ABSTRACT
Essentials Extramedullary hematopoiesis (EMH) represents a pathologic finding in adult life. We report a mass-like EMH in the presacral space in a patient with ANKRD26-related thrombocytopenia. We found possible correlation between EMH and conditions causing lifelong thrombocytopenia. EMH can cause masses of unknown origin in patients with inherited thrombocytopenias. SUMMARY: Most commonly located in the liver and spleen, extramedullary hematopoiesis (EMH) is the presence of hematopoietic tissue outside the bone marrow. MYH9-related thrombocytopenia (MYH9-RD) and ANKRD26-related thrombocytopenia (ANKRD26-RT) are two of the most frequent forms of inherited thrombocytopenia (IT). Until recently, EMH has been associated with neoplastic and non-neoplastic hematologic conditions in which ITs were not included. We describe a case of mass-like EMH in the presacral space in a patient affected with ANKRD26-RT, comparing it with another case of paravertebral EMH we recently described in a subject with MYH9-RD. The surprisingly similitude of such a finding in the context of a group of rare disorders induces us to speculate about the possible pathogenic relationship between EMH and conditions causing lifelong thrombocytopenia, particularly the entity of ITs. Finally, we suggest that EMH has to be taken into consideration in the diagnostic work-up of masses of unknown origin in subjects affected with ITs.
Subject(s)
Hematopoiesis, Extramedullary/genetics , Mutation , Nuclear Proteins/genetics , Thrombocytopenia/genetics , Aged , Biopsy, Needle , Bone Marrow Examination , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Heredity , Humans , Immunohistochemistry , Intercellular Signaling Peptides and Proteins , Pelvis , Phenotype , Positron Emission Tomography Computed Tomography , Spleen/diagnostic imaging , Thrombocytopenia/blood , Thrombocytopenia/diagnosisABSTRACT
Bleeding diathesis has been considered for a long time the main clinical issue impacting the lives of patients affected by inherited thrombocytopaenias. However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these 'new' disorders revealed that most of them are at risk of developing additional life-threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count. For instance, it is known that mutations in RUNX1, ANKRD26 and ETV6 cause congenital thrombocytopaenia, but we now know that they also predispose to haematological malignancies. Similarly, MYH9 mutations result in congenital thrombocytopaenia and increase the risk of developing kidney failure, cataracts and hearing loss at a later stage, while MPL mutations cause a congenital thrombocytopaenia that almost always evolves into deadly bone marrow failure. Thus, identification of patients with these disorders is essential for evaluation of their prognosis, enabling effective genetic counselling, personalizing follow-up and giving appropriate treatments in case of development of additional diseases. Careful clinical evaluation and peripheral blood film examination are extremely useful tools in guiding the diagnostic process and identifying the candidate genes to be sequenced.
Subject(s)
Genetic Diseases, Inborn/complications , Hemorrhage/etiology , Thrombocytopenia/complications , Clinical Decision-Making , Diagnosis, Differential , Disease Management , Genetic Association Studies , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/therapy , Genetic Predisposition to Disease , Hemorrhage/diagnosis , Hemorrhage/therapy , Humans , Phenotype , Thrombocytopenia/diagnosis , Thrombocytopenia/therapyABSTRACT
BACKGROUND: Distinguishing inherited thrombocytopenias from immune thrombocytopenia (ITP) can be difficult, and patients are therefore at risk of misdiagnosis and inappropriate treatments. Although it is known that the most common inherited forms of thrombocytopenia are characterized by increased platelet size, the diagnostic power of this feature has never been investigated. OBJECTIVES: The aim of this study was to test the hypothesis that platelet size can be used to differentiate ITP from inherited macrothrombocytopenias. PATIENTS/METHODS: We measured mean platelet volume (MPV) and mean platelet diameter (MPD), within 2 h of blood sampling, in 35 patients with inherited macrothrombocytopenias [15 MYH9-related disease (MYH9-RD), three biallelic and 17 monoallelic Bernard-Soulier syndrome (BSS)], and 56 with ITP. Using receiving operating characteristic analysis, we searched for the best cut-off values to differentiate between these conditions. RESULTS: As expected, platelets were larger in inherited macrothrombocytopenias than in ITP. An MPD larger than 3.3 mum differentiated MYH9-RD and BSS from ITP with 0.89 sensitivity and 0.88 specificity, and an MPV larger than 12.4 fL had 0.83 sensitivity and 0.89 specificity. Combining MPD with MPV increased sensitivity and specificity to 0.97 and 0.89, respectively. CONCLUSION: Platelet size evaluation by both an appropriate cell counter and blood film examination is useful for differentiating inherited macrothrombocytopenias from ITP.
Subject(s)
Blood Platelets/pathology , Thrombocytopenia/pathology , Bernard-Soulier Syndrome/diagnosis , Bernard-Soulier Syndrome/pathology , Blood Coagulation Disorders, Inherited/diagnosis , Blood Coagulation Disorders, Inherited/pathology , Cell Size , Cytodiagnosis/methods , Diagnosis, Differential , Humans , Molecular Motor Proteins , Myosin Heavy Chains , Purpura, Thrombocytopenic, Idiopathic/diagnosis , Purpura, Thrombocytopenic, Idiopathic/pathology , Thrombocytopenia/diagnosisABSTRACT
Lipoprotein-x (Lp-x) was tested by electrophoresis technique and its cuali and quantitative determination was realized on the sera of thirty five patients with cholestasis compared with a control group without the presence of lipoprotein. The results of our study set up that this lipoprotein means an improvement in the cholestasis diagnosis. We point up its importance as a diagnostic proof with the classic determinations.
Subject(s)
Cholestasis/blood , Hyperlipidemias/blood , Lipoprotein-X/blood , Bilirubin/blood , Cholestasis/enzymology , Electrophoresis, Agar Gel , Humans , Liver Function TestsABSTRACT
Se realizo la determinacion de Lp-x por la -9, 1981 y cuantitativo fue efectuado en el suero de treinta y cinco pacientes colestaticos, comparado con un grupo testigo en los que no se detecto la presencia de esta lipoproteina.Los resultados de este estudio afirman, que el hallazgo de esta lipoproteina significa un marcado avance en el diagnostico de la colestasis. Remarcamos su importancia como un metodo diagnostico superior a las pruebas bioquimicas clasicas
Subject(s)
Cholestasis , Lipoprotein-XABSTRACT
Lipoprotein-x (Lp-x) was tested by electrophoresis technique and its cuali and quantitative determination was realized on the sera of thirty five patients with cholestasis compared with a control group without the presence of lipoprotein. The results of our study set up that this lipoprotein means an improvement in the cholestasis diagnosis. We point up its importance as a diagnostic proof with the classic determinations.
ABSTRACT
Se realizo la determinacion de Lp-x por la -9, 1981 y cuantitativo fue efectuado en el suero de treinta y cinco pacientes colestaticos, comparado con un grupo testigo en los que no se detecto la presencia de esta lipoproteina.Los resultados de este estudio afirman, que el hallazgo de esta lipoproteina significa un marcado avance en el diagnostico de la colestasis. Remarcamos su importancia como un metodo diagnostico superior a las pruebas bioquimicas clasicas
