Pediatric Blood Disorders Flashcards
ITP in children
Most common causes of thrombocytopenia in children (1/20,000)
- usually around ages 1-4 and precedes a viral infection
Usually acute but can be chronic
*most common viruses associated with it are Epstein-Barr Virus (EBV) and HIV
ITP pathogenesis in children
Target from antibodies against platelets remains undetermined.
Antibodies bound to platelets are recognized by the Fc receptor on splenic macrophages where they are destroyed
ITP clinical manifestations
Sudden onset of generalized petechiae and purpura
“Yesterday she was fine and now she is covered in purple dots/bruises”
- can show bleeding from gums, mucous membranes and profound thrombocytopenia
(< 10 x 10^9/L) - almost always says was sick 1-4 weeks ago with viral infection
- physical examination is normal outside of petechiae/ purpura
- rarely will show splenomegaly, lymphadenopathy, be one pain and pallor
( suggests possible leukemia as well)
Classification of ITP
1: no symptoms
2: mild symptoms: bruising/petechiae and minor epistaxia
3: moderate symptoms: severe skin/mucosal lesions, menorrhagia
4: severe symptoms: extreme bleeding episodes
Treatment of ITP
No cure
Mild treatment:
Just monitor and education, no drugs
Moderate-severe:
Treated with (0.8-1g/kg/day IVIG or prednisone 1st line of treatment
- monitor for 48 hrs
- once >20 x 10^9/L stop treatment
Hereditary spherocytosis in children
1/ 2000-5000 (most common in Northern European origin)
Defect in RBC skeletal proteins (usually an Anakryin or spectrin)
- RBCs are spherical shaped and burst easily/ cant fit through splenic cords/sinuses and are destroyed early by spleen macrophages
Clinical signs of hereditary spherocytosis
Anemia and jaundice
Splenomegaly
Recurrently hemolytic crises and gallstones in severe cases
- very dangerous if patient was recently affected with parvovirus B19 infection*
- results often in hematocrit <10% which is super deadly and can result in CV collapse
Possible other dangerous infections are HIV and hep B or C
Diagnosis of hereditary spherocytosis
Clinical symptoms hint at i t but the easiest way to diagnosis is a blood smear
- will show 750% increase of spherocytes and a low normal- low decrease of overall MCV.
- also show increased MCHC (>35g/dL)
- the gold standard with hereditary spherocytosis is the osmotic fragility test (will show cells bursting with slight hypotonic solutions)
Treatment of hereditary spherocytosis
Only “cure” or correction is splenectomy
Is also 75% a autosomal dominant trait with 25% arising de novo
- should monitor for hyperbilirubinemia in children that have parents with known hyper spherocytosis (would likely require transfusions and phototherapy)
G6PD in children
One of the PPP enzymes are defective, resulting in the inability to reduce Glutathione. This results in a increase chance of damage to RBCs via oxidative stress
- x-linked disease (more common in males)
G6PD clinical symptoms
Severe neonatal jaundice in the eyes out of nowhere cardinal sign
episodic acute hemolytic anemia (usually caused by drugs and rarely favs beans)
dark urine and/or hemoglobinuria
Back/abdominal pain
Hemolytic anemia
- often times will appear asymptomatic until triggered via some episode of oxidative stress*
- will show symptoms within 24-48 hrs after this event
G6PD diagnosis
Blood smear will show Bite cells and Heinz bodies golden standard
Drugs that cause oxidative stress to G6PD patients
Asprin (causes Reyes syndrome in children so shouldn’t be given anyways)
Sulfonamides (Sulfadrugs)
Rasburicase
Antimalarials (primaquine)
Fava beans (due to concentrations of divicine , isouramil, convicine)
G6PD treatment
Supportive therapy and blood transfusions
- No cure*
- note that males of Central African or Mediterranean descent should always be tested for this when born*
Diamond Blackfan Anemia (congenital hypoplastic anemia)
Rare, congenital bone marrow failure
Autosomal dominant disease that is usually diagnosed with 1st year of life
Can make them more susceptible to cancer in the future
Diamond-blackfan anemia clinical signs and diagnosis
50% have the following physical abnormalities
- short stature (<10% percentile)
- cleft palate and microcephaly (Most common 50%)
- cardiac/urogential abnormalities
- thenar eminance flattening
- super long thumb(looks like a normal finger)
super pale and blue eyes
* no or very poor radial pulse is a key sign*
Lab results Presents with macrocytic and normochromic RBCs, very reticulocytopenia and a very low MCV
DIamond- blackfan anemia treatment
Corticosteroids are the 1st line treatment
- however watch dose since corticosteroids are known to impair growth and neurocognative development. May chose to wait until 1 yr to start therapy because of this
- Hematopoietic Stem Cell transplantation is curative in some cases*
- best route is from sibling donors under age 9yrs
Fanconi anemia (FA)
Rare multisystem hereditary disorder that results in bone marrow failure
High chance of getting cancer and patients are highly sensitivity to alkylation get agents and radiation
Highrate of carrier (1/200) but very rare expression (1/200000)
Fanconi anemia symptoms
- produces a diagnostic triad*
- bone marrow failure
- congenital skeletal abnormalities
- elevated chromosome fragility (no teleomere)
Hearing loss Absent thumbs Microcephaly and microphthalmia Endocrine issues Hyperpigmentation
Treatment for Fanconi anemia
Bone marrow transplantation is curative
Di-George syndrome
22q11.2 micro deletion syndrome
- classic triad is conotruncal cardinal abnormalities, hypoplastic thymus and hypocalcemia*
- also almost always produces hypoparathyroidism and hypoplastic thymus as well
Di-George syndrome symptoms
Mild Skull deformities (cleft palate, prominent nose, narrow bases and ridges, retuned mandible, weak chin)
- 40-50% present with microcephaly
Hypocalcemia tetany/seizures is the most cardinal clinical sign
Signs of congenital heart disease
- ventricular septal defects and right aortic arch are the most common heart symptoms
Short stature
Hearing loss
Decreases motor tone and instability
Learning issues
Kawasaki disease (mucocutaneous lymph node syndrome)
- most common cause of acquired heart disease in children*
Idiopathic origin but hypothesized to be caused by bacterial/viral pathogens that turn on the defect
Ultimately will lead to vasculitis of coronary arteries and can cause MIs or aneurisms in coronary arteries
- ALWAYS PRESENTS WITH A RASH
90% of patients are less than 5 years old
- more common in males (1.5:1 ratio)
Possible causative agents for Kawasaki disease
Viral: measles, adenovirus, EBV
Bacteria: S. Aureus, step pyogenes, rickettsia, Lepto interrogans
Drug reactions: serum sickness and Stevens-Johnson syndrome
Rheumatologist disease: arthritis
Heavy metal toxicity
Kawasaki disease diagnosis
Fever for at least 5 days and 4/5 of the following
- polymorphous exanthem (red rash that can be variable in origin and amount)
- (conjunctival injection) pink eye without exudate
- strawberry tongue & lips cracking
- erythema, edema and induration of hands and feet
- cervical lymphadenopathy (swollen lymph nodes)
- if they have this it is Kawasaki disease until disproven*
- also make sure to rule out strep throat*
Kawasaki disease laboratory findings
Normocytic/normochromic anemia
High inflammatory markers (CRP and ESR)
Low albumin levels
High serum transaminases
High bilirubin in blood
Band neutrophils in blood smears
- if echocardiogram shows coronary artery dysfunction, only need 3/5 of the cardinal symptoms*
Kawasaki disease treatment
- IVIG is the first line treatment*
- 2g/kg for 1-2 doses
Follow IVIG with asprin for 1-2 months
- 80-100 mg/kg.day until fever is gone for 48 hrs, then stop treatment.
Best prognosis is treatment within 1st 10 days of the fever
Henoch- Schonlein purpura (HSP)
Idiopathic syndrome where there is large amounts of IgA1 complexes with C3 deposition caused by an environmental trigger
- triggers wide spread inflammatory reactions
Most common in >10 years , with peak at 6 yrs
- 1.5:1 male to female ratio
Possible triggers:
- Infections: URI, strep and staph most common
- medications
- insect bites
- cold weather
- trauma
Henoch- Schonlein purpura (HSP) symptoms
Rash is usually the first clinical manifestation
- purpura spots
- glomerulonephritis
- low grade fever
- angioedmia in extremities
- GI symptoms
classic triad that follows the rash is purpura, arthralgia and abdominal pain
Possible genetics for HSP
HLA-DRB1 is the assumed target gene
Also hypothesized to be affected by HLA-A2, All and B35
- HLA-A B49 and B50 are suspected to DECREASE likelihood of getting it*
Laboratory findings of HSP
CBC: low platlet count
Urinalysis: High albumin and creatinine Levels. Also kidney enzymes
Intussusception with HSP
Possible bowel invaginiation into another part of the bowel “telescope”
- this leads to obstruction
Possible symptoms
- obstructs lumen
- abdominal pain and vomiting
- ischemia of intestine
- most common site is ileocecal
Treatment of HSP
Supportive care, avoid exercise
- 1st line of treatment is NSAIDs (usually acetaminophen and Naproxen)
- extreme situations require ACE inhibitors or angiotensin blockers
Has a high chance of recurrent disease so need to follow up often especially within 4 months of diagnosis
