Case:
27-year-old Mr. Chen has been here recently and his body has abnormalities. 13 days ago, there was no obvious cause and there was no obvious cause on the chest area, and there was no surface ulceration or redness or swelling, and there was no fear of coldness and coldness; there was fever, but no headache, dizziness, and no photoallergic. Since the onset of the disease, there has been no significant change in weight.
Physical examination for patients:
①Physical examination:
BP 110/70mmHg, mild anemia appearance, medium body shape, slightly pale eyelid conjunctiva, superficial lymph nodes throughout the body, no tenderness in the sternum, clear breathing sounds of both lungs, no dry and wet syllo sounds. P90 times/minute, smooth, no noises were heard in each valve area. The whole abdomen is soft, no tenderness, rebound pain, , and the liver and spleen are not touched under the ribs. There is no edema in both lower limbs .
②Routine blood test:
wBC 2.2x /L, neutrophil count 0.34x /L, RBC 3.23x /L, Hb87g/L, MCV 90. 2f1, MCH 31pg, MCHC 369g/L, RDW-CV 14.5%. PLT 15x /L, absolute value of reticulocytes 13.5x /L, percentage of reticulocytes 0.42%. No abnormal cells were found during blood smear microscopy.
Through the above consultation and physical examination, what is the possible diagnosis of the patient?
1. The patient is a young male, with purple skin and fever. According to the patient's main complaint, age and gender, the blood routinely indicates whole-cell reduction, which is orthocellular anemia. There is no naive cell . The proportion of reticulocytes decreased. It is necessary to consider that it is caused by leukocyte reduction. Spontaneous skin bleeding tendency caused by fever and thrombocytopenia - check the body and the liver and spleen under the ribs, there is no tenderness in the sternum, and aplastic anemia is likely to be .
2, differential diagnosis is required from the following diseases:
① paroxysmal sleep hemoglobinuria;
② myelodysplastic syndrome;
③ myelofibrosis ;
④ connective tissue disease ;
⑤ hypersplenary function.
3. What examinations should be performed in order to clarify the diagnosis?
1. In order to clarify the diagnosis, neutrophil alkaline phosphatase (NAP) staining, multi-site (including at least bone and sternal bone) bone marrow smear cell morphology and bone marrow pathology, routine karyotyping analysis of bone marrow cells, myelodysplastic syndrome set FISH, T cell subpopulations analysis, acid hemolysis test (Ham test), flow cytometry detection CD55 and CD59, ANA. + ENA, ANCA anti-platelet antibody, anti-protease 3 antibody , anti-myeloperoxidase antibody and respiratory virus detection, etc.
2, improve the above examination and can be signed with the following diseases:
①Paroxysmal sleep hemoglobinuria—such as acid hemolysis tests CD55, CD59 and respiratory virus examinations, etc., and the NAP activity is increased, so it can be ignored.
②Mysterydysplastic syndrome - such as no obvious pathological hematopoiesis is found in bone marrow hematopoietic cells, normal bone marrow cell karyotype analysis, and myelodysplastic syndrome. There is no abnormality in the FISH set, so it can be ignored.
③ Connective tissue disease—ANA + ENA and other autoantibodies are negative, and may not be considered.
④ Myelofibrosis—Bone marrow biopsy can be identified.
4. According to laboratory examination, the man was later diagnosed with aplastic anemia
Laboratory examination results:
① Peripheral blood NAP staining activity is enhanced. The results of bone marrow aspiration smear examination of the sternum and posterior superior iliac cristae showed that nucleated cells had a significant decrease in hyperplasia; the proportion of granulocytes decreased, mainly neutral lobe nucleated granules; the proportion of red blood cells decreased: the proportion of lymphocytes increased; no megakaryocytes were seen. The cellular components in bone marrow granules are mainly non-hematopoietic cells.
②Bone marrow biopsy results: Hematopoietic tissue hyperplasia is extremely low, mainly fat cells, and the three blood cells of the granuloma, erythrocyte and megakaryotic system are lacking, and a small number of lymphocytes are scattered.
③Analysis of routine karyotype of bone marrow cells is normal male karyotype: myelodysplastic syndrome FISH set, ANA+ENA and other autoantibodies, acid hemolysis test (Ham test), CD55 and CD59 tests, etc., no obvious abnormalities were found. Aplastic anemia can be diagnosed.
