Cardiac, pulmonary and other body changes in children with gaucher disease during therapy

Gaucher disease is a multisystemic lipidosis characterized by hematologic problems, organomegally, skeletal involvement with or without neurological affection. The aim of the study is to identify the multisystemic involvements in children with Gaucher disease and to evaluate the effect of enzyme replacement therapy [ERT] on such patients. This study included 40 patients with Gaucher disease attending the Hematology Unit, Pediatric University Hospital during the period from January to December 2012. All cases were subjected to full history taking, thorough clinical examination, complete blood count, abdominal ultrasonography, radiological examination of the chest, distal end of femur and proximal end of tibia, EEC, echocardiography, Doppler echocardiography, tissue Doppler echocardiography and High Resolution C.T chest [HRCT]. Results: Significant differences were detected between cases and controls in weight, height and skull circumference [p value < 0,001]. Patients during ERT showed a significant decrease in frequency of epistaxis and blood transfusion than those before ERT [p value < 0.05]. Patients during ERT showed a significant increase in mean Hb level and platelet count than those before ERT [p value < 0.05]. There were no significant differences between the two groups of patients regarding the radiological bone changes and neurological aspects of Gaucher disease. Conclusion: Gaucher disease must be suspected in any child with organomegally, bone problems, bleeding tendency with or without neurological affection. ERT is effective in the management of hematological and visceral aspects of Gaucher disease. ERT has no role in the neurological aspect of Gaucher disease

Early detection of macro vascular diseases of carotid and femoral arteries in patients with Rheumatoid arthritis

Rheumatoid arthritis [RA] is a multi-system disorder with inflammatory process associated with increased cardiovascular risk. The duplex scanning is a noninvasive technique to detect early atherosclerotic plaques and arterial wall changes either in symptomatic or asymptomatic patients. Early detection of asymptomatic vascular disorders allows early intervention and possibly retards the development of symptomatic cardiovascular diseases. A higher risk of cardiovascular morbidity and mortality persists among patients with an abnormal ankle brachial index [ABI] and it is useful to identify asymptomatic patients with established disease. To detect the early manifestations of atherosclerotic changes of carotid and femoral arteries in patients with rheumatoid arthritis. Twenty-four patients with chronic rheumatoid arthritis [six males and eighteen females] aged 26-65 years [45.7 +/- 14.7 years] with mean disease duration 11.12 +/- 6.4 years [2-18 year] were included in the study. All patients were on methotrexate, corticosteroids and nonsteroidal anti-inflammatory lines of treatment. Twenty apparently normal subjects were included in the study as controls. Patients with other types of collagen diseases or patients with ischemic peripheral manifestations, ischemic heart disease, diabetics or smokers were excluded from the study. Full history and thorough clinical examination, including full joints and vascular examination for all peripheral arteries and calculation of ankle brachial index [ABI] was done using pocket Doppler and sphygmomanometer. Patients and controls were subjected for Hb, WBC, platelet count, rheumatoid factor, blood sugar, ESR, levels of plasma cholesterol, triglyciride, HDL and LDL. Duplex study was performed on carotid and femoral arteries. The mean ABI in patients was 1.21 +/- 0.3, non-significantly lower than controls but still within the range of normal. There was a significant increase in the levels of cholesterol, triglyciride, LDL and HDL than controls and still within the range of normal. Duplex changes of carotid and femoral arteries were present in 18/24 [75%] of patients including hemodynamic changes, intimal thickness, plaques, stenotic segment. Duplex of carotid arteries detected hemodynamic changes in 12.5%, intimal thickness, plaques and stenotic segment in 25% of patients for each and detected intimal thickness of femoral arteries in 25% of patients. There was a significant negative correlation between the ABI and duration of disease [r = - 0.506, p<0.01] and a significant positive correlation between the intimal thickness and duration of disease [r =-0.807, p<0.001]. There was no relation between drug intake or type of drug and ABI or intima thikness and there was no relation between cholesterol, triglyciride, LDL or HDL levels and ABI or intimal thickness. There is increased risk of vascular disease in RA patients involving carotid and femoral arteries in the form of hemodynamic changes, intimal thickness, plaques and stenotic segment. Low ABI together with Duplex study are helpful for detection of subclinical ischemic changes in such high-risk patients. Normal levels of plasma cholesterol, triglyciride, HDL and LDL do not exclude underlying vascular changes. So we recommend ABI and Duplex examination for all RA patients and further studies are needed to elucidate non-traditional risk factors such as endothelial dysfunction, immune activation and impaired fibrinolysis in addition to oxidative stress