Factor V deficiency by acquisition of an inhibitor is a rare pathology whose cause is often idiopathic. The clinical phenotype can range from asymptomatic laboratory abnormalities to life-threatening bleeds. We report a case of acquired factor V deficiency diagnosed in our laboratory, which illustrates the diagnostic procedure and the etiological circumstances. Acquired factor V inhibitors develop in extremely rare cases via the development of alloantibodies or autoantibodies against factor V. Several diseases or conditions are associated with factor V inhibitors. In this observation, the predisposing factor was the autoimmune context; our patient has ulcerative colitis. The biological diagnosis of factor V inhibitors (aFVi) remains a challenge, which every biologist must think about when faced with an isolated FV deficiency not explained by hepatic involvement. It is a rare pathology but its occurrence is worrying for both the biologist and the clinician because of the absence of a validated therapeutic strategy.

The acute transformation of chronic myeloid leukemia has become a rare event since the introduction of tyrosine kinase inhibitors. Less than 3% of patients with CML transform to a megakaryoblastic leukemia. The diagnosis represents a challenge, due to the frequent association with myelofibrosis, thus requiring an osteo-medullar biopsy to confirm the diagnosis. We report the case of a megacaryoblastic blast crisis associated with myelofibrosis in a CML young female patient. A 32-year-old woman previously diagnosed with CML in chronic phase, on Tyrosine kinase inhibitors, presents with a clinical bone marrow failure. Blood counts showed pancytopenia. A peripheral blood smear revealed the presence of 30% blast cells, with a round nuclei, prominent nucleoli, and a very basophilic cytoplasm with cytoplasmic blebs. The diagnosis of a blast crisis in CML was retained. Bone marrow aspiration was practiced twice, and came back poor both times. A bone marrow biopsy practiced later confirming the diagnosis of acute leukemia associated to myelofibrosis. Immunophenotyping by flow cytometry was performed on peripheral bood, and revealed a blast population (76%) positive for CD45 (mild) and expressing the following markers CD33, CD34, CD41 and CD61, confirming the diagnosis of acute megacaryoblastic leukemia. Based on clinical presentation, bone marrow findings and flow cytometry, the diagnosis of CML with megakaryoblastic crisis associated to myelofibrosis at a 32-year-old woman was retained.

The lysosomal overload diseases constitute a heterogeneous group of rare constitutional diseases. In Morocco, these diseases remain very rare and under diagnosed. The diagnosis of certainty rests on enzymatic assay which can be long and difficult, unlike the discovery of a cytological anomaly thus allowing a fast tracking and early care management, hence the importance of the study of these pathologies at pediatric age and the installation of a register of rare pathologies. This present work aims to describe four clinico-biological observations of the overload diseases diagnosed in our laboratory.