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Aplastic anemia pediatrics
Aplastic anemia is a disorder affecting hematopoietic stem cells, leading to decreased production of blood cells and can be inherited or acquired. It presents with symptoms such as anemia, thrombocytopenia, and neutropenia, and diagnosis is confirmed through blood tests and bone marrow examination. Treatment options include supportive care, hematopoietic stem cell transplantation, and immunosuppressive therapy, with prognosis varying based on disease severity.
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Aplastic anemia pediatrics
- 1. Dipak Yadav MBBS 7thBatch Roll 139
- 2. Aplastic Anemia • Itcompromises a group of disorders of the hematopoietic stem cells resulting in the suppression of one or more of erythroid, myeloid and megakaryotic cell lines. • It may be inherited or acquired.
- 3. History • Paul Ehrlich(1854-1915) described the first case of aplastic anaemia in a pregnant woman who died of marrow failure in1888. • The term “aplastic anaemia” first used by Anatole Chauffard in 1904.
- 4. Epidemiology • annual incidencein Europe and US - 2 cases per million population, but 4 cases in Bangkok 6 in Thailand and 14 in Japan. • no racial predisposition exists in the United States; however, prevalence is increased in the Far East. • The male-to-female ratio is approximately 1:1 • Aplastic anemia occurs in all age groups. • a small peak in incidence in childhood.
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- 6. Etiopathogenesis Hematopoietic stem cellmay be deficient due to : 1. Acquired injury from viruses, toxins, chemicals 2. Abnormal marrow microenvironment 3. Immunological suppression( mediated by Ab or cytotoxic T cells) 4. Mutation in genes controlling hematopoiesis
- 9. Clinical features • Anemia:pallor and/or signs of congestive heart failure, such as shortness of breath. • Thrombocytopenia: bruising (eg, ecchymoses, petechiae) on the skin, gum bleeding, or nosebleeds. • Neutropenia :fever, cellulitis, pneumonia, or sepsis • jaundice and evidence of clinical hepatitis in subset of patients
- 10. • adenopathy ororganomegaly should suggest an alternative diagnosis. • In any case of aplastic anemia, look for physical stigmata of inherited marrow failure syndromes such as: • skin pigmentation • short stature • microcephaly • hypogonadism • mental retardation • skeletal anomalies
- 11. Investigations • CBC • PBS •Reticulocyte count • B12/folate. • Liver function tests • Virology • Bone marrow aspirate & biopsy
- 12. • Anemia iscommon, and red cells appear morphologically normal. The reticulocyte count usually is less than 1%. • Thrombocytopenia, with a paucity of platelets in the blood smear. • Agranulocytosis (ie. decrease in all granular white blood cells, including neutrophils, eosinophils, and basophils) and a decrease in monocytes are observed. A relative lymphocytosis occurs. • The degree of cytopenia is useful in assessing the severity of aplastic anemia.
- 13. Bone marrow exam •A bone marrow biopsy is performed in addition to the aspiration. In aplastic anemia, these specimens are hypocellular. • Only fat cells, fibrous stroma, scattered lymphocytes and plasma cells presents • Bone marrow revels little materials (“Dry Tap”) • Hence biopsy is appreciated.
- 14. BM Aspiration BMBiopsy
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- 16. BM biopsy hypocellular ,increasedfat spaces
- 17. Other investigations • Hemoglobinelectrophoresis - may show elevated fetal hemoglobin. • Biochemical profile, including evaluation of transaminases, bilirubin, lactic dehydrogenase, Coombs test, and kidney function, is useful in evaluating etiology and differential diagnosis. • Serologic testing for hepatitis EBV, CMV, and HIV • Autoimmune disease evaluation for evidence of collagen-vascular disease • The Ham test or sucrose hemolysis test frequently is performed for excluding PNH. • Histocompatibility testing should be conducted early to establish potential related donors, especially in younger patients.
- 19. Diagnosis • Pancytopenia • Bonemarrow histology and cytology • - decreased marrow cellularity (< 25%) • - increased fat cells component • - no extensive fibrosis • - no malignancy or storage disease
- 20. • No precedingtreatment with X-ray or antiproliferative drugs • No lymphadenopathy or hepatosplenomegaly • No deficiencies or metabolic diseases • No evidence of extramedullary hematopoiesis
- 21. Differential Diagnosis • FANCONIANEMIA • DYSKERATOSIS CONGENITA • Acute Myelogenous Leukemia • Anemia • Aplastic Anemia • Hairy Cell Leukemia • Paroxysmal Nocturnal Hemoglobinuria • Immune pancytopenias in connective tissue disorders (eg, systemic lupus erythematosus, refractory anemia)
- 22. Fanconi anemia • hyperpigmentationof the trunk, neck, and intertriginous areas, as well as café-au-lait spots and vitiligo, alone or in combination. • Most patients have short stature. Growth failure may be associated with abnormal growth hormone secretion, or with hypothyroidism. Absent radii and hypoplastic, supernumerary, bifid, or absent thumbs are common. Anomalies of the feet, congenital hip dislocation, and leg abnormalities are seen. • Males may have an underdeveloped penis; undescended, atrophic, or absent testes; and hypospadias or phimosis
- 23. • . Femalescan have malformations of the vagina, uterus, and ovary. • Many patients have a Fanconi “facies,” including microcephaly, small eyes, epicanthal folds, and abnormal shape, size, or positioning of the ears • Approximately 10% of patients are mentally retarded. • Ectopic, pelvic, or horseshoe kidneys are detected by imaging, as well as duplicated, hypoplastic, dysplastic, or absent organs.
- 24. café-au-lait spots (coffee inmilk) Thumb attached by a thread Short stature Epicanthal fold Broad nasal bridge Microcephaly
- 26. DYSKERATOSIS CONGENITA an inheriteddisorder of the mucocutaneous and hematopoietic systems in association with somatic abnormalities. • The diagnostic ectodermal triad is reticulate skin pigmentation of the upper body, mucosal leukoplakia, and nail dystrophy • Skin and nail findings usually become apparent in the 1st 10 yr of life, whereas oral leukoplakia is seen later.
- 27. • These manifestationstend to progress as patients get older. • DC is a constitutional pancytopenia; aplastic anemia occurs in approximately 50% of cases, usually in the 2nd decade of life Patients also have a predisposition to cancer. Approximately 85% of patients are male, compatible with X-linked recessive inheritance. Approximately 15% of patients appear to have either autosomal dominant or autosomal recessive modes of inheritance
- 28. Treatment- AA • Supportivecare Severe Anemia- packed red cells Sever Thrombocytopenia- Platelets transfusion Infection- Antibiotics Definitive therapy Hematopoietic stem cell transplant (HSCT)
- 29. Criteria for HSCT 1.Young age 2. Severe aplastic anemia 3. Availability of matched siblings SAA who cannot go for HSCT • Infusion of antithymocyte globulin(ATG) • Or, antilymphocyte Globulin(ALG) with Oral cyclosporine
- 30. • Pt. withneutropenia with infections • A trial of granulocyte colony stimulating factor (G-CSF) • It should not be continued for >7 days even if neutrophil count does not increase • As prolonged use increase the risk of malignant transformation
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- 33. Prognosis • SAA isat risk of cardiac failure,infections,severe bleeding • The major prognostic determinant is the blood count; severe disease is defined by the presence of two of three parameters: absolute neutrophil count <500/µL, platelet count <20,000/µL, and corrected reticulocyte count <1% (or absolute reticulocyte count <60,000/µL). • with current transplantation regime the survival rate is 60-70%
- 34. • Survival ofpatients who fulfill these criteria is ∼20% at 1 year after diagnosis with only supportive care • patients with very severe disease, defined by an absolute neutrophil count <200/µL, fare even more poorly • Treatment has markedly improved survival in this disease.
- 35. References • Nelson TextbookOf Pediatrics 19th edition • Ghai Essential Pediatrics 8th edition • Harrison's Principles of Internal Medicine, 18edition • Robbins Basic Pathology, 9th Edition