ABSTRACT
A 42-year-old previously healthy woman presented with a 2-month history of recurrent fever and painful swelling on the left thigh. She was given a presumptive diagnosis of cellulitis and an antimicrobial. Because the response was not significant and fever remained moderate to high grade, with the appearance of gradually increasing periorbital edema (Figure 1), the diagnosis was reconsidered, and she was referred to a tertiary referral center for further study.
Subject(s)
Edema/diagnosis , Edema/etiology , Face/pathology , Lymphoma, T-Cell/complications , Lymphoma, T-Cell/diagnosis , Panniculitis/complications , Panniculitis/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Skin Neoplasms/diagnosisABSTRACT
Von Willebrand disease is the most common inherited bleeding disorder, with autosomal genetic transmission, dominant in most cases. It is due to quantitative and/or qualitative deficiency of Von Willebrand factor, a multimeric complex glycoprotein that plays 2 central roles in hemostasis, since it is implicated in adhesion and aggregation of platelets under conditions of high shear forces and acts as a carrier for coagulation factor VIII in plasma. Clinically, this disease is mostly characterized by mucocutaneous bleeding and marked clinical heterogeneity, even in the same family, going from severe to uncouth forms or even asymptomatic. Laboratory diagnosis is based on 3 levels of hemostasis testing. Screening tests making suspicion of the disease, must be completed by specific assays to estabilish the diagnosis. Discriminating tests allow accurate characterization of the numerous types and subtypes of the disease, a crucial step to adapt therapeutics. The classification based on the accumulating knowledge of the different phenotypes, differentiate between quantitative (types 1 and 3) and qualitative deficiencies (types 2). Von Willebrand disease's diagnosis is not, often easy. In fact, several technical or genetic factors and different physiopathological circumstances interfere in the interpretation of explorations results and cause diagnostic difficulties that will be discussed.
Subject(s)
von Willebrand Diseases/diagnosis , Blood Coagulation Tests/classification , Diagnosis, Differential , Factor VIII/physiology , Genes, Dominant/genetics , Humans , Phenotype , Platelet Activation/physiology , von Willebrand Diseases/classification , von Willebrand Diseases/genetics , von Willebrand Factor/classification , von Willebrand Factor/physiologyABSTRACT
The interpretation of biological exam results requires the knowledge of physiological variation factors and reference values for every parameter. Following the preparation and the diffusion by the International Federation of Clinical Chemistry (IFCC) of a new reference material for the dosage of plasmatic proteins (CRM470) and in order to take part in the international effort of standardization of these dosages, we established reference ranges in the tunisian population for 9 plasmatic proteins: the Immunoglobulines G, A and M, complement factors C3 and C4, albumin, transferrin, haptoglobin and the a 1-glycoprotéin acid. Our sample of 211 healthy blood donors aged between 18 and 63 years. Reference limits 0.95 that we obtained are located within variation of most reference values lately found in the literature.
