RESUMO
To elucidate the role of genetics in familial multiple myeloma, two sisters having plasma cell dyscrasia were studied. The women were 58 and 56 years old, and the diagnoses were made 22 months apart. Specific antisera for patient 1's lambda light chains produced in rabbits had no cross-reactivity with her sister's lambda light chains. Karyotypic analysis by G.T.G. banding revealed abnormalities in both patients, but no common abnormalities. HLA typing disclosed identical tissue types (AW24, A26, B13, BW55). An immunologic epidemiologic study performed on 26 family members, encompassing four generations, disclosed no additional cases of paraproteinemia.
Assuntos
Mieloma Múltiplo/genética , Feminino , Antígenos HLA/análise , Humanos , Imunoglobulinas/análise , Cariotipagem , Pessoa de Meia-Idade , Mieloma Múltiplo/epidemiologia , Mieloma Múltiplo/imunologia , LinhagemRESUMO
The authors report a case of eosinophilia-myalgia syndrome with a progressive neuromyopathy. Progressive weakness, myalgia, and dermatitis developed in the patient described after chronic ingestion of high-dose L-tryptophan for insomnia. Laboratory, electrophysiologic, and muscle biopsy results support the diagnosis of an inflammatory myopathy consistent with that of eosinophilia-myalgia syndrome. The patient's weakness led to wheelchair dependency. A review of the literature regarding this disorder shows inconsistent results with steroid and other modes of therapy. After a course of high-dose steroids with long-term tapering and vigorous inpatient and outpatient rehabilitation, the patient was able to walk and function independently within 2 months.
Assuntos
Síndrome de Eosinofilia-Mialgia/tratamento farmacológico , Adulto , Síndrome de Eosinofilia-Mialgia/reabilitação , Feminino , Humanos , Metilprednisolona/uso terapêutico , Prednisona/uso terapêuticoAssuntos
Reticulócitos , Anemia Hemolítica/sangue , Anemia Hemolítica Autoimune/sangue , Anemia Mielopática/sangue , Anemia Falciforme/sangue , Medula Óssea/fisiopatologia , Eritropoetina/análise , Cardiopatias/sangue , Hematócrito , Humanos , Hipóxia/sangue , Nefropatias/sangue , Esferocitose Hereditária/sangueAssuntos
Axila , Doença de Hodgkin/patologia , Linfonodos/patologia , Adolescente , Adulto , Idoso , Feminino , Doença de Hodgkin/cirurgia , Humanos , Laparotomia , Masculino , Pessoa de Meia-Idade , EsplenectomiaAssuntos
Antineoplásicos/administração & dosagem , Mieloma Múltiplo/tratamento farmacológico , Carmustina/administração & dosagem , Ciclofosfamida/administração & dosagem , Quimioterapia Combinada , Hospitais Comunitários , Humanos , Melfalan/administração & dosagem , Prednisona/administração & dosagem , Vincristina/administração & dosagemAssuntos
Adenocarcinoma/tratamento farmacológico , Androgênios/uso terapêutico , Antineoplásicos/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Progestinas/uso terapêutico , Androgênios/administração & dosagem , Antineoplásicos/administração & dosagem , Quimioterapia Combinada , Feminino , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Metástase Neoplásica , Regressão Neoplásica Espontânea , Progestinas/administração & dosagem , Fatores de TempoRESUMO
PURPOSE: Alpha 2-Antiplasmin (AP) deficiency is a rare congenital bleeding disorder that presents with normal screening tests for platelet function and clotting. We believe that this disorder is frequently overlooked, especially in women with unexplained bleeding. PATIENTS AND METHODS: We report on two families and one single patient with heterozygous AP deficiency. RESULTS: All patients and most relatives with the defect had a mild bleeding tendency. CONCLUSIONS: We suggest the incorporation of the AP assay in all patients who have a bleeding disorder with normal platelet studies and normal clotting profiles.