2. • Patient A, a 24-year old female, was admitted to hospital with
complaints of recurrent epistaxis, progressive weakness and
shortness of breath with minimal physical effort. she has experienced
recurrent fever reaching 38.2°C.
• Upon physical examination she showed a pale skin, good nutritional
status and no acute distress.
• There's no lymphadenopathy or hepatosplenomegaly.
• Many petechial hemorrhages cover her chest and legs.
• Several bruises are found on her legs and thighs.
• The patient denies sinus congestion, throat pain, cough, nausea,
emesis, melena, or hematuria.
3. • For the past 3 months, patient A's family physician has been following
her recovery from viral hepatitis. her recovery was uneventful.
• Her liver enzyme levels returning to normal within two months.
• She has no past medical history, and there's no family history of
hematological disorders.
• Laboratory tests were ordered on admission.
8. • Patient A was referred to a hematologist who ordered a bone marrow
examination.
• The aspirate obtained was inadequate for evaluation.
• Only a single site could be aspirated.
• Preps made from the aspirate showed a markedly hypo-cellular
marrow with very few hematopoietic cells.
• Cells present consisted of lymphocyte, plasma cells, and stromal cells.
• There's no malignant cells present.
12. Diagnosis
Involves low counts in 2 of 3 cell lines:
red blood cells (RBC), white blood cells (WBC), platelets.
• Bone marrow cellularity is too low.
• No evidence of damage or mutation to the stem cell pool
(NORMAL cytogenetic).
• No dysplasia.
** (If dysplasia or abnormal cytogenetic seen, think myelodysplastic
syndrome (MDS)).
14. Aplastic Anemia
• Aplastic Anemia is a rare disease caused by a
decrease in or damage to marrow stem cells,
damage to the microenvironment within the
marrow, and replacement within the marrow
with fat.
• The precise etiology is unknown, but it's
hypothesized that the body's T-cell mediate
inappropriate attack against the bone marrow,
result in bone marrow aplasia .
15. Classification
• Severe Aplastic Anemia
• Patient must meet the following criteria:
(a) Bone marrow cellularity < 25%
Or
30-50% with < 30% residual
hematopoietic cells
(b) Two of three of the following:
(1) Neutrophils < 0.5 x 109/L
(2) Platelets < 20 x 109/L
(3) Reticulocytes < 1%
• Very Severe Aplastic Anemia
• Patient must meet the criteria
for severe aplastic anemia and
have:
Neutrophils < 0.2 x 109/L
16. Causes
• In about 50% of cases, aplastic anemia is considered to be idiopathic,
meaning that the cause of the disease is unknown.
• Acquired aplastic anemia (environmental factors and physical
conditions):
- radiation or chemotherapy.
- medications: chloramphenicol, sulfonamides.
• Genetic (Inherited) disorders: Fanconi anemia.
• Autoimmune diseases.
• Viruses: EBV, HIV, and Hepatitis virus.
17.
18. Fanconi anemia
Fanconi anemia (FA) is a rare genetic disease resulting in impaired
response to DNA damage.
FA is the result of a genetic defect in a cluster of proteins responsible
for DNA repair.
Among those affected, the majority develop cancer, most often acute
myelogenous leukemia, and 90% develop bone marrow failure by age
40.
About 60–75% of people have congenital defects, commonly short
stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears,
and developmental disabilities. Around 75% of people have some
form of endocrine problems, with varying degrees of severity.
19. • FA is primarily an autosomal recessive genetic disorder.
• This means that two mutated alleles (one from each parent) are
required to cause the disease.
• Scientists have identified 17 FA or FA-like genes: FANCA, FANCB,
FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI,
FANCJ (BRIP1), FANCL, FANCM, FANCN (PALB2), FANCP (SLX4), FANCS
(BRCA1), RAD51C and XPF.
Notes de l'éditeur
Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells. By “Wright-Giemsa stained smears”.
MDS: 15% hypocellular, others is hyper.
Tetracycline , and aminoglycoside> induce Fanconi syndrome.