67%) had diabetes mellitus, 6/30 (20%) had dyslipidemia and 2/30 (6.67%) were smokers. Comparing the measure of the increased risk (maximum intima-media thickness between the left and right side), was obtained an average of 0.77 mm for group scleroderma and a value of 0.70 mm for the control group (p = 0.21). In assessing the association between disease severity and carotid intima-media thickness, was found no significant association (p= 0.925). CONCLUSION: Was found a slight increase in intima-medial thickness of common carotid artery in patients with scleroderma but without statistical significance. Regarding the severity of the disease and intima-medial thickness of common carotid artery, there was no significant difference.

Unusual presentation of progressive systemic sclerosis.

A female 38 years old, housewife, presented to the Department of Dermatology and Venereology, Mymensingh Medical College Hospital (MMCH) on 08.04.07 with the complaints of i) pain and reduced movement of hand, knee, shoulder and neck joints for 1 year and 9 months ii) tightness of skin over face, neck, limbs and trunk for 1 year and 6 months iii) patchy depigmentation over same areas for 1 year and 3 months iv) deformity of hands with flexion contractures for 6 months and v) dysphagia to solid food for 3 months. She had no complaints of Raynaud's phenomenon. On general examination, she was ill looking, anemic and nutritionally poor. Examination of integumentary system showed smooth, shiny, thick, hard and hidebound skin with pigmentary alteration of 'salt and pepper' appearance over fingers, hands, limbs, face, neck and trunk. Hands appear claw like but more on the right side than the left and there were no other obvious changes suggestive of digital ischaemia (atrophy, ulceration, scarring, gangrene etc). Face has got suggestive features of scleroderma. Examination of the respiratory system showed restriction of chest movement and reduced expansibility of chest wall. No other abnormality was found on examination of other systems. Laboratory investigations showed histopathology typical of scleroderma. X-ray of hands and feet showed suggestive changes, lung function test-showed restrictive lung disease. Barium swallow x-ray of esophagus in supine position showed mild dilation of lower oesophagus. But serology was non-reactive (negative ANA, Negative RA test, Negative VDRL). So, she was diagnosed as a case of progressive systemic sclerosis (PSS) with some atypicality.