Mucosal ulcerations revealing primitive hypereosinophilic syndrome.

We report the case of a 27 year-old man developing recurrent oral aphtosis associated with fever and 8 kg of weight loss. Moderate splenomegaly was observed on physical examination and neurological and cardiac examination were normal. Laboratory findings included marked eosinophilia at 3280 giga/l. Bone marrow (BM) examination revealed a myeloproliferative syndrome with mature eosinophils. Splenectomy was performed because of a suspected nodule on the BM, the histopathology revealed a myeloid metaplasia. The diagnosis of myeloproliferative form of hypereosinophilic syndrome (HES) was made. He was treated with interferon-alfa and hydroxyurea. After two years of treatment he had no ulcer recurrence and eosinophil count was at 180 giga/l. Mucosal manifestations as a prodromal symptom of HES are rare. The histology of the lesions shows numerous eosinophils; immunohistochemical analysis confirms the presence of eosinophil peroxydase, major basic protein and eosinophil derived neurotoxin. A few cases have been described. Death occurs 11 months to 5 years after the diagnosis of oral ulcerations. The treatment consists of interferon-alfa and hydroxyurea.

[What do general practitioners expect from internal medicine? Results of postal survey]. / Qu'attendent les médecins généralistes de la médecine interne? Résultats d'une enquête postale sur le secteur de la Loire et des départements limitrophes.

SUBJECT: The place of internal medicine in the French health care system is a matter of debate. In the process of writing down a project for the department of internal medicine of a University hospital, we decided to assess the expectations of general practitioners toward internal medicine in general, and toward this department in particular. METHODS: We carried out a postal survey over a population of general practitioners working in the referral area of our University hospital. The answers of physicians familiar or not with our department were compared with a chi 2 test. RESULTS: 852 questionnaires were sent over and 49.5% were returned. The general practitioners as a whole acknowledge the classical features of internal medicine: medicine dealing with diagnosis and taking in charge unexplained symptoms; holistic medicine in cases of multiple illnesses; medicine dealing with systemic diseases as well as medicine of "niches" (incidentalomas, orphan diseases). The specific orientations of this department of internal medicine are also well known by most physicians: a great majority (94%) of them are satisfied with the help they receive; they stress the need on swift sending of letters (74%); above all, 94% of them wish to obtain rapid appointments for their patients at their request. CONCLUSION: These results are in complete accordance with our aim of setting a general internal medicine department at the disposal of general practitioners. They do confirm that outpatient consultation is the hardcore of internal medicine that must be readily available to the patients referred by their general practitioner.

[Hereditary hemochromatosis]. / L'hémochromatose génétique.

INTRODUCTION: Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. CURRENT KNOWLEDGE AND KEY POINTS: In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. FUTURE PROSPECTS AND PROJECTS: The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmotabolic hepatosiderosis. Casos of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available.