BJH - volume 5, issue 1, march 2014
L. Duquenne MD, V. Schlesser PhD, Z. Jedidi MD, L. Plawny MD
Haemophilia C, also known as Rosenthal syndrome, is a rare disorder affecting essentially persons of Ashkenazi Jewish ascendancy. We report the case of a 79 year old patient without previous bleeding history, except for slight bruising, who presented with a severe retinal bleeding in the absence of trauma. Biology showed elevated activated partial thromboplastin time (77,7 seconds vs. normal range 30–36 seconds). Factor analysis showed isolated decreased Factor XI of 1%. No Factor XI inhibitor could be found. The patient was subsequently treated with Factor XI infusions which allowed a reduction of the bleeding and normal eyesight within four days. Spontaneous bleeding in old age is a rare inaugural sign of Factor XI deficiency, such episodes mostly occur after haemostatic challenge such as surgery or trauma leading to blood analysis and coagulation tests. Intraocular haemorrhage is an uncommon presentation of mild bleeding disorders.1–5
(BELG J HEMATOL;5(1):22–24)
Read moreBJH - volume 4, issue 4, december 2013
S. van Steijn MD, A. Van Damme MD, PhD, A. Malfroot MD, PhD, J. van der Werff ten Bosch MD, PhD
Haemolytic anaemia in childhood has an extensive differential diagnosis. We present a case of a twelve year old girl with haemolytic anaemia. A diagnosis of auto-immune haemolytic anaemia, probable Systemic Lupus Erythematosus was withheld. The girl was treated with immunosuppressive medication including prednisone and monoclonal anti-CD20 (Rituximab). After two years of follow-up a mediastinal mass was found and the diagnosis of Hodgkin’s lymphoma was confirmed. She was treated with chemotherapy and radiotherapy with good response. This case reminds us that Hodgkin’s lymphoma is not always an obvious diagnosis and that we should exclude this diagnosis in all patients with haemolytic anaemia or other auto-immune (like) manifestations.
(BELG J HEMATOL 2013; 4(4):148–150)
Read moreBJH - volume 4, issue 3, september 2013
L. Roosens PhD, K. Vermeulen PhD, A. Verlinden MD, H. Devos MD, E. Van Assche , I. Vrelust MD, M-B. Maes PhD, R. Malfait MD
Although a myeloid sarcoma is a rare form of extramedullary leukaemia, its early diagnosis has been proven to be of utmost importance. Its presence is strongly related to the onset or the presence of systemic bone marrow leukaemia. However, the diagnosis of myeloid sarcoma is not straightforward. In the existing literature, approximately half of the cases of myeloid sarcoma were initially misdiagnosed as lymphoma. The current case reports details on the laboratory diagnosis of myeloid sarcoma in a 25-year old male. The laboratory presentation of myeloid sarcoma and the consecutive steps in order to correctly diagnose myeloid sarcoma using a variety of laboratory techniques including microscopy, flow cytometry and cytogenetics are highlighted.
(BELG J HEMATOL 2013;4(3): 106–109)
Read moreBJH - volume 4, issue 2, june 2013
E. Philipse MD, T. Martens MD, A. Bufi MD, M. Kockx MD, P. Zachée MD, PhD, K. Wu MD, PhD
A 16-year-old Moroccan woman was referred to our centre because of bilateral cervical lymphadenopathy, high fever and weight loss. A malignant lymphoma was suspected in the lymph node biopsy. Histopathologic review of the lymph node biopsy showed extensive necrosis and nuclear debris with no viable remaining cells. A new lymph node biopsy was performed and the diagnosis of histiocytic necrotising lymphadenitis (Kikuchi-Fujimoto disease) was made. This is a rare, benign and self-limiting disease that mainly affects young women.
BELG J HEMATOL 2013;4(2):66–69)
Read moreBJH - volume 4, issue 1, march 2013
B. Al-Atia MD, T. Devos MD, PhD, G. Verhoef MD, PhD, D. Dierickx MD, PhD
Thrombotic microangiopathy (TMA) can be a key feature of several pregnancy related disorders such as thrombotic thrombocytopenic purpura (TTP ) / Haemolytic uremic syndrome (HUS), congenital TTP(CTTP), HELLP syndrome, or acute fatty liver (AFL). TMA is a life threatening condition in pregnancy. It encompasses a spectrum of different disorders with a similar pathogenesis, but in most of the cases completely different therapy. It can take several days to obtain the diagnosis, and in case of doubt therapeutic plasma exchange (TPE) (plasmapheresis with plasma substitution) should be started immediately to ensure better outcome. By measuring the activity of the von Willebrand-factor-cleaving protease (ADAMTS13), it may be possible to distinguish between the different causes of thrombotic microangiopathy. Pregnancy-related TMA can occur before or after birth. A Pregnancy-related TMA that develops during the puerperium, typically develops about the fourth day postpartum. No other significant differences are seen between antepartum and postpartum pregnancy related TMA. In critically ill patients it may be difficult to distinguish TMA from sepsis with disseminated intravascular coagulation (DIC). DIC is generally associated with prolongation of global clotting times, prothrombin time and activated partial thromboplastin time (PTT, aPTT) due to consumption of clotting factors. TMA occurs by primary activation of platelets (congenital or acquired abnormalities of ADAMTS13), and by primary endothelial injury (as with HELLP syndrome). Antepartum pregnancy-related TMA usually occurs at 28 ± 8 weeks of pregnancy.
(BELG J HEMATOL 2013;1:29–35)
Read moreBJH - volume 3, issue 4, december 2012
S. Drieghe PharmD, B. Cauwelier MD, PhD, T. Lodewyck MD, D. Selleslag MD, J. Van Droogenbroeck MD, A. Van Hoof MD, PhD, J. Van Huysse MD, J. Billiet MD
Intravascular lymphoma is a rare haematological malignancy characterised by neoplastic proliferation of lymphoid cells particularly within the lumina of capillaries, heterogeneity in clinical presentation, disseminated disease with aggressive behaviour and often fatal course. In the present case report, we describe four cases of intravascular lymphoma diagnosed in a single centre over a period of ten years.
(BELG J HEMATOL 2012;3: 149–154)
Read moreBJH - volume 3, issue 3, september 2012
E. Del Biondo MD, H. De Raeve MD, PhD, G. Huysmans MD, K. Hendrickx MD, E. Wouters MD, P. Vandenberghe MD, PhD, P. Meeus MD
The coincidence of a Janus Kinase 2 (JAK2) V617F positive myeloproliferative neoplasm (MPN) and a BCR-ABL1 positive chronic myeloid leukaemia (CML) is rare. We present a patient whose bone marrow and peripheral blood showed typical features of essential thrombocytemia (ET). However, the normalisation of the white blood cell (WBC) count after therapy with imatinib for a gastrointestinal stromal tumour (GIST) suggests that an underlying CML was masked, as witnessed by the very low levels of BCR-ABL1 at the haematological diagnosis. The question remains if this is a case of two separate myeloid malignancies or a secondary event (BCR-ABL1 fusion) in a primary JAK2 V617F + ET.
(BELG J HEMATOL 2012:3:105–107)
Read more
Top
