Presentation
Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables. [books.google.com]
In the case presented, the apparent defect manifested as an isolated thrombocytopenia with cytogenetic and morphologic abnormalities. [path.upmc.edu]
Entire Body System
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Refractory Anemia
Aplastic anemia (AA) needs to be differentiated from hypoplastic MDS particularly primary hypoplastic refractory anemia (PHRA) because of the impact on management and prognosis. [ncbi.nlm.nih.gov]
Silberman S, Krmpotic E (1969) Refractory anemia with leukemic transformation and chromosomal change: a case report. Acta Haematol 41: 186–192 Google Scholar 32. [link.springer.com]
MDS indicates myelodysplastic syndrome; RA, refractory anemia ; RARS, refractory anemia with ringed sideroblasts; RAEB, refractory anemia with excess of blasts; RAEB-T, RAEB in transformation; AML, acute myelogenous leukemia; BM, bone marrow; NR, not [medical-dictionary.thefreedictionary.com]
Myelodysplastic syndrome lesions, low grade Myelodysplastic syndrome: Refractory anemia, without ringed sideroblasts, without excess blasts Refractory anemia Refractory anemia (clinical) Refractory anemia w excess blasts 1 Refractory anemia w ringed [icd9data.com]
Prevention - Refractory anemia Not supplied. Diagnosis - Refractory anemia Not supplied. Prognosis - Refractory anemia Median survival of RA may fall in the 27-50 month range. [checkorphan.org]
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Pathologist
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Sideroblastic Anaemia ; Royal College of Pathologists of Australasia, 2015 Mufti GJ, Bennett JM, Goasguen J, et al ; Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS [patient.info]
[…] anemia (AA). 1 It is generally difficult to make an exact diagnosis based on the established diagnostic criteria because these disease entities overlap, and each diagnosis relies on a subjective judgement of the cell morphology by physicians and/or pathologists [hematology.org]
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Congestive Heart Failure
• Tissue iron overload from sideroblastic anemia may act similar to hereditary hemochromatosis with liver cirrhosis, diabetes, congestive heart failure, and cardiac arrhythmias. [encyclopedia.lubopitko-bg.com]
Consequently, they can live long enough so that problems related to iron overload, including congestive heart failure and cirrhosis, become life-threatening issues. [sickle.bwh.harvard.edu]
Gastrointestinal
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Failure to Thrive
Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more. [books.google.com]
Patients without chronic diarrhea having clinical feature of recurrent abdominal pain, vomiting, failure to thrive or merely short stature and refractory anemia should prompt physician to think and investigate for celiac disease. [medical-dictionary.thefreedictionary.com]
Neurologic
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Meningism
Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. [books.google.com]
Workup
WORKUP The diagnostic workup of suspected sideroblastic anemia includes laboratory evaluation and bone marrow aspiration and biopsy. [encyclopedia.lubopitko-bg.com]
Serum
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Macrocytic Anemia
Macrocytic anemia is usually caused by vitamin d eficiencies, alcohol use, medication s or thyroid. The term "macrocytic" refers to the enlarged size of the red blood cell s. [seer.cancer.gov]
anemia (rarely microcytic ) of refractory type ( refractory anemia ) Other possible findings Leukocytopenia and/or thrombocytopenia Nucleated RBCs, ringed sideroblasts, Howell-Jolly bodies, basophilic stippling Neutrophils with hypolobulated nuclei Large [amboss.com]
This effectively ruled out ITP and we considered a diagnosis of 5q-syndrome, which is characterized by del(5q), macrocytic anemia, and normal or elevated platelet count [ 4 ]. [synapse.koreamed.org]
When the 5q- is the sole change and it is associated with hypolobated megakaryocytes in the BM, with macrocytic anemia, with normal or increased platelet count then the patient should be diagnosed as having the "5q- syndrome". [atlasgeneticsoncology.org]
The deletion 5q syndrome is a unique form of myelodysplastic syndrome, occurring primarily in women in whom macrocytic anemia and thrombocytosis are typically present. Anemia in deletion 5q syndrome appears to be responsive to lenalidomide. [merckmanuals.com]
Treatment
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ATTR), ALN-PCS for the treatment of severe hypercholesterolemia, ALN-HPN for the treatment of refractory anemia, ALN-APC for the treatment of hemophilia, and ALN-TMP for the treatment of hemoglobinopathies. [medical-dictionary.thefreedictionary.com]
Back to top Treatments Your healthcare team will create a treatment plan just for you. [cancer.ca]
Prognosis
Aplastic anemia (AA) needs to be differentiated from hypoplastic MDS particularly primary hypoplastic refractory anemia (PHRA) because of the impact on management and prognosis. [ncbi.nlm.nih.gov]
Back to top Prognosis People with a myelodysplastic syndrome may have questions about their prognosis and survival. Prognosis and survival depend on many factors. [cancer.ca]
The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. [checkorphan.org]
Björkman SE (1963) Prognosis and therapy of the acquired form of sideroachrestic anemia. Proc 9th Congr Europ Soc Haematol, Part II. S Karger, New York, pp 273–276 Google Scholar 8. [link.springer.com]
As the sole abnormality in patients with myelodysplastic or myeloproliferative disorders, the 20q deletion is associated with a relatively good prognosis (2). [path.upmc.edu]
Etiology
Etiology Primary MDS ( 90% of cases ) Tends to occur in elderly patients Unknown etiology Secondary MDS ( 10% of cases ): caused by exogenous bone marrow damage Treatment-related MDS: following cytostatic therapy ( alkylating agents, topoisomerase II [amboss.com]
The patient did not undergo bone marrow aspiration so the etiology of anemia remained uncertain. [bmcresnotes.biomedcentral.com]
Secondary etiologies of thrombocytopenia must also be carefully excluded. [path.upmc.edu]
ETIOLOGY • Primary hereditary sideroblastic anemia is usually inherited as a sex-linked recessive disease. • Primary acquired sideroblastic anemia is idiopathic. • Secondary acquired sideroblastic anemia can be caused by alcohol, isoniazid, pyrazinamide [encyclopedia.lubopitko-bg.com]
[…] myeloproliferative diseases; absolute monocytosis ( 1000/mcL) in blood; significant increase in marrow monocyte precursors Chronic neutrophilic leukemia: Characterized by neutrophilia and absence of the Philadelphia chromosome and the BCR-ABL1 fusion gene Etiology [merckmanuals.com]
Epidemiology
Patient Population: Prevalence and Epidemiology Knee // Shoulder & Elbow // Hip // Spine // Foot & Ankle // Hand & Wrist Fragility Fractures: Diagnosis and Treatment Shoulder & Elbow The Characteristics of Surgeons Performing Total Shoulder Arthroplasty [mdedge.com]
Epidemiology There are few data on the epidemiology of RA, which may account for 30-40% of all MDS cases. MDS is predominantly diagnosed in the elderly population. [atlasgeneticsoncology.org]
Epidemiology Refractory anaemia with ringed sideroblasts (RARS) may account for 5-15% of all MDS cases. [ 4 ] Aetiology Congenital The most common inherited sideroblastic anaemia is X-linked sideroblastic anaemia (XLSA) caused by mutations of the erythroid-specific [patient.info]
EPIDEMIOLOGY & DEMOGRAPHICS • Hereditary sideroblastic anemia, being sex-linked, primarily affects males. • Primary acquired sideroblastic anemia is usually a disease of the elderly. [encyclopedia.lubopitko-bg.com]
[…] cases of autoimmune disease Sjogren’s syndrome. [3] [19] Because all of the reported autoimmune diseases and lymphomas involve B cells, one hypothesis proposes that ICL’s narrow T cell repertoire predisposes the immune system to B cell disorders. [3] Epidemiology [checkrare.com]
Pathophysiology
Laboratory Markers Representing Immune Pathophysiology of BM Failure The presence of predominant thrombocytopenia is the most fundamental feature of immune-mediated BM failure that should prompt further examinations of other laboratory markers. [hematology.org]
Bone marrow fibrosis: pathophysiology and clinical significance of increased bone marrow stromal fibres. Br J Haematol 2007;139:351–62. Web of Science Google Scholar 5. Farolino DL, Rustagi PK, Currie MS, Doeblin TD, Logue GL. [degruyter.com]
[…] of anemia in chronic diseases, to the pathophysiology of iron-resistant anemia in inflammatory bowel disease. [nejm.org]
Harigae H, Furuyama K ; Hereditary sideroblastic anemia: pathophysiology and gene mutations. Int J Hematol. 2010 Oct92(3):425-31. Epub 2010 Sep 17. Rigoli L, Di Bella C ; Wolfram syndrome 1 and Wolfram syndrome 2. [patient.info]
The etiology, epidemiology, pathophysiology and treatment of these conditions differ vastly. The mitochondrion is the nexus of sideroblastic anemia, however. [sickle.bwh.harvard.edu]
Prevention
Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]
Prevention - Refractory anemia Not supplied. Diagnosis - Refractory anemia Not supplied. Prognosis - Refractory anemia Median survival of RA may fall in the 27-50 month range. [checkorphan.org]
Such treatment consists of giving red blood cell transfusions to correct anemia, platelet transfusions to treat or prevent serious bleeding, and antibiotics to treat or prevent infections. [rarediseases.org]