Aplastic anemia
| Classification according to ICD-10 | |
|---|---|
| D60 | Acquired isolated aplastic anemia [pure red cell aplasia] |
| D61 | Other aplastic anemia |
| ICD-10 online (WHO version 2019) | |
The aplastic anemia (synonyms: aplastic syndrome , panmyelopathy , panmyelophthisis , Aleukia haemorrhagica ) is a group of rare disease, which is due to different triggers to a loss of the hematopoietic stem cells in the bone marrow is, resulting in anemia with reduction of the number of all cells of the Blood ( pancytopenia , anemia + leukopenia + thrombocytopenia ). The congenital forms include Fanconi anemia and Diamond-Blackfan syndrome . Acquired aplastic anemia can be triggered by toxins or ionizing radiation , but in most cases there is an autoimmune reaction against the bone marrow. Therapy depends on the cause and usually involves immunosuppressive medication.
causes
Congenital aplastic anemia (rare)
In addition to Fanconi anemia and Diamond-Blackfan syndrome , a deficit of telomerase, GATA2 and CTLA4 can also be considered.
| Congenital syndromes with bone marrow insufficiency | Haematological findings | clinic | genetics | Pathophysiology |
|---|---|---|---|---|
| Telomerase deficit | Severe aplastic anemia in childhood, moderate aplastic anemia and thrombocytopenia in adulthood | Early gray hair, pulmonary fibrosis , cirrhosis of the liver | DKC1 , TERT , TERC , RTEL1 and other rare mutations | Insufficient repair of the telomere |
| Fanconi anemia | Severe childhood aplastic anemia. Rarely presented as bone marrow insufficiency. In adulthood, myelodysplastic syndrome , acute myeloid leukemia . | Small size, café-au-lait spots (like coffee with milk), skeletal and urogenital abnormalities | 17 FANC genes | Insufficient repair of DNA cross links (mutation with cross-linking of DNA strands) |
| GATA2 deficit | Severe aplastic anemia, myelodysplastic syndrome, acute myeloid leukemia | Persistent and unusual infections | GATA2 | Pathophysiology unknown |
| CTLA4 deficit | Low IgG aplastic anemia | Gastrointestinal diseases, enlarged lymph nodes, infections, autoimmune disease | CTLA4 | Insufficient inhibition of the immune response |
Acquired aplastic anemia (most cases)
Most cases of acquired aplastic anemia can be attributed to an autoimmune reaction against stem cells in the bone marrow. Their trigger is mostly unknown. There is an association with other autoimmune diseases such as eosinophilic fasciitis , as well as hepatitis and thymomas . There is also an overlap with other diseases of the blood and bone marrow, namely myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria . An autoimmune genesis can be assumed particularly in severe and acute aplastic anemia.
Direct damage to the bone marrow is less common:
- Medication:
- Chloramphenicol , phenylbutazone , gold preparations, felbamate , colchicine , penicillamine , allopurinol , phenytoin , sulfonamides , anti-thyroid drugs and the like. a.
- Toxins: e.g. B. benzene , pentachlorophenol (PCP) or lindane and arsenic compounds such as arsphenamine
- Ionizing radiation
Viral infections (especially parvovirus B19 and Epstein-Barr virus ) can also cause temporary aplastic anemia.
Symptoms / clinical findings
General symptoms
Headache, nausea, poor performance, weight loss, tiredness, a higher tendency to collapse, pale skin due to pancytopenia and the resulting insufficient oxygen supply to the body. In addition, there are tissue hemorrhages due to thrombocytopenia and infections due to neutropenia .
Laboratory medical findings
- decreased reticulocytes
- increased serum ferritin level
- Erythropoietin in serum and urine, sometimes greatly increased
- Hardly or no longer existing erythrocyte-forming cells in the bone marrow
- fat-rich, cell-poor bone marrow, in which only lymphocytes and blood plasma are present in the case of severe disease .
Diagnosis
- Bone marrow examination, determination of leukocyte and platelet counts
- exact medication history
- clinical examination (signs of anemia? infection? tendency to bleed?)
- Complete blood count with differential blood count and reticulocyte count
therapy
- Symptomatic: blood transfusions ( packed red blood cells , concentrated platelets ), antibiotics to treat infections
- Immunosuppressive therapy ( anti-T lymphocyte globulin therapy (ATG), ciclosporin , cortisone )
- Stem cell transplant
Light cells foundation
The Light Cells Foundation is dedicated to research into aplastic anemia and the frequently occurring paroxysmal nocturnal hemoglobinuria .
See also
literature
- M. Classen, V. Diehl, K. Kochsiek: Internal medicine. Urban & Schwarzenberg, Munich 1998, ISBN 3-541-11674-9 .
Web links
- Aplastic Anemia & PNH eV Self-Help AA and PNH
- Foundation of light cells
- Aplastic Anemia & MDS International Foundation
Individual evidence
- ↑ H. Theml et al: Pocket Atlas of Hematology: Morphological and clinical diagnostics for practice. Georg Thieme Verlag, 2002, ISBN 3-13-631605-3 , p. 148, books.google.de
- ↑ Neal S Young: Aplastic Anemia . In: The New England Journal of Medicine . tape 379 , no. 17 , 2018, p. 1643-1656 , doi : 10.1056 / NEJMra1413485 .
- ↑ Neal S. Young: Aplastic Anemia . In: New England Journal of Medicine . tape 379 , no. 17 , October 25, 2018, ISSN 0028-4793 , p. 1643–1656 , doi : 10.1056 / NEJMra1413485 , PMID 30354958 , PMC 6467577 (free full text) - ( nejm.org [accessed March 31, 2020]).
- ^ Robert A. Brodsky, Richard J Jones: Aplastic anemia . In: The Lancet . tape 365 , no. 9471 , May 2005, p. 1647–1656 , doi : 10.1016 / S0140-6736 (05) 66515-4 ( elsevier.com [accessed March 31, 2020]).
- ↑ F. Bercu, V. Cotateva, F. Ionescu: Panmielopatie salvarsanica. In: Medicina Interna Bucuresti. Volume 8, 1956, pp. 759-763.
