Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna最新文献

Antibodies against factor VIII occur in about 15-35% of hemophilia A patients and induce refractoriness to factor VIII substitution. In very rare cases, factor VIII inhibitors also develop in association with various autoimmune and chronic inflammatory diseases, hematologic malignancies, solid tumors, certain drugs, dermatologic conditions, and in puerperium. In the majority of cases, the clinical course is characterized by severe hemorrhages. Strategies to treat such inhibitors are controversial. We present the case of a patient with generalized pustular psoriasis who developed severe bleeding complications due to an acquired factor VIII inhibitor, after lymph node and skin biopsy. Initial treatment with high doses of human factor VIII concentrate was unsuccessful. Hemorrhage was partially controlled by the administration of recombinant activated factor VII. Subsequently, the human factor VIII was reinitiated in association with immunosuppressive therapy with prednisone. Within 8 weeks this combined modality achieved a complete remission of bleeding, a normalization of coagulation parameters and a complete disappearance of the inhibitor. Our case illustrates that, although the clinical course in patients with acquired factor VIII inhibitor is not predictable and the inhibitor may disappear spontaneously, combined modality with replacement and immunosuppressive therapy should be considered for patients with severe and refractory hemorrhages.

Celiac disease is not a negligible cause of malabsorption in the elderly. Diarrhea, loss of weight and abdominal discomfort are often absent so that celiac disease has indeed a subtle, paucisymptomatic, course in the elderly. More than 50% of the patients have extraintestinal symptoms; only 10-40% have typical complaints pointing to small-intestinal biopsy. Elimination of gluten from diet is the cornerstone of the therapy. A 73-year-old woman with hyporexia, loss of weight, depression, bowel abnormalities and progressive deterioration of her abilities in the instrumental activities of daily living was referred to our department. Antigliadin and antiendomysial antibodies were present. A subsequent small-intestinal biopsy of the second and third portion of duodenum showed subtotal villous atrophy, increase of intra-epithelial lymphocytes as well as hyperplastic glands (type III Marsh score). All these pathological findings were compatible with celiac disease diagnosis so that a gluten-free diet was then initiated.

In the past, celiac disease (CD), or intolerance to gluten, was considered a rare disease of infancy characterized by chronic diarrhea with malabsorption and delayed growth. Besides the overt enteropathy, there are other clinic and subclinical forms which appear later in life. Target organs are not limited to the gut, but include liver, thyroid, skin and female and male reproductive systems. CD interference on reproduction is related to the multifactorial nature of the disease, whose pathological manifestations can be modulated, besides gluten, by different concurrent genetic and environmental factors. CD induces malabsorption with consequent deficiencies of micronutrients such as iron, folic acid and vitamin K, which are essential for organogenesis, and fat-soluble vitamins important for spermatogenesis. Regarding endocrine disorders, the deficiencies of specific trace elements on ovarian function could explain its involvement in the increased risk of female osteoporosis in CD patients. Affected males show a picture of tissue resistance to androgens; the increases of follicle-stimulating hormone and prolactin, not associated with infertility, may indicate an imbalance at hypothalamus-pituitary level, with general effects on health. Since reproductive alterations are reversible, adoption of a gluten-free diet supported by early diagnosis is important. Therefore, the detection of early biomarkers, such as deficiencies of vitamins and/or iron and andrological or endocrinological dysfunctions, should trigger timely strategies for prevention and treatment.

A case of Dercum's disease in a 51-year-old obese woman with a history of brain vasculitis, and painful subcutaneous multiple lipomas is described. This disease, included in the category of rare diseases by the World Health Organization, first described in 1892 by Francis Xavier Dercum, is characterized by its prevalence among women, its familiarity, by the presence of multiple painful subcutaneous lipomas and its association with obesity, hypercholesterolemia and asthenia. The disease has to be differentiated from Madelung syndrome, the multiple familiar lipomatosis and Proteus' syndrome. The quality of life of the patients is often poor and since treatments so far have not been conclusive a better knowledge of the pathogenesis of the disease is desirable.

Non-invasive diagnostic techniques such as electron beam computed tomography and multislice spiral computed tomography are able to detect and quantify coronary calcifications. Several clinical studies have shown how the amount of coronary calcifications correlates to the coronary plaque burden. The detection of coronary calcium therefore provides a unique opportunity to identify and quantify coronary atherosclerosis in a subclinical stage. Measures of subclinical atherosclerosis may also help in recognizing factors related to atherosclerosis in asymptomatic populations. In addition, a significant proportion of subjects who develop premature clinical disease are not identified as being at high risk by current strategies. A scan negative for coronary calcium has a high negative predictive value indicating the absence of stenotic coronary artery disease. The aim of this review was to describe the potentials of coronary calcium detection and to summarize its clinical relevance.

Protein energy malnutrition due to anorexia nervosa, either restrictive or bulimic, requires an integrated medical psychiatric intervention to be treated. The aim of this study was to evaluate the effectiveness of this integrated treatment in severely malnourished anorectic patients requiring to be hospitalized in Psychiatry Unit. Fifteen patients (14 females, 1 male, mean age 19.6 +/- 4.7 years, body mass index 14.0 +/- 1.9 kg/m2) 13 of whom affected by restrictive anorexia nervosa and 2 by bulimic anorexia nervosa, have been hospitalized in the Psychiatry Unit of the Federico II University Hospital, Naples from September 2000 to July 2003, always without requiring compulsory sanitary treatment. Hospitalization was due to failure of the outpatient treatment in all of them, complicated by uncontrolled weight loss in 7, hydroelectrolytic unbalance in 2, edema in 1 patient. All were hypotensive and 4 had marked bradycardia. Forced nutrition was never necessary. Enteral nutrition by nasogastric tube was prescribed in 4 patients, oral nutrition supplements with diet in 4 and only diet in the remaining 7. All patients received vitamin and mineral supplements, if necessary parenterally. A mild body weight increase and satisfactory normalization of biochemical parameters was obtained in all patients during hospitalization. Thereafter they were enrolled in an outpatient integrated medical/psychiatric protocol, including group therapy. Only in 1 case, a few months later, a second hospitalization was necessary. In conclusion, integrated medical psychiatric treatment represents an effective intervention also in severely malnourished anorectic patient requiring hospitalization.

Our research is based on the critical evaluation of plasma concentration variation of B-type natriuretic peptide (BNP)--in emergency--in paroxysmal atrial fibrillation, acute pulmonary edema, acute coronary syndrome and dilated cardiomyopathy. The aim of our research was to assess if the BNP concentration variation may be useful in the diagnosis and therapy. Peptide synthesis takes place mainly in the ventricular myocardium. We selected 102 patients: 27 control subjects, and 75 admitted to the emergency and reception department for dyspnea and/or precordialgia and/or palpitations. At the beginning they were considered as one group only, and then they were divided into groups according to the diagnosis: 20 with paroxysmal atrial fibrillation with reversion to sinus rhythm in the first week; 20 with acute pulmonary edema; 22 with acute coronary syndrome without electrocardiographic ST-segment changes; 13 with compensated dilated cardiomyopathy. Our research assessed that the BNP activation and secretion are evident especially in patients with heart failure and remains at the high level until the administration of an effective therapy and then they reach a balance with values higher than the standards, while in the paroxysmal atrial fibrillation and in acute coronary syndrome they rise and come back to the standard levels or even at lower levels after the disease solution. For this reason, BNP reiterated measurements allow to assess treatment efficacy, even at home, and to optimize the therapy. The main limit of BNP diagnostic role is in the need of knowing in advance the specific values for each patient. The BNP concentration evaluation in the acute phase is necessary to differentiate patients with dyspnea due to heart failure from those with pulmonary pathologies, while the BNP assessment in the acute coronary syndrome predicted exitus or heart failure manifestations.