Aplastic Anemia Flashcards
Part of the body affected when there is aplastic anemia
Bone marrow
What is aplastic anemia
Pancytopenia with hypocellular bone marrow with absence of an infiltrate with no reticulum increase
Type of aplastic anemia
Primary
Secondary
2 causes of primary aplastic anemia
Congenital
Idiopathic acquired
primary aplastic anemia pathogenesis
Hematopoietic Stem cell failure due to either genetic defect, acquired intrinsic defect or environmental causes
Different association of congenital aplastic anemia
Fanconi anemia Dyskeratosis congenital Shwachman diamond syndrome Reticular dysgenesis Pearson syndrome Diamond Blackman anemia Congenital dyserythropoietic anemia Severe congenital neurtropenia Congenital amegakaryocytic thrombocytopenia Amegakaryocytic thrombocytopenia with absent radii
Is fanconi anemia autosomal recessive or dominant
Recessive
Mean age of occurrence of fanconi anemia
7 yo
Clinical features of fanconi anemia
Cafe au lait spot Horseshoe kidney Underdeveloped gonad Absent thumbs Progressive bone marrow failure Increased risk of malignancies
How ho you diagnose fanconi anemia
Clinical features
Pancytopenia
BM trephine
Chromosomal fragility test
Manamgent of fanconi anemia
Counseling
Supportive care
transplant of hematopoietic stem cells
Median survival of fanconi anemia
24 yo
Dyskeratosis congenita is x linked recessive or dominant ?
x linked recessive
Gene Mutation leading to Dyskeratosis congenita
DKC1
Clinical features of Dyskeratosis congenita
Muco cutaneous triad ( abnormal skin pigmentation, nail dystrophy, mucosal leukoplakia) Developmental delays Pulmonary disease Short stature Early greying Deafness Bone marrow failure by 20 yo
Diagnosis of Dyskeratosis congenital
Found mutation in DKC1
Management of Dyskeratosis
Androgen s
Hematopoietic stem cell transplant
Schwachman diamond syndrome is it autosomal recessive or dominant disorder ?
Recessive
Génère mutation in Schwachman diamond syndrome
SDS gene
Clinical features of Schwachman diamond syndrome
Exocrine pancreas insufficiency through malabsorption
Bone marrow failure
Somatic abnormalities with short stature , protuberant abdomen , cleft palate
Management of Schwachman diamond syndrome
Oral pancreatic enzyme
Supportive care
HSCT
Is idiopathic aplastic anemia common or rare
Rare
Biphasic age distribution in idiopathic aplastic anemia
10-25yo
60yo
Pathophysiology of idiopathic aplastic anemia
Immune mediated destruction of HSC
Clinical features of idiopathic aplastic anemia
Symptoms due to Pancytopenia
No lymphadenopathy or hepatosplenomegaly
Ho to diagnose of idiopathic aplastic anemia
FBC Reticulocyte Blood film comment BMA trephine LFT Serology ANA Anti ds DNA USG
Management of idiopathic aplastic anemia
Supportive care
Immunosuppressive therapy
HSCT
Etiology of secondary aplastic anemia
I. Drugs - alkylating agents, antibiotics like chloramphenicol and sulphonamides, anticonvulsants like phenytoin and carbamazepine, anti thyroid agents like carbimazole and thiouracil, hypoglycemic agents like tolbutamide, gold, thiazides, mebendazole , allopurinol
Ii. Hematological malignancies
Iii. Chemical agents - benzene, pesticides, cutting oils, lubricating agents, ecstasy )
IV. Physical agents - radiation
V. Microbial - hepatitis non A B or C , EBV, parvovirus,
Vi. Metabolic - pregnancy, pancreatitis
VII. Immunologic - SLE , RA, sjogren syndrome , celiac disease
Pathogenesis of secondary aplastic anemia
Direct toxic injury to hematopoietic stem cell
Management of secondary aplastic anemia
Withdrawal of etiologic agent
Supportive care
Treat underlying condition
