Aplastic Anemia

A 4-year child comes to OPD with following:

Bleeding Nose from 3 days
Fever 15 days
Bruises and Petechiae
No Visceromegaly

What is the

Diagnosis
D/D
Management?

Aplastic Anemia is a rare disease, mostly occurring in children, in which blood cells are unable to mature from stem cells. This results in a decreased number of blood cells in circulation. In this disease bone marrow is damaged. The responsible factors can be many described later in this article.
Incidence:
This disease occurs worldwide but cases are very few

USA and EU: 2-6 cases per million per year
ASIA: 14 cases per million per year

Etiology:

The primary cause can be autoimmune or idiopathic.

Secondary causes can be many from drugs radiation, chemicals and viruses like CMV( cytomegalovirus ), EBV (Epstein-Barr Virus ), Hep B and C and HIV virus.

It can occur in immune diseases like Thymoma, Hypoimmunoglonemia, PNH, Bone marrow replacement, Invasion of Bone Marrow.

Peripheral Pancytopenia with Hyperplastic or Aplastic Anemia is present. Severe Aplastic Anemia is a condition in which more than 2 cell component is severely compromised. In Moderate disease the ANC ( Absolute Neutrophil Count ) is 500-1500/mm3.

Clinical Findings include:

Decrease RBC count
Pallor
Fatigue
Shortness of Breath (SOB)
Decreased Neutrophil Count
Infection
Fever
Bleeding
Petechiae
Bruises
Fewer Platelets

The important negative finding is

No enlarged visceromegaly or hepatomegaly.

Investigations

CBC with PBF and Retic( Reticulocyte) count
Bone Marrow Aspiration and Biopsy and others

Important finding on biopsy is that the cellularity is less than 10% and there is mostly fat which has replace the cells in the marrow.

Differential Diagnosis:

ITP
Malignancy (Leukemia)
Infections (Malaria,Typhoid)
Congential Pancytopenia
PNH

Treatment include Supportive and Specific.

Bone marrow donation from a sibling.1 out of 5 siblings matches for donation.
HSCT
ATG & Cyclosporin improves 70-80% in 6 months with 30% relapse. A second course with 50% improvement.
HSCF(GCSF,GMCF)
Tacrolimus
Cord Blood Transplant & Cyclophosphamide

Others therapies which are no longer used these days are Androgens, Steroids, Plasmapheresis

Complication includes: