Plasmic score applicability for the diagnosis of thrombotic microangiopathy associated with ADAMTS13-acquired deficiency in a developing country

ABSTRACT Background: Thrombotic thrombocytopenic purpura (TTP) is a potentially fatal disease that requires early diagnosis and treatment that can be made possible by applying the PLASMIC score. This study aims to evaluate this score applicability for patients with suspected TTP in a developing country. Methods: This was a retrospective study performed at a tertiary hospital in the northeastern region of Brazil. Patients were analyzed in two groups: ADAMTS13 activity <10% and activity >10%. Patients were stratified according to the PLASMIC score, and the level of agreement between the PLASMIC score and the ADAMTS13 activity was evaluated. Results: Eight patients with thrombotic microangiopathy were included. Four patients had ADAMTS13 activity <10%, all with a PLASMIC score =6. The other four had ADAMTS13 activity >10%, all with a score <6. Based on a score =6 for presumptive diagnosis of TTP, we attained a 100% diagnostic accuracy in our sample. The PLASMIC score was also able to accurately predict response to plasma exchange and the risk of long-term unfavorable outcomes. Conclusions: The reproducibility of the PLASMIC score was quite satisfactory in our sample. It accurately discriminates between patients who had ADAMTS13 deficiency and those with normal enzyme activity, precluding the need for specific laboratory evaluation, which is not always available. This score can be useful for an early diagnosis and indicates which patients will benefit from the treatment in developing countries.

Plasmic score applicability for the diagnosis of thrombotic microangiopathy associated with ADAMTS13-acquired deficiency in a developing country.

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is a potentially fatal disease that requires early diagnosis and treatment that can be made possible by applying the PLASMIC score. This study aims to evaluate this score applicability for patients with suspected TTP in a developing country. METHODS: This was a retrospective study performed at a tertiary hospital in the northeastern region of Brazil. Patients were analyzed in two groups: ADAMTS13 activity <10% and activity >10%. Patients were stratified according to the PLASMIC score, and the level of agreement between the PLASMIC score and the ADAMTS13 activity was evaluated. RESULTS: Eight patients with thrombotic microangiopathy were included. Four patients had ADAMTS13 activity <10%, all with a PLASMIC score =6. The other four had ADAMTS13 activity >10%, all with a score <6. Based on a score =6 for presumptive diagnosis of TTP, we attained a 100% diagnostic accuracy in our sample. The PLASMIC score was also able to accurately predict response to plasma exchange and the risk of long-term unfavorable outcomes. CONCLUSIONS: The reproducibility of the PLASMIC score was quite satisfactory in our sample. It accurately discriminates between patients who had ADAMTS13 deficiency and those with normal enzyme activity, precluding the need for specific laboratory evaluation, which is not always available. This score can be useful for an early diagnosis and indicates which patients will benefit from the treatment in developing countries.

Dengue and aplastic anemia--a rare association.

Aplastic anemia is a medullary insufficiency secondary to the complete or partial disappearance of hematopoietic tissue without abnormal cellular proliferation. This is a rare complication of infections, such as dengue hemorrhagic fever. A 15-year-old girl was admitted with anemia, bleeding from the gums, petechiae and fever. Laboratory tests at the time of admission showed: Hemoglobin 4.8 g/dl; Hematocrit 13.4%; white blood count 2240/microl and platelets 11,500/microl. Dengue virus IgM antibodies were found. A bone marrow aspirate and biopsy showed severe aplastic anemia. Treatment with intravenous immunoglobulin and methylprednisolone was started. The patient had a favorable outcome. She was then given long-term treatment with cyclosporin. She is now in remission, without any symptoms. Dengue can induce aplastic anemia through direct bone marrow invasion. This is a rare complication which must be identified early. Immunosuppressive therapy can induce complete remission.

Sarcoma granulocítico com apresentação inicial cutânea e ganglionar: [carta ao editor] / Granulocytic sarcoma of skin and lymph nodes: [letter to the editor]

A case of granulocytic sarcoma of skin and lymph nodes is reported in a 65-year-old man as an initial presentation of a myeloproliferative disorder, chiefly involving myelofibrosis. The symptoms, physical examination, hematological findings, imunohistochemistry and anatomopathological results and evolution of the disease are described. As this is an unusual case, stress was placed on the diagnostic confusion that may occur.

Anemia crônica e glomerulopatia secundárias à Doença de Depósito das Cadeias Leves / Chronic anemia and glomerulopathy secondary to Light-chain Deposition Disease

Os autores relatam o caso de uma paciente do sexo feminino, 65 anos de idade, internada com anemia de longa evolução que se associou posteriormente a uma glomerulopatia manifestada por proteinúria, cilindrúria e perda de função renal. As cadeias leves no plasma e na urina estavam elevadas, sobretudo a fração kappa e uma biópsia renal estudada por imunofluorescência e microscopia eletrônica confirmou o diagnóstico de Doença de Depósito das Cadeias Leves. A nefropatia de cadeia leve ocorre pela superprodução de cadeia leve de imunoglobulina produzida por linfócitos B com deposição nas membranas tubulares e no glomérulo.

The autorpresent a case of a 65 year-old female patient, with chronic anemia associated with glomerulopathy manifested as proteinuria, cylindruria and renal failure. There were high serumand urinary levels of light chains and the diagnosis wasperformed by renal biopsy, examined using immunofluorescenceand by electron microscopy that showed light chain paraproteins.Nephropathy of light-chain deposition disease occurs due to anover-production of light chains from immunoglobulins producedby B lymphocytes with a deposit in tubular and glomerularmembranes.

Hemoglobinúria paroxística noturna: relato de dois casos / Paroxysmal nocturnal hemoglobinuria: two case reports

A Hemoglobina Paroxística Noturna (HPN) é uma doença adquirida da stem cell hematopoética caracterizada por anemia hemolítica crônica, episódios trombóticos, e com freqüência pancitopenia. É uma desordem clonal, causada por mutação somática do gene PIG-A ligado ao cromossomo X, o qual é requisitado para a formação da estrutura da âncora glicosil-fosfatidil-inositol (GPI). A deficiência da GPI ancorada á proteína CD59 explica a hemólise intravascular na PNH, resultando da inabilidade dos eritrócitos inativar a superfície do complemento. Uma imensa relação clínica existe entre HPN e a anemia aplástica (AA). A ausência de GPI ancorada às proteínas é facilmente detectada pelos métodos de citometria de fluxo aplicados aos eritrócitos e leucócitos; os testes de Ham a da sucrose são absolutos. Em algumas vezes o tratamento com corticóides e/ou androgênio é útil. O transplante de medula óssea alogênico é curativo. O objetivo deste artigo é relatar dois casos de HPN com revisão, enfatizando os aspectos fisiopatológicos, clínicos, diagnósticos e tratamento da HPN.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disease characterized by chronic hemolytic anemia, thrombotic episodes and often pancytopenia. It is a chronic disorder caused by a somatic mutation of the X-linked gene PIG-A, which is required for formation of the glycosylphosphatidylinositols (GPI) - anchor structure. Deficiency of the GPI-anchored protein CD59 explains intravascular hemolysis in PNH, which results from the inability of erythrocytes to inactivate the surface complement. A very strong clinical relationship exists between aplastic anemia (AA) and PNH.Absence of GPI-anchored proteins is easily detected by flow cytometric methods applied to both erythrocytes and leukocytes; the Ham and sucrose tests are now obsolete. Treatment with glucocorticoids and / or androgen is sometimes helpful. Allogeneic hematopoietic cell transplantation is curative. The aim of this work is to relate two cases of PNH with review emphasizing the pathophysiological, clinical and diagnostic features and therapy for PNH.