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Pancytopenia and Myelofibrosis in Autoimmune Polyglandular Syndrome Type I
S20 Abstracts
SATURDAY
74
Pancytopenia and Myelofibrosis in Autoimmune Polyglandular Syndrome Type I M. Braskett, M. I. Garcia-Lloret, S. Howenstine, D. McCurdy, S. McGhee; UCLA, Los Angeles, CA. Autoimmune Polyglandular Syndrome Type I (APS I) is due to a defect in the autoimmune regulator gene (AIRE). Mucocutaneous candidiasis, Addison’s disease, hypoparathyroidism, other endocrinopathies, neural ectodermal dysplasia, malabsorption, and autoimmune hepatitis are clinical features of APS I. Immune mediated cytopenias are common. We describe myelofibrosis as an unusual complication of APS I. A 16 year old adolescent female, with clinical diagnosis of APS I, and all attributes described above, including pernicious anemia and neutropenia, presented with pancytopenia. She was DAT positive, hypergammoglobinemic with positive ANA and DsDNA titers. A bone marrow biopsy revealed a mildly hypocellular marrow with myeloid left shift, mild erythroid and megakaryocytic hyperplasia and increased lymphoplasmacytic infiltrate with delicate reticulin fibrosis. There were rare positive CD3 cells and scattered positive CD20, CD34 and CD117 cells. Bone marrow biopsy performed two years earlier demonstrated a cellular marrow with erythroid preponderance and marked megaloblastic and dysplastic changes, presence of giant bands and hypersegmented neutrophils, and scattered CD 117 positive plasma cells without evidence of fibrosis. AIRE encodes a transcription factor that enables negative selection of autoreactive thymocytes and may promote development of the regulatory T-cell subset. Myelofibrosis has been observed in other autoimmune diseases, most notably systemic lupus erythematosus. Additionally, primary autoimmune myelofibrosis was recently characterized as a syndrome associated with lymphocytic infiltration of the bone marrow interstitium. Accordingly, we postulate that myelofibrosis is a manifestation of APS I driven by autoreactive T cells. Funding: UCLA
75
Autoimmune Thyroiditis Developing In A Survivor Of Catastrophic Antiphospholipid Syndrome: A Case Report C. C. Ocampo, L. T. A. Aleta, M. W. Sumpaico; Section of Allergy and Immunology, Department of Medicine, University of the Philippines Philippine General Hospital, Manila, PHILIPPINES. RATIONALE: We report a case of autoimmune thyroiditis developing in a patient after an episode of Catastrophic Antiphospholipid Syndrome (CAPS), a life-threatening, multi-organ thrombosis occurring acutely. A Medline search failed to show prior reported events except for a few reports on Antiphospholipid Syndrome (APS) associated with thyroiditis. METHODS: A Case Report. RESULTS: This is a case of a 31 year-old female, G2P1 (1001), diagnosed with hyperthyroidism 2 years prior, given methimazole for 1 month, rendering her euthyroid. FT3 was low on her 9th week of this pregnancy, which normalized during her 24th week without any medications. Postcaesarean delivery, she developed sudden hypotension, oliguria, dyspnea, tachypnea and bradycardia. Laboratory findings showed thrombocytopenia, elevated liver enzymes, prolonged activated partial thromboplastin time, elevated D-dimer and Troponin-I. On echocardiography, multiseptal wall motion abnormality and ejection fraction of 30% were seen. CAPS was entertained, and she was treated with enoxaparin, hydrocortisone, and intravenous immunoglobulin with dramatic improvement. Eight months later, she developed hyperthyroidism with high titers of anti-thyroglobulin and anti-thyroid peroxidase, confirming the diagnosis of an autoimmune thyroiditis. She was given neomercazole for a month when she became hypothyroid. She was refractory to levothyroxine, hence total thyroidectomy was done. CONCLUSIONS: This case report identifies an association between 2 autoimmune phenomena, namely, the catastrophic antiphospholipid syndrome and autoimmune thyroiditis.
J ALLERGY CLIN IMMUNOL JANUARY 2007
76
Ischemic Events in Pacients with Systemic Lupus Erythematosus M. E. Flores1,2, M. E. Contreras1, I. A. Bello1, L. A. Aranguren1, E. Marti1; 1Universidad de Carabobo, Valencia, VENEZUELA, 2 Ciudad Hospitalaria Dr. Enrique Tejera, Valencia, VENEZUELA. RATIONALE: The aim of our study was to determinate the frequency of ischemic events in patients with Systemic Lupus Erythematosus(SLE), recognize the ischemic events more common and typify the risk factors. METHODS: We studied the clinic histories from the department of immunology of the Ciudad Hospitalaria ‘‘Dr. Enrique Tejera’’, ValenciaCarabobo, years 1990 to 2006. There were 369 patients with diagnosis of SLE. For the recollection of the data a filing card created by the authors was used, in whom data like: age, sex, diagnosis, ischemic event and risk factors were registered. RESULTS: The mean age of our cohort was 32 years. Ischemic events occurred in 87 patients (23.5%).The most common systemic ischemic event occurred was non digital ulcer (36.2%). Hypertension was documented in 40.5%, Raynaud phenomenon in 22.8%, and hyperlipidemia in 16.3% of patients. We also found that patients with more than two risk factors the risk for ischemia was increased more than seven times. CONCLUSIONS: the management of the risk factors for developing ischemic events will help the physician to prevent them in SLE patients.
77
Antibodies Anti-cmv In Patient With Myocardial Ischemia M. E. Flores Cha´vez1, M. Chaco´n de Petrola2, C. Celis3, A. Chiquito3, N. Figueroa3, I. Petrola4; 1Unidad de Inmunologia. Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA, 2Unidad de Investigaciones en Inmunologia Clinica. UC., Valencia, VENEZUELA, 3 Universidad de Carabobo, Valencia, VENEZUELA, 4Unidad de Cuidados Coronarios. Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA. RATIONALE: The direct action of the CMVor their antigenic determinat can induce changes in the vascular endothelium, contributing to the development of the atheromatous plaque. The objective of the present study was to look the presence of antibodies anti CMV in patient with acute myocardial ischemia (AMI). METHODS: It was studied 29 patients with diagnostic of AMI hospitalized in the area of coronary cares of the C.H.E.T: The determination of IgM and IgG, anti CMV (ELISA) was made in the first 48 hours. A control group of 30 healthy individuals, without antecedents of ischemic cardiopathy equivalent in age and sex. RESULT: 3.4% of the patient were IgM1 anti-CMV, in the control group was not positive cases. Serum concentrations of IgG in 48 hours were more risen in the group of patient with heart attack that in the group with chest angina (4.5263.34 IU/ml- 3.6962.39 IU/ml). They were not significant differences among the serum concentrations of IgG anti CMV between the total group of patient and the control group. CONCLUSION: Among the patients with acute myocardial ischemia illness the presence of IgM anti CMV was evidenced. The serum concentrations of IgG anti CMV is bigger when it exists myocardium necrosis that only ischemia. Funding: Consejo de Desarrollo Cientifico y Humanistico. Universidad de Carabobo
SATURDAY
74
Pancytopenia and Myelofibrosis in Autoimmune Polyglandular Syndrome Type I M. Braskett, M. I. Garcia-Lloret, S. Howenstine, D. McCurdy, S. McGhee; UCLA, Los Angeles, CA. Autoimmune Polyglandular Syndrome Type I (APS I) is due to a defect in the autoimmune regulator gene (AIRE). Mucocutaneous candidiasis, Addison’s disease, hypoparathyroidism, other endocrinopathies, neural ectodermal dysplasia, malabsorption, and autoimmune hepatitis are clinical features of APS I. Immune mediated cytopenias are common. We describe myelofibrosis as an unusual complication of APS I. A 16 year old adolescent female, with clinical diagnosis of APS I, and all attributes described above, including pernicious anemia and neutropenia, presented with pancytopenia. She was DAT positive, hypergammoglobinemic with positive ANA and DsDNA titers. A bone marrow biopsy revealed a mildly hypocellular marrow with myeloid left shift, mild erythroid and megakaryocytic hyperplasia and increased lymphoplasmacytic infiltrate with delicate reticulin fibrosis. There were rare positive CD3 cells and scattered positive CD20, CD34 and CD117 cells. Bone marrow biopsy performed two years earlier demonstrated a cellular marrow with erythroid preponderance and marked megaloblastic and dysplastic changes, presence of giant bands and hypersegmented neutrophils, and scattered CD 117 positive plasma cells without evidence of fibrosis. AIRE encodes a transcription factor that enables negative selection of autoreactive thymocytes and may promote development of the regulatory T-cell subset. Myelofibrosis has been observed in other autoimmune diseases, most notably systemic lupus erythematosus. Additionally, primary autoimmune myelofibrosis was recently characterized as a syndrome associated with lymphocytic infiltration of the bone marrow interstitium. Accordingly, we postulate that myelofibrosis is a manifestation of APS I driven by autoreactive T cells. Funding: UCLA
75
Autoimmune Thyroiditis Developing In A Survivor Of Catastrophic Antiphospholipid Syndrome: A Case Report C. C. Ocampo, L. T. A. Aleta, M. W. Sumpaico; Section of Allergy and Immunology, Department of Medicine, University of the Philippines Philippine General Hospital, Manila, PHILIPPINES. RATIONALE: We report a case of autoimmune thyroiditis developing in a patient after an episode of Catastrophic Antiphospholipid Syndrome (CAPS), a life-threatening, multi-organ thrombosis occurring acutely. A Medline search failed to show prior reported events except for a few reports on Antiphospholipid Syndrome (APS) associated with thyroiditis. METHODS: A Case Report. RESULTS: This is a case of a 31 year-old female, G2P1 (1001), diagnosed with hyperthyroidism 2 years prior, given methimazole for 1 month, rendering her euthyroid. FT3 was low on her 9th week of this pregnancy, which normalized during her 24th week without any medications. Postcaesarean delivery, she developed sudden hypotension, oliguria, dyspnea, tachypnea and bradycardia. Laboratory findings showed thrombocytopenia, elevated liver enzymes, prolonged activated partial thromboplastin time, elevated D-dimer and Troponin-I. On echocardiography, multiseptal wall motion abnormality and ejection fraction of 30% were seen. CAPS was entertained, and she was treated with enoxaparin, hydrocortisone, and intravenous immunoglobulin with dramatic improvement. Eight months later, she developed hyperthyroidism with high titers of anti-thyroglobulin and anti-thyroid peroxidase, confirming the diagnosis of an autoimmune thyroiditis. She was given neomercazole for a month when she became hypothyroid. She was refractory to levothyroxine, hence total thyroidectomy was done. CONCLUSIONS: This case report identifies an association between 2 autoimmune phenomena, namely, the catastrophic antiphospholipid syndrome and autoimmune thyroiditis.
J ALLERGY CLIN IMMUNOL JANUARY 2007
76
Ischemic Events in Pacients with Systemic Lupus Erythematosus M. E. Flores1,2, M. E. Contreras1, I. A. Bello1, L. A. Aranguren1, E. Marti1; 1Universidad de Carabobo, Valencia, VENEZUELA, 2 Ciudad Hospitalaria Dr. Enrique Tejera, Valencia, VENEZUELA. RATIONALE: The aim of our study was to determinate the frequency of ischemic events in patients with Systemic Lupus Erythematosus(SLE), recognize the ischemic events more common and typify the risk factors. METHODS: We studied the clinic histories from the department of immunology of the Ciudad Hospitalaria ‘‘Dr. Enrique Tejera’’, ValenciaCarabobo, years 1990 to 2006. There were 369 patients with diagnosis of SLE. For the recollection of the data a filing card created by the authors was used, in whom data like: age, sex, diagnosis, ischemic event and risk factors were registered. RESULTS: The mean age of our cohort was 32 years. Ischemic events occurred in 87 patients (23.5%).The most common systemic ischemic event occurred was non digital ulcer (36.2%). Hypertension was documented in 40.5%, Raynaud phenomenon in 22.8%, and hyperlipidemia in 16.3% of patients. We also found that patients with more than two risk factors the risk for ischemia was increased more than seven times. CONCLUSIONS: the management of the risk factors for developing ischemic events will help the physician to prevent them in SLE patients.
77
Antibodies Anti-cmv In Patient With Myocardial Ischemia M. E. Flores Cha´vez1, M. Chaco´n de Petrola2, C. Celis3, A. Chiquito3, N. Figueroa3, I. Petrola4; 1Unidad de Inmunologia. Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA, 2Unidad de Investigaciones en Inmunologia Clinica. UC., Valencia, VENEZUELA, 3 Universidad de Carabobo, Valencia, VENEZUELA, 4Unidad de Cuidados Coronarios. Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA. RATIONALE: The direct action of the CMVor their antigenic determinat can induce changes in the vascular endothelium, contributing to the development of the atheromatous plaque. The objective of the present study was to look the presence of antibodies anti CMV in patient with acute myocardial ischemia (AMI). METHODS: It was studied 29 patients with diagnostic of AMI hospitalized in the area of coronary cares of the C.H.E.T: The determination of IgM and IgG, anti CMV (ELISA) was made in the first 48 hours. A control group of 30 healthy individuals, without antecedents of ischemic cardiopathy equivalent in age and sex. RESULT: 3.4% of the patient were IgM1 anti-CMV, in the control group was not positive cases. Serum concentrations of IgG in 48 hours were more risen in the group of patient with heart attack that in the group with chest angina (4.5263.34 IU/ml- 3.6962.39 IU/ml). They were not significant differences among the serum concentrations of IgG anti CMV between the total group of patient and the control group. CONCLUSION: Among the patients with acute myocardial ischemia illness the presence of IgM anti CMV was evidenced. The serum concentrations of IgG anti CMV is bigger when it exists myocardium necrosis that only ischemia. Funding: Consejo de Desarrollo Cientifico y Humanistico. Universidad de Carabobo