T. Devos MD, PhD

Disease characteristics in Belgian myelofibrosis patients and management guidelines anno 2013

Summary

Diagnostic and management guidelines for myelofibrosis patients are presented in this paper. As a consequence of the rapid evolution and progress in this domain over the last years, the need was felt by the BHS MPN subcommittee to update these guidelines for our country. The different prognostic scores in myelofibrosis, the diagnostic tools and treatment options with the focus on new possibilities are discussed.

(BELG J HEMATOL 2013;4(4): 127–137)

Systemic mastocytosis: overview and new insights in prognosis and therapy

Summary

Systemic mastocytosis is an orphan myeloproliferative disease characterised by an excessive mast cell accumulation. Benign forms present with urticaria pigmentosa while aggressive subtypes or leukaemic variants lead to organ dysfunction. In patients with unexplained hypotensive syncope’s or anaphylaxis, flushing and angio-oedema with a basal tryptase >20 ng/mL, one should think of systemic mastocytosis. Pathophysiology is based on mutations in KIT, encoding the c-kit receptor (CD117) on the surface of mast cells. Diagnosis is based on bone marrow biopsies with clusters of atypical mast cells and co-expression of CD2 or CD25 and/or a KIT mutation. Treatment consists of avoiding triggers of mast cell release and antihistaminic drugs. Patients with aggressive subtypes are candidates for cytoreductive therapies. CD30 is thought to be a novel predictor of prognosis.

(BELG J HEMATOL 2013;4(3):85–89)

Pregnancy-Related Thrombotic Microangiopathy (TMA): Case series

Summary

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)

P.21 Coincidence of renal cell carcinoma and post-transplant lymphoproliferative disorder following kidney transplantation