P400 Fabry disease — a family under study and treatment

S142

Abstracts

I European

Journal

of Internal

significantly associated with oxygen utilisation at home (OR 1.5) PO2< 60 at admittance (OR 1.6) auricular flutter (OR 1.6) and more than two hospital admittances in the 12 prior months (OR 1.7); this latter circumstance occurred in 60 cases (19%). Mean number of admittances in the previous 12 months was 2.1 for the failures en 1.7 for the rest (pcO.06). We identified 32 ER (10%). On univariant analysis, ER was significantly associated with oxygen utilisation at home (OR 2.8) steroid treatment on admittance (OR 1.3), ischemic heart disease (OR 2.8) oedema (OR 2.5) the presence of bullae on chest X-rays (OR 4.4) and more than 2 admittances in the prior 12 months (OR 1.2). On multivariant analysis, only corticoid treatment and the presence of bullae were significantly associated to ER. Conclusion: Predicting hospital stay in COPD is extremely difficult. Besides clinical judgement it is possible to achieve some accuracy through a scoring system based on selected features of each patient. However, local variability in the standard of care should be taken into account.

P397 Pulmonary function’s test and diffusive capacity in patients after autologus bone marrow transplantation - prospective estimation W. Pierzchala, A. Rozewicz (Katowice, P) Lungs are one of the organs threatened after bone marrow transplantation. Some complications (including the obliterations of brionchioli) are connected with graft versus host diseases which occur mainly after allogenic bone marrow transplantation. The functioning conditions of the lungs in patients within one year’s period of time after autologus bone marrow transplantations were traced. Were checked pulmonary function’s tests (PFT) after transplantation and then compared with the study before the transplantation. The statistically significant decrease in intrathoracal gas volume (ITGV) value and the lowering of total lung capacity (TLC) values in the third month after transplantation plus a significant decrease in 1 second forced expiratory volume (FEVl%) before transplantation was observed in a group of patients who died. A very low risk of obturating syndrome occurance after autologus transplantation was noted. In the studies was noted also the statistical decrease in diffuse capacity (DLco) in the third month after transplantation with normalization after one year (DLco before bone marrow transplantation (BMT) - 77.27%, DLco in 3 month after BMT - 65.6%, p = 0.02211). The lower values of DLco in patient with lymphoma were observed (DLco in patient with lymphoma: before BMT - 74.76%, in 3 month after BMT - 71.27%. DLco in patient with leukemia: before BMT - 86.42%, in 3 month after BMT - 66.10%). References Cerveri 1. et al. Thorax 1999;54:131-135. Gore E.M. et al. Int. J. Radiotion Oncology

P398 A case of pulmonary D. Colunga, C. Orejas, Ribas (Asturias, E)

amyloidosis V. Carcaba,

Biol.

Phys.

1996;36:67-75.

with unusual features N. Hooker, A. Femandez

V&quez,

.I.

Aim: To present a case of pulmonary amyloidosis (PA) with atypical features and evolution. Case history: A 26-year-old Caucasian female, smoked 30 cigarettes a day. A professional cleaner, she reported usual inhalation of toxic agents (detergents, solvents). She reported a dry cough and a constutional syndrome for the last year, and an exertion dyspnoea for the last two months. Physical examination was normal. The following laboratory abnormalities were found: haemoglobin 10.8 mg/dl, 10,200 leucocytes (69% neutrophiles), proteinogram with excess alfa-2-globulines. Thoracic

Medicine

14 (2003)

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radiography showed a diffuse bilateral alveolar-interstitial pattern, predominantly in upper lobes interpreted as bronchiectasis in an initial thoracic CT scan (TCTS). Sweat test and VIH serology (-). Sputum samples for Koch bacilli investigation were impossible to obtain. Clinical and radiological follow-up was decided. Three months later, having stopped smoking and on sick leave, she was asymptomatic and a TCTS showed improvement, with nodular images and a reticula-nodular pattern in middle and upper lobes. A videothoracoscopy guided lung biopsy was obteined, and the anatomopathological diagnosis was PA, predominantly interstitial, around bronchi, vasa and pleural. Immunohystochemical examination confirmed the presence of AL amyloid. Systemic amyloidosis was sought in vain, and no monoclonal peak was found, either in blood or urine. No abnormal cell population was found in bone marrow either. Respiratory function measurements (RFM) were normal, Having been followed up for a year, successive TCTSs show a progressive regression of the lesions. Conclusions: 1) The patient’s age, the double lung radiologic lesion (nodular and interstitial), and its regression are exceptional. 2) With no systemic disease, normal RIM and spontaneous radiologic improvement, the prognosis is good in spite of interstitial involvement. 3) We suggest the existence of a direct noxa acting on the lung that triggered the production and deposit of AL amyloid, whose disappearance would explain the favourable evolution.

P399 Carcinoid H. Castro,

tumour of the lung C. Marinho (Porro, P)

Introduction: Carcinoid tumours are rare neuroendocrine tumours derived from enterochromaffin cells. They are characterised histologically by positive reactions to silver stains and to markers of neuroendocrine tissue; biologically and clinically according to secreted substances; and by their origin from embryonic divisions of the gut. They are often indolent and assymptomatic. Carcinoid syndrome is uncommon. Pulmonary carcinoids make up for 10% of these tumours and 2% of primary lung tumours. Typically they are well-differentiated, with metastases in less than 15%. They may have neuroendocrine manifestations such as Cushing’s syndrome, acromegaly and carcinoid syndrome (5%). Case presentation: The authors present a clinical case of a 72-year-old woman with a pulmonary left mass, diagnosed in chest X-ray. She had a history of hypertension and hyperlipidemia. She did not have any respiratory complaints, tachycardia or palpitations. She did complain of episodes of diarrhoea and post-prandial flushing for several months. Physical examination revealed no pathologic findings. The following diagnostic exams were done: abdominal ultrasonography - 2 nodular tumours (hemangiomas) and a distended gallbladder with thick wall and multiple gallstones; thoracic computarized tomography - solid tumour in the apical posterior left segment with 4.5 X 3.6 cm, adjacent to the aortic arch for 2.5 cm and to the bifurcation of the pulmonary left artery, with no lymph node enlargement; fibreoptic bronchoscopy - obstructive solid tumour in the left superior lobe; biopsy - well-differentiated carcinoid tumour; scintigraphic imaging - no metastases were found; hormonal measurement: (24 hour 5-hidroxyindoleacetic acid, gastrin and vasoactive intestinal polypeptide) was negative. The patient was submitted to and incomplete resection of the tumour. She is now assymptomatic. Conchsion; Although rare, the carcinoid turnouts, even those welldifferentiated and non productive may impose a increased morbidity and mortality mostly in the older population, as in these case. for local demage.

Miscellaneous II P400 Fabry

disease

- a family

under

study

and treatment

Abstracts L. Brito

Avo,

.I. Ducla

Soares,

A. Palma

Carlos

I European (Lisbon,

Journal

of Internal

P)

Fabry disease is a Glycosphingolipidosis, a genetic induced alteration of lysosome storage. Mutations of the Enzyme aGalactosidase A (c&AL) gene lead to the accumulation in the tissues, particularly vascular endothelium, of intermediary glycoproteins of the Ceramide pathway, principally Globotriosilceramide (GL3), causing organ damage and dysfunction. X-linked genetic transmission is believed to be dominant, with full clinical expression in homozygote and in variable degree for female heterozygotes. Its prevalence is estimated in males as l/ 100.000, and currently we detected 15 patients in Portugal. Of these, 4 belong to the family here reported. Until 4 years the attitude towards this disease was palliative and terminal renal insufficiency, and premature death by myocardial infarction or cerebra-vascular disease was the natural evolution. Actually safety and efficacy of enzyme replacement therapy (ERT) is comproved. 3 of our patients benefit from this regimen since 1 year. The clinical picture of the patients is briefly described and a new mutation of the (uGAL gene is presented, as unique and non-described in the literature, that is present in all of them. We report the evolution of the 3 patients under ERT, assessed as monitoring acroparesthesia and neuropathic pain by a brief pain inventory scale, autonomic function testing, cornea1 opacities by slit lamp measuring, cardiac dysfunction by ECG and Echography, and renal insufficiency by creatinina clearence and proteinuria. These items and determinations of blood olGAL activity and urine GL3, along treatment, confirm in all of them improvement of some instances and stabilization of others. Antibody to the treatment enzyme were not found. ERT is completely changing the perspective and prognosis of this ‘orphan’ storage lysosome disease. In the last few years in Europe, Japan and US were published series of patients under ERT with very encouraging results. We believe that the positive evolution of this Portuguese family represents a part of this new exciting and promising medical intervention towards this pathology.

P401 Tobacco advertising J. Montes, L. Alvarez,

in Spain: The Neverending L. Gonzalez (Pontevedra,

Story

Medicine antidrug directed

14 (2003)

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campaigns have been abandoned. fundamentally to young people.

s143 The

advertising

P402 Familial amyloid polyneuropathy - an atypical presentation C. Duarte, R. Sousa, A. Melo, P. Peixinho, T. Cruz, N. Braganea P)

claims

are

case (Lisbon,

Amyloidosis is a systemic disease in which an abnormal protein, known as amyloid, accumulates in various tissues of the body, sometimes causing organ failure and other serious complications. This disorder often eludes the clinician with its myriad clinical manifestations and diagnosis is usually not made until the disease is far advanced. Familial amyloid polyneuropathy (FAP) is an hereditary condition, caracterized by liver production of a mutated form of transthyretin (TTR), and manifests itself with the appearance of amyloid in the peripheral and autonomic nervous systems decades later. So, the disease generally manifests as a severe sensory, motor and autonomic neuropathy. Cardiomiopathy, nephropathy, vitreous opacities, carpal tunnel syndrome and less frequently gastrointestinal ulcers may occur in isolation or in variable association with the neuropathy. Liver transplantation from a donor with normal ‘ITR genes has been shown to replace the circulating abnormal form of this protein with normal TTR and the reduction of disease progression, which hold the hope for a cure. The authors report a FAP case of a 65-year-old man without familial history, presenting with gastrointestinal bleeding and sensorimotor polineuropathy. The duodenogastroscopy revealed multiple and giant mucosal ulcers and electromyogram confirmed polyneuropathy of hands and feets. Biopsies from the abdominal fat aspirate and gastric mucosae both proved the existence of amyloid by Congo red stain and the screening sera for the presence of TTR Met 30 was positive. Later, the patient developed heart failure and the echocardiogram showed an hypertrophic cardiomiopathy with dyastolic dysfunction. After staging the disease, supportive measure was the treatment of choice for this patient. This case was of particular interest by its unusual presentation with gastrointestinal bleeding, in an older patient without familial history of FAP.

E)

Objective: Tobacco advertising is a powerful factor of initiation and maintenance of the consumption, particularly among young people. In this work we compared the direct publicity of tobacco in written mass media in two consecutive years (2002 and 2003) in Spain. Methods: We conducted a weekly cross-sectional study of announcements inserted in the 41 more widely difused written mass media in Spain (weeks: 10/02/2002 and 17/02/2003). Newspapers and general information supplements, sport and magazines for youngs and adults were included. In both years the total average readers were > 10 millions, in accordance with data of the Office of Justification of the Diffusion (OJD). For the total population demographic projections to 31/ 12/2001 were used. Results: The tobacco announcements constituted 2.0% (2002) and 4.3% (2003) of the global inserted publicity. In media admitting tobacco publicity this was 4.3% (2002) and 6.8% (2003) respectively. In 34.1% (2002) and 46.3% (2003) of media there was publicity of tobacco (ascending of 42.4% (2002) to 50.2% (2003) of total readers). On the other hand, only in 4% of mass media (7% of total readers) (2002) and none (2003) antidrug institutional campaigns were inserted. All that means that in readers 1 out of 3 (2002) and 1 out of 2 (2003) and in global population 1 out 8 Spanish people > 15 years (2002) and 1 out 7 (2003). received the impact of tobacco advertisement. In contrast, only 1 out 20 (2002) and none (2003) received antidrug publicity. In both years >85% of advertising claims were identified with youthful symbols. Conclusions: The publicity of tobacco maintains a significant presence in written mass media and is increasing in Spain. In contrast, informative

P403 Adverse drug reactions prospective observational M. Vasco, L. Pinheiro, (Lisbon, P)

(ADR) in an Internal Medicine Department: study of 589 patients J. Albuquerque, M. Lucas, R.M.M. Victorino

Introduction: ADR are an important cause of hospital admissions in Internal Medicine Departments with associated morbidity and mortality, namely in the polimedicated geriatric population. Objectives: To study the incidence of new ADR in an Internal Medicine ward and to identify admissions motivated by ADR, along with the general drug prescription profile. Material and methods; Prospective data collection on the patients admitted to an Internal Medicine ward of a Central Hospital with clinical interview and chart analysis according to a previously elaborated protocol (demographic and clinical information, relatedness of the admission to ADR; drug consumption prior and during hospital stay, description of the ADR identified). The suspected ADR were assessed in meetings with 3 investigators who rated the probability of each ADR case in a scale of 1 to 4. Results: In a total of 589 admissions 108 (18.3%) cases of ADR were identified. Fifty percent of ADR were the cause or contributed to hospital admission. The average age was 63.3 years and the average length of stay was 12.4 days. In 66 patients (61.1%) at least one risk factor for ADR was identified. The average number of drugs taken during hospital stay was 9, with a predominance of cardiovascular drugs (16.9%). digestive