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.

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.

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 authors present 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 serum and urinary levels of light chains and the diagnosis was performed by renal biopsy, examined using immunofluorescence and by electron microscopy that showed light chain paraproteins. Nephropathy of light-chain deposition disease occurs due to an over-production of light chains from immunoglobulins produced by B lymphocytes with a deposit in tubular and glomerular membranes.

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.

Essential thrombocythaemia is a chronic myeloproliferative disorder characterized by the proliferation of megakaryocytes in the bone marrow, leading to a persistent increase in circulating platelets. Apart from this increase (>600 x 10(9)/L) this disease also exhibits accentuated hyperplasia of the megakaryocytes in the bone marrow, splenomegaly and clinically both thrombotic and haemorrhagic episodes. The etiology of this illness is largely unknown and the clinical manifestations are mostly asymptomatic, thus the diagnostic is often accidentally made. Here the case report of a 71-year-old male patient is discussed, who was admitted into hospital due to occlusion of the femoral artery requiring re-vascularisation. The physical exam showed that the patient suffered several other symptoms related to essential thrombocythaemia. In conclusion, this is a grave, potentially fatal disease which needs further study to determine the etiology. Early diagnosis and treatment are crucial for a good prognosis.