ABSTRACT
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of Type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and nonspecific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease.
Subject(s)
Gaucher Disease/diagnosis , Gaucher Disease/therapy , Algorithms , Disease Management , HumansABSTRACT
Vitamin B12 deficiency is usually evoked in presence of compatible hematologic or clinical (usually neurologic) signs. However, many cases of deficiency are little or not symptomatic. Pernicious anemia, caused by a deficiency in intrinsic factor, is a rare cause of vitamin B12 deficiency. The most frequent causes are gastric disorders, pancreatic insufficiency, or chronic drug treatment (proton pump inhibitors or metformin) that interfere with the digestion of vitamin B12 digestion, or disorders of the ileum mucosa reducing the absorption of vitamin B12. Oral treatment of vitamin B12 deficiency is possible whatever the etiology, but it has only been validated in small series. Parenteral treatment remains indicated for severe neurologic deficits or whenever patient adherence with treatment is doubtful.
Subject(s)
Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/therapy , Humans , Vitamin B 12/metabolism , Vitamin B 12/therapeutic use , Vitamin B 12 Deficiency/etiology , Vitamins/therapeutic useABSTRACT
Cytogenetic and molecular analyses are essential disease-monitoring parameters in chronic myelogenous leukemia (CML) treated with imatinib. However, a bone marrow morphologic response has not been defined. We reviewed bone marrow histology and cytology of 39 imatinib-treated patients with CML over 49 weeks and introduced a morphologic response score. A significant positive correlation with a complete cytogenetic response was shown for absence of dry tap (P = .04) and abnormal megakaryocytes (P < 0.001), normalization of cellularity (P = .001) and reduction of fibrosis (P = .01), myelopoiesis:erythropoiesis index (P = .001), blast (P = .001) and basophil count (P < 0.001). The morphologic score integrating these parameters showed an early and late correlation with cytogenetic response. In conclusion, morphologic criteria for complete cytogenetic response in patients with CML treated with imatinib can be defined. Persistent high-level morphologic abnormalities herald early on a high likelihood to fail treatment and call for more intense or alternative therapy.
