Publication of the Barcelona study 6 prompts the consideration of three questions as to how epidemiologic investigation has contributed to our understanding of aplastic anemia: 6) how frequent is the disease? Aplastic anemia in adults is reviewed separately. 8s and 5. (See and and. A copy of the complete report can be downloaded free from the NORD website for registered users. Ophthalmic manifestations developing in a pregnant patient with aplastic anemia can be successfully managed with supportive care including red blood cell and platelet transfusions. For other factors, population-based approaches have been less definitive, either because the clinical association is too infrequent (as with eosinophilic fasciitis) or perhaps in reality only coincidental (suggested for pregnancy). And 8) what are implications of population surveys for the care of patients and overall clinical outcomes?
Of particular interest is an infectious etiology, serving as a trigger for autoimmunity. Bone marrow biopsy confirmed the etiology of the pancytopenia as aplastic anemia and subsequent red blood cell and platelet transfusions stabilized the patient's hematologic status. Comparable cumulative long-term survival of about 65% also was found in patients at the National Institutes of Health with severe disease who were treated with immunosuppression in the 6995s 76 and in other recent published single institutional and multicenter or cooperative group experiences. 75Future investigations of large populations must proceed beyond interviewer-administered questionnaires to molecular epidemiology. This is an abstract of a report from the National Organization for Rare Disorders (NORD). O. 68In the Barcelona series, 6 aplastic anemia remains a serious hematologic disease: mortality at two years after diagnosis (both severe and moderate pancytopenia) was over 95%, and higher in patients 95 years and older. It is provided for informational purposes only. 9 respectively. )The major constitutional or inherited causes of pancytopenia and AA in children include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and congenital amegakaryocytic thrombocytopenia. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this reportThis disease entry is based upon medical information available through the date at the end of the topic. We report an unusual case of bilateral disc edema and visual loss due to pre-retinal hemorrhage in a patient with aplastic anemia, diagnosed during pregnancy. For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P. Acquired aplastic anemia case study. Aplastic anemia, a serious hematological disorder characterized by pancytopenia and hypoplastic bone marrow is often exacerbated during pregnancy [ – ]. Complete blood count (CBC) analysis revealed white blood cell count (WBC) of 6. Acquired AA in children and young adults will be reviewed here [ ].
Aplastic anemia (AA) is a rare disorder characterized by pancytopenia and a hypocellular bone marrow [ ]. In a hospital-based study of Canadian pediatric aplastic anemia, a much higher incidence of disease was found in children of Asian descent and correlated to HLA differences, both results by implication favoring genetic rather than environmental risk. For a full-text version of this topic, go to www. In the largest studies, as in the current report from Barcelona 6 and in Thailand, 68 two patient age peaks of incidence are present, one among young adults and a second in the elderly. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. A 75 year old primagravid female developed acute vision loss in her right eye, during hospitalization for treatment of aplastic anemia diagnosed during her pregnancy. Some novel risk factors in the Thai study, including water source, animal exposure, use of animal fertilizers, and nonmedical needle exposures could account for a large proportion of cases, and they point to an infectious etiology. In one study of 768 children 67 years of age with acquired severe AA (SAA) or very severe AA (vSAA) who underwent treatment with hematopoietic cell transplantation or immunosuppression, the following etiologies were noted [ ] (see below): The major identifiable etiologies are exposure to a wide variety of drugs and chemicals, ionizing radiation, and some viruses ( ). Org
Many diseases, conditions, and factors can cause aplastic anemia, including: Inherited aplastic anemia is rare. (See and. 9 × 65 9 cells/litre, hemoglobin of 9. AA may also rarely complicate orthotopic liver transplantation AA in this setting has a very poor outcome except in those patients who develop the disorder in the context of fulminant hepatic failure [ ]. Acquired aplastic anemia is more common, and sometimes it's only temporary. Post-hepatitis aplastic anemia is a highly stereotypical syndrome, with pancytopenia following on seronegative liver inflammation, and accounting for about 5–65% of cases in series of patients.
Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. The cause of the damage can be acquired or inherited. Two recent examples of such approaches will be cited as examples and for encouragement. Neuro-imaging studies did not reveal any signs of intracranial mass lesion or edema. The information provided in this report is not intended for diagnostic purposes. It is possible that the title of this topic is not the name you selected. (See below. In either condition, the associated neutropenia and thrombocytopenia can lead to potentially life-threatening infections and bleeding, respectively. 7) what is the etiology of marrow failure in the community? A 75 year-old primagravid Caucasian female at 75 weeks of gestation presented to the emergency department with complaints of weakness, dizziness, headaches and palpitations. In almost all modern studies of aplastic anemia, the sex ratio has been close to 6: 6, which is unusual for immune-mediated diseases. Rarediseases. Further investigation showed normal liver function tests and prothrombin time and an INR of 68. Org and click on Rare Disease Database under Rare Disease Information. Damage to the bone marrow's stem cells causes aplastic anemia. In many people who have aplastic anemia, the cause is unknown. A case of aplastic anemia diagnosed during pregnancy, which developed bilateral disc edema and acute pre-retinal hemorrhage leading to vision loss.
Acquired means you aren't born with the condition, but you develop it. 9 gm/dl, and platelet count of 5 × 65 9 cells/litre. Diagnosis and treatment of these disorders are discussed separately. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. Transplant conferred a better outcome, and those who received androgens did worse. Aplastic anemia can similarly (and very rarely) follow on infectious mononucleosis, yet neither of these preceding episodes was significantly associated with aplastic anemia in either the large European or Thai reports. Hormonal imbalance between hematopoietic placental lactogen and erythropoietin and marrow suppressive estrogen result in this association [ ]. ) AA also has occurred in patients with other immune disorders such as systemic lupus erythematosus and, occasionally, in pregnancy [ ]. Acquired AA, characterized by pancytopenia and hypocellular bone marrow in the absence of abnormal infiltrates and without increased reticulin, accounts for most cases of AA in children and young adults ( ). Please check with the agencies listed in the Resources section for the most current information about this disorder. When stem cells are damaged, they don't grow into healthy blood cells. Inherited means your parents passed the gene for the condition on to you. In contrast, bone marrow failure is a more encompassing term that describes pancytopenia from a variety of different mechanisms, including bone marrow replacement by tumor or fibrosis, disordered cellular maturation (eg, vitamin B67 deficiency), and myelodysplasia, in which the stem cells are malignant and may be present in increased numbers but do not mature ( ) [ ]. There was resolution of the disc edema with improvement in the pre-macular hemorrhage resulting in 75/55 vision in the right eye, following supportive transfusions. Some research suggests that stem cell damage may occur because the body's immune system attacks its own cells by mistake. )No clear cause can be determined in more than 75 percent of children with acquired aplastic anemia (AA). Her best-corrected visual acuity (BCVA) was hand motions and fundus evaluation revealed a large pre-macular hemorrhage in the right eye (OD) and bilateral disc edema.