vitamin-b-12 and Purpura--Thrombotic-Thrombocytopenic

Haemolytic uremic syndrome and thrombotic thrombocytopenic purpura are overlapping clinical entities based on historical classification. Recent developments in the unfolding of the pathomechanisms of these diseases resulted in the creation of a molecular etiology-based classification. Understanding of some causative relationships yielded detailed diagnostic approaches, novel therapeutic options and thorough prognostic assortment of the patients. Although haemolytic uremic syndrome and thrombotic thrombocytopenic purpura are rare diseases with poor prognosis, the precise molecular etiology-based diagnosis might properly direct the therapy of the affected patients. The current review focuses on the theoretical background and detailed description of the available diagnostic possibilities, and some practical information necessary for the interpretation of their results.

Topics: ADAM Proteins; ADAMTS13 Protein; Analgesics, Non-Narcotic; Antimalarials; Complement System Proteins; Diagnosis, Differential; Hemolytic-Uremic Syndrome; Humans; Neuraminidase; Prognosis; Purpura, Thrombotic Thrombocytopenic; Quinine; Shiga Toxins; Streptococcus pneumoniae; Vitamin B 12; von Willebrand Factor

Classically, deficiencies of vitamin B

Topics: Anemia, Hemolytic; Female; Folic Acid; Folic Acid Deficiency; Humans; Middle Aged; Purpura, Thrombotic Thrombocytopenic; Thrombotic Microangiopathies; Vitamin B 12; Vitamins

Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure.. We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay.. This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay.

Topics: ADAMTS13 Protein; Anemia, Hemolytic; Humans; Infant; Male; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12; Vitamin B 12 Deficiency

Thrombotic microangiopathies (TMAs) are a group of life-threatening conditions requiring urgent management and characterized by a clinical triad of microangiopathic hemolytic anemia, thrombocytopenia, and ischemic tissue injury. Severe vitamin B12 (Cobalamin-Cbl) deficiency or defective cobalamin metabolism, particularly defects in intracellular B12 metabolism, may lead to a TMA-like picture. The latter has been termed metabolism-mediated TMA (MM-TMA). This confusing picture is mediated partly by ineffective erythropoiesis with significant red cell fragmentation resulting in a hemolytic pattern, coupled with reduced platelet production and endothelial injury with organ damage resulting from accumulated toxic byproducts of B12 dysmetabolism. However, unlike in classic thrombotic thrombocytopenic purpura, where therapeutic plasma exchange has to be initiated promptly, cases of MM-TMA can be treated, if diagnosed properly, with adequate B12 replacement.

Topics: Humans; Purpura, Thrombotic Thrombocytopenic; Thrombotic Microangiopathies; Vitamin B 12

Acquired vitamin B

Topics: Aged; Aged, 80 and over; Anemia, Hemolytic; Female; Humans; Purpura, Thrombotic Thrombocytopenic; Thrombotic Microangiopathies; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B12 deficiency and folate deficiency are common causes of macrocytic anaemia and both are important for many cellular processes. These deficiencies could be due to inadequate dietary intake, impaired absorption or drug ingestion. We present a case of a 47-year-old male with a history of diffuse large B-cell lymphoma (DLBCL) who was admitted for fatigue, persistent frontal headache and left upper-quadrant abdominal pain. Further investigation showed that he had pancytopenia with microangiopathic haemolytic anaemia (MAHA) and intracranial bleeding (ICB). Serum vitamin B12 and folate were later found to be low and a diagnosis of combined vitamin B12 and folate deficiency mimicking thrombotic thrombocytopenic purpura (TTP) was made. The patient responded well to vitamin B12 and folate replacement.

Topics: Anemia, Hemolytic; Folic Acid; Humans; Male; Middle Aged; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Hemolytic; Anemia, Megaloblastic; Folic Acid; Humans; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12

Vitamin B. We report a case of a 46-year-old Moroccan man presenting with severe hemolytic anemia, thrombocytopenia, and renal failure in absence of macrocytosis, thus mimicking a genuine thrombotic thrombocytopenic purpura. Rapid improvement of renal function observed with only hydration and transfusions of packed red blood cells and the presence of pancytopenia suggested a bone marrow deficiency associated to a hemolytic component of unclear origin. Detection of low levels of vitamin B. Diagnosis of pseudothrombotic thrombocytopenic purpura caused by vitamin B

Topics: Acute Kidney Injury; Diagnosis, Differential; Erythrocyte Transfusion; Fluid Therapy; Humans; Kidney Function Tests; Male; Middle Aged; Purpura, Thrombotic Thrombocytopenic; Thrombotic Microangiopathies; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins

Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia that requires emergent treatment with plasma exchange and is one of the most important conditions for which apheresis service professionals are consulted. Careful interpretation of initial laboratory values and the peripheral blood smear is a critical first step to determining the need for plasma exchange because other conditions can show deceptively similar red cell morphology, and ADAMTS13 levels are often not rapidly available.. We report a case of a patient who was initially diagnosed with TTP and treated with plasma exchange based on preliminary laboratory data and a peripheral blood smear that contained bizarre microcytic red blood cells presumed to be schistocytes. The peripheral blood smear was later interpreted by the hematopathologist to be inconsistent with TTP, and further workup led to a diagnosis of severe vitamin B12 deficiency secondary to pernicious anemia.. This case highlights the diagnostic complexity of thrombotic microangiopathies and the importance of a critical evaluation of the blood smear and presenting laboratory data when there is a concern for TTP.

Topics: Adult; Anemia, Pernicious; Diagnosis, Differential; Female; Humans; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12; Vitamin B 12 Deficiency

Pernicious anaemia is an autoimmune disease caused by intrinsic factor antibody; it leads to vitamin B12 deficiency and is marked by ineffective erythropoiesis. Haematological features reveal macrocytosis, hyperchromasia and hypersegmented neutrophils. Schistocytes are typically seen in microangiopathy, such as in thrombotic thrombocytopaenic purpura (TTP)/haemolytic uraemic syndrome or disseminated intravascular haemolysis (DIC). We report a case of a patient with severe anaemia who presented to the emergency room. Peripheral smear revealed macrocytosis, hypersegmented neutrophils and marked schistocytosis. The patient also had high reticulocyte count with high serum lactate dehydrogenase, elevated D-dimer, low fibrinogen and low haptoglobin. Vitamin B12 level came back low and the presence of intrinsic factor antibody confirmed pernicious anaemia. ADAMTS13 level was noted to be mildly reduced, which raised the suspicion of the association of acquired TTP with pernicious anaemia. Acquired TTP is another autoimmune disorder and its association with pernicious anaemia needs further evaluation.

Topics: ADAM Proteins; ADAMTS13 Protein; Aged; Anemia, Macrocytic; Anemia, Pernicious; Autoantibodies; Autoimmune Diseases; Erythrocyte Count; Erythrocytes, Abnormal; Erythropoiesis; Female; Fibrin Fibrinogen Degradation Products; Fibrinogen; Haptoglobins; Hemolytic-Uremic Syndrome; Humans; Intrinsic Factor; L-Lactate Dehydrogenase; Neutrophils; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy with neurological disorder which incidence is relatively rare. Since the discovery of the ADAMTS 13 in 1996 and the changes in the treatment (plasma exchanges and rituximab), the prognosis of the TTP has considerably improved. We report the case of a 60-year-old man with a refractory TTP. The subsequent discovery of an epiglottis neoplasia and its treatment saved the patient.

Topics: Adrenal Cortex Hormones; Antibodies, Monoclonal, Murine-Derived; Antimetabolites, Antineoplastic; Antineoplastic Agents; Antineoplastic Agents, Phytogenic; Antineoplastic Combined Chemotherapy Protocols; Carcinoma, Squamous Cell; Cisplatin; Docetaxel; Epiglottis; Fluorouracil; Humans; Laryngeal Neoplasms; Male; Middle Aged; Plasma Exchange; Plasmapheresis; Platelet Count; Purpura, Thrombotic Thrombocytopenic; Rituximab; Taxoids; Vitamin B 12; Vitamins

Topics: Aged; Diagnosis, Differential; Female; Humans; Peripheral Vascular Diseases; Plasma; Plasma Exchange; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12; Vitamin B 12 Deficiency

A 52 year old man was admitted for hospitalization due to dizziness and weakness that appeared in the previous 2 weeks. Anemia and thrombocytopenia, as well as elevated levels of lactic dehydrogenase, reticulocytosis and schistocytes on blood smear, all suggested thrombotic thrombocytopenic purpura. However, B12 deficiency was also diagnosed. The diagnosis of pernicious anemia was reassured by both fundic biopsy and the existence of antiparietal cells antibodies and anti-intrinsic cells antibodies. A few courses of plasmapheresis along with parenteral B12 stabilized his physical condition and he was released with no need for further treatment, and only required ambulatory follow-up.

Topics: Anemia, Pernicious; Biopsy; Diagnosis, Differential; Humans; Male; Middle Aged; Plasmapheresis; Purpura, Thrombotic Thrombocytopenic; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency