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Hematology RC Editable > Pediatric/rare disorders > Flashcards

Pediatric/rare disorders Flashcards

1
Q

Patient with umbilical cord granuloma, problems with cord separation and infection, wbc persistently >60. What is the diagnosis?

A

Leukocyte Adhesion Deficiency

What’s the neutrophil defect?
Severely impaired neutrophil chemotaxis (neutrophils can’t migrate to the tissues)

Beta-2 integrin subunit deficiency (absent CD18 on neutrophils by flow)

Tx: Abx proph, vaccination, HSCT if severe type 1

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2
Q

4 hematologic features of CVID

A

Evan’s Syndrome -AIHA + ITP
Pernicious Anemia
Lymphoid Malignancy: NHL or HL or waldenstrom
Aplastic Anemia
Consumptive cytopenias secondary to increased infection

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3
Q

What is Gaucher’s disease? How is it diagnosed and treated?

A

Gaucher disease is a rare, AR, lysosomal storage disorder caused by mutations in the glucocerebrosidase gene, resulting in the accumulation of glucosylceramide and other glycolipids within lysosomes of macrophages–>leads to inflammatory and hyperplastic cellular response, over expression of lysosomal proteases, and macrophage activation.

Dx: perform glucocerebrosidase enzyme activity assay on leukocytes, urine or fibroblasts or GBA1 gene sequencing

Treatment: enzyme replacement,
substrate reduction therapy with eliglustat→ reduces synthesis of glucocerebroside; SCT

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4
Q

What are clinical features of Gaucher’s disease?

A 
Splenomegaly
Hepatomegaly 
Thrombocytopenia and anemia
Bleeding
Bony pain/#s/AVN/Erlenmeyer flask on XR (widening of the lower third of the femur)
Developmental delays
Neuropathies
Increased risk of MGUS and MM
Increased risk of PD
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5
Q

What does a mutation in GFI1 cause?

A

GFI-1 = Growth Factor Independence-1
Mutation causes neutrophil-specific granule deficiency
ie. Severe congenital neutropenia (or gray platelet)

More commonly associated genes:
ELANE
HAX1

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6
Q

What is mutated in familial HLH?

A

PRF1 = Perforin - most common

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7
Q

What is the inheritance pattern of AIP?

What gene is mutated in AIP?

A

Autosomal Dominant [Only AR Acute porphyria is delta-ALA dehydratase deficiency!]

Due to deficient activity of Porphobilinogen deaminase (PBG Deaminase)

No skin involvement!

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8
Q

Name 3 treatments for acute attacks in AIP

Name 2 substances found in the urine after an attack of AIP

A 
3 Treatments:
Carbohydrates
Hemin
Opiates
Hydration
BB/CCB to manage autonomic dysfxn
Electrolyte management (often hyponatremia)
Seizure monitoring +/- anticonvulsants
Avoid precipitating drugs/offending agents

2 substance in urine: Elevated PBG and Urinary ALA
[Reminder: Urine PBG not elevated in ALAD]

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9
Q

3 treatments for PCT. What enzyme is missing?

A

UROD (uroporphyrinogen decarboxylase)–> isocoproporphyrin in feces.

Phlebotomy (reduces hepatic iron)
HCV therapy
Hydroxochloroquine (125 mg twice weekly–> mobilizes hepatic iron to be excreted into urine)
Iron chelation (if can’t tolerate phlebotomy)
Sunlight avoidance/zinc oxide sunscreen
Avoid etoh

*HCV, HH, HIV increase liver iron which inhibits UROD making symptoms worse.

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10
Q

What is the mutation in systemic mastocytosis?

A

cKIT D816V

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11
Q

Name 3 drugs used in managing basic/emergency effects of systemic mastocytosis?

A 
·   	Epinephrine
·   	Antihistamines (h1- Ceterizine and h2 blockers-famotidine, ranitidine)
·   	Leukotriene antagonists
·   	Steroids
·       PPIs
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12
Q

Name 3 drugs that decrease proliferation in systemic mastocytosis.

A

· Midostaurin-if D816V mutation neg or pos
· Imatinib in D816V negative only!!
· Cladribine
· Interferon alpha
· Hydroxyurea
· avapritinib (TKI against PDGFR alpha)

HSCT

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13
Q

What are the 5 sub-types of systemic mastocytosis?

A
  1. Indolent systemic mastocytosis
  2. Smoldering mastocytsosis
  3. Systemic mastocytsosis with associated hematologic malignancy
  4. Aggressive mastocytosis
  5. Mast cell leukemia
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14
Q

Gata-2 deficiency. 4 associated conditions and their features.

A
  1. Emberger’s syndrome: lymphedema, warts (HPV), deafness, progression to AML
  2. MonoMAC syndrome: monocytopenia and mycobacterial infections (No TB)
  3. DCML syndrome: Dendritic cell, monocyte, B and NK cell lymphoid deficiency
  4. Familial MDS/AML- Usually high risk, monosomy 7, trisomy 8.
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15
Q

What is the role of the GATA-2 gene?

A

Gene encodes a zinc finger transcription factor that regulates hematopoiesis.
Defects result in AD, high risk Inv 3 or t3 AML

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16
Q

Systemic aggressive mastocytosis- 8 features

A
  1. Bony disease: bone pain, #, osteoporosis
  2. Constitutional symptoms
  3. Mediator release related symptoms: abdominal pain, GI distress, flushing, hypotension, anaphylaxis.
  4. Hepatomegaly
  5. Splenomegaly
  6. Lymphadenopathy
  7. Cytopenias
  8. GI infiltration and malabsorption- Weight loss
  9. Hepatic dysfunction- impaired LFTs, ascites or portal HTN
  10. Skin changes urticaria pigmentosa and Darier sign (more indolent)

Think constitutional, skin, mediator release, MSK and organ infiltration

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17
Q

Diagnostic criteria for systemic mastocytosis:

A

Diagnostic criteria (1 major + 1 minor, OR 3 minor)

Major:
1. Multifocal dense mast cell infiltrates in aggregates of at least >15 cells) in either marrow, or other affected extracutaneous tissue

Minor:

  1. > 25% atypical or spindle-shaped mast cells on biopsy section, or >25% of the marrow aspirate mast cells are immature or atypical
  2. Persistently elevated tryptase >20ng/mL
  3. C-Kit mutation at codon 816 D816V
  4. Mast cells express CD25 and/or CD2 in addition to normal mast cell markers
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18
Q

Flow cytometry features of SM

A

Cd117+ Cd25+ Cd2+, cKIT D816V mutation

  • Normal mast cells are CD25-/CD2-)
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19
Q

Elevated peripheral eosinophils. What 4 molecular tests to order?

A
  1. PDGFRA
  2. PDGFRB
  3. FGFR1
  4. JAK2- V617F
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20
Q

What cytokine is upregulated in Castleman’s disease? What is the treatment.

A

IL-6

Siltuximab

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21
Q 
What is the enzymes missing and what accumulates in: Variegate porphyria
Hereditary copropophyria (aka. Mixed porphyria)
A

Variegate porphyria
Enzyme- Protoporphyrinogen oxidase (PPOX)
Accumulates: ALA, PBG, Copro (urine); proto (plasma + fecal)

Hereditary copropophyria (aka. Mixed porphyria)
Enzyme- Corproporphyrinogen III oxidase (CPOX)
Accumulates: ALA, PBG, Copro (urine); copro (blood+ fecal)

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22
Q

Methemoglobulinemia - 4 causes

A

Congenital Causes:
Cytochrome b5 reductase deficiency
Hemoglobin M
Cytochrome b5 deficiency

Acquired Causes (most)
Drugs - dapsone, topical anesthetic agents
Inhaled nitric oxide
Quinine, Chloroquine, hydrogen peroxide, nephthalen (moth balls)

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23
Q

Pathophys of Methemoglobulinemia

A

Methemoglobin is an altered state of hemoglobin in which the heme iron is oxidized from the ferrous (Fe2+) to the ferric (Fe3+) state. The ferric hemes of methemoglobin do not bind O2. The ferric heme in the hemoglobin tetramer also causes the remaining normal ferrous hemes within the same tetrameric hemoglobin molecule to have increased O2 affinity. (L shift)

The major physiologically important pathway for reducing methemoglobin back to hemoglobin is the NADH-dependent reaction catalyzed by cytochrome b5 reductase (b5R)

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24
Q

List 4 clinical syndromes associated with EBV that are NOT neoplastic or autoimmune cytopenias.

A
  1. Oral hairy leukoplakia
  2. HLH
  3. Lymphomatoid granulomatosis
  4. Neurologic manifestations → Aspectic meningitis, encephalomeningitis, optic neuritis, transverse myelitis, GBS, facial nerve palsy
  5. Hematologic abnormalities → AA, TTP/HUS, DIC, hemolytic anemia
    Acute infectious mononucleosis
    Hepatitis
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25
Q

Diagnostic criteria of HLH

A

Need 5 of 9:

  • Fever ≥38.5°C
  • Splenomegaly
  • Peripheral blood cytopenia, with at least two of the following: Hg<90 platelets <100, ANc <0.1
  • Hypertriglyceridemia (>2.0 mmol/L) and/or hypofibrinogenemia (fibrinogen <1.5
  • Hemophagocytosis in bone marrow, spleen, lymph node, or liver
  • Low or absent NK cell activity
  • Ferritin >500 ng/mL
  • Elevated soluble CD25 (soluble IL-2 receptor alpha [sIL-2R]) two standard deviations above age-adjusted laboratory-specific norms
  • Elevated CXCL9–> chemokine CXCL9 (which is regulated by IFN gamma)
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26
Q

Name 3 causes of hemophagocytic lymphohistiocytosis in adult patients

A

o Infection (EBV)
o Lymphoproliferative disorders
o Autoimmune disease (SLE)
o Drugs (etanercept, gold salts, checkpoint inhibitors)

27
Q

Diamond Blackfan anemia:

  1. MCV high or low?
  2. Elevation of what enzyme and what type of Hg?
  3. Mutation in what gene?
A
  1. High MCV
  2. Elevated adenosine deaminase (ADA), hgF also upregulated
  3. RPS19 gene, heterozygous mutation
28
Q

Explain Neonatal alloimmune neutropenia (NAIN). What type of antibodies are involved?

A
  • Transplacental passage of maternal antibodies that re- act with paternal antigens on the infant’s neutrophils.
  • Dx: confirm antigenic differences between maternal and paternal neutrophils, most commonly the NA1 and NA2 alleles, and by demonstrating maternal antibodies that bind to paternal neutrophils
  • Usually self resolves as maternal antibodies disappear from babies circulation
29
Q

Kid with hemolysis, anemia and giant vascular tumor. What is the diagnosis?

A

Kasabach-Merritt phenomenon is characterized by thrombocytopenia and microangiopathic anemia associated with the vascular tumors

30
Q

Broadly speaking, the heme biosynthetic pathway includes conversion of ______ + ______ (by the action of ______) in the mitochondria into ______(final step in the pathway).

A

Glycine + sucinyl Coa (mitcohrondria) —> ALA (catalyzed by ALA synthase)—> protoporphyrin

protoporphyrin coupled with iron to make heme!

31
Q

ALA synthesis is controlled in the liver by ALAS1. What upregulates and downregulates ALAS1?

A

Down regulates: increased heme, glucose
Up regulates: chemicals, steroids, stress, starvation, alcohol.

In erythroid cells, ALA synthesis is affected by iron availability.

32
Q

What are the 4 acute porphyrias, the enzymes involved and the inheritance pattern?

A
  1. Acute intermittent porphyria–>PBGD–> AD
  2. Hereditary coproporphyria–> Coproporphyrinogen oxidase (CPOX)–>AD
  3. Variegata Porphyria—> Protoporphyrinogen oxidase (PPOX)–>AD
  4. ALA dehydratase porphyria—> ALA dehydratase –>AR!
    * also weird in that only ALA found in urine (not PBG), can be a/w MPNs, also not skin findings.

“AVHA”
AIP most common
ALAD porphyria rarest

33
Q

What are the 4 non-acute porphyrias, the enzymes involved and the inheritance pattern?

A
  1. Porphyria cutanea tarda—> Uroporphyrinogen decarboxylase (UROD)–>AD
  2. Erythropoietic protoporphyria—> Ferrochelatase–>AR (most common type in childhood)
  3. Congenital erythropoietic porphyria–>Uroporphyrinogen III synthase–>AR
  4. Hepatoerythropoietic porphyria>Uroporphyrinogen decarboxylase–>AR
34
Q

10 symptoms of acute prophyrias.

A
  1. Constipation
  2. Bladder paresis
  3. Nausea/ vomiting/abdo pain
  4. Skin manifestations (Not AIP)
  5. Peripheral neuropathy-motor +sensory
  6. Neurologic manifestations (seizures[hypoNa], PRES)
  7. Psychiatric manifestations (insomnia, restlessness, depression, psychosis)
  8. Fatigue
  9. Hypertension, tachycardia (monitor for arrhythmia)
  10. liver involvement–higher risk of HCC, monitor with US
35
Q

MOA of hemin in acute prophyria?

A

binds to hemopexin and albumin in the plasma and is taken up by the liver, where it suppresses ALAS.

SEs: fever, hemolysis, and before reconstitution with albumin was employed, phlebitis.

Response to therapy often occurs within 1 to 2 days, but complete 4 day course. Safe in pregnancy.

36
Q

5 symptoms of cutaneous, non-acute prophyrias

A
  1. skin bullae, hands and sun exposed areas.
  2. scaring
  3. hyperpigmentation
  4. increased hair growth
  5. psuedoscleroderma
  6. liver dysfunction
  7. HCC
  8. erythrodontia (red teeth)
37
Q

What is psuedoporphyria?

A

bullous disorder with clinical and histologic features similar to those of PCT but without the characteristic biochemical abnormalities.

  • Usually drug induced- Dapsone, Naproxen, Amiodarone, Lasix or seen on pts on dialysis.
  • Skin rashes all over the body (not just hands)
  • No hypertrichosis, or hyperpigmentation (Congenital erythropoietic porphyria)
38
Q

2 bone marrow disorders that do not progress to AA

A

CDAs (never)
TAR (rare)
Cyclic Neutropenia or severe congenital neutropenia

39
Q
  1. 2 treatments for unicentric castleman’s disease

2. 2 most important tests to order in multicentric castleman’s

A
  1. Surgery to remove mass, IR embolization, Rituximab, steroids. (RT ONLY IF REFRACTORY)
  2. HIV, HHV-8
40
Q

Treatment of HHV-8 positive and HHV-8 negative multicentric Castleman’s disease

A
  1. HHV-8 positive: (always driven by IL-6)
    - Rituximab (depletes HHV-8 reservoir) +/- Etoposide
    - valganciclovir maintenance
    - HIV patients should be on HAART
  2. HHV-8 negative: (usually drive by IL-6)
    - Siltuximab, Tocilizumab
    - Rituximab, steroids
    - If refractory–> CHOP chemo, anakinra (IL-1), Bortezomib
41
Q

What is the name of a recently approved monoclonal Ab used in the treatment of primary HLH, refractory/recurrent/progressive or intolerant to conventional Tx?

A

Emapalumab
Monoclonal Ab that binds and neutralizes IFN-gamma.
63% response rate and well tolerated.

42
Q

What is chronic granulomatous disease? How is it inherited, diagnosed and treated?

A
  • chronic immunodeficiency diagnosed in childhood-
  • linked to mutations in genes encoding components of the NADPH oxidase system.
  • characterized by recurrent bacterial + fungal infxns (need proph Abx/Afungals)
  • X-linked (CyBB gene) or AR

Dx:abnormal neutrophil oxidative burst by histochemistry (nitrotet­razolium blue test) or flow cyto or genetic testing.
Tx:IFN-gamma

43
Q

What is hyper IgE syndrome?

A
  • AD, mutations in STAT 3 gene, or AR is DOCK8
  • Characterized by severe eczema in first weeks of life
  • Mild neutropenia, recurrent Staphylococcus aureus or Candida in­ infxs of the skin, sinuses, or lungs, and elevated serum IgE levels.
44
Q

5 major groups of Histocyte disorders?

A

1) Langerhans­ related (L group)
2) cutaneous and mucocutaneous (C group)
3) malignant histiocytoses (M group)
4) Rosai­Dorfman disease (R group)
5) hemophagocytic lymphohistiocytosis and macrophage activation syndrome (H group).

45
Q

Macrophage activation syndrome (MAS) is considered to be a variation of sHLH and most commonly occurs in individuals with what autoimmune disorder?

A

juvenile idiopathic arthritis

Can also be seen in lupus, kawasaki’s

generally responds to high­-dose corticosteroids alone or in combination with cyclosporine.

46
Q

The HLH­94 pro­tocol consists of an initial 8 weeks of _____ and _______. Followed by a continuation phase for those with familial, relapsing, or severe and persistent disease which consists of what agents? IT chemo with what agent is added for those with CNS disease?

A

Induction: 8 weeks of Dex and Etoposide
Continuation: pulse etoposide, dex and CycA
IT chemo:MTX

Usually continue until HSCT if fHLH.

47
Q

What is Langerhans-related histiocytoses?

A

A neoplastic disorder of dendritic cells as­sociated with polymorphic cellular infiltration and uni (usually bone) or multi-organ tissue damage (skin, lung, CNS)

Need tissue Bx: Langerhans cells –> C1a, S100 CD207 positive, or or by the identification of Birbeck granules on EM

Gene affected: BRAF V600E mutation (~70%)

48
Q

What is Rosai-Dorfman disease, how does it present?

A

nonmalignant proliferation of histiocytes within lymph node sinuses and lymphatics in extranodal sites.

Presents with fever, sinus histiocytosis + massive LAD in neck

May spontaneously recover. No standard treatment (steroids, RT, Sx)

49
Q

What is treatment for Langerhans-related histiocytoses?

A

uni-organ involvement: usually bone, RT or surgery; skin involvement, topical or UV therapy).
Multi-organ: Induction therapy with vinblastine and prednisone commonly

50
Q

What is Erdheim­ Chester disease (ECD)?

A

Tissue infiltration by foamy or lipid­laden histio­cytes with associated fibrosis + histiocytes infiltration in tissues, especially bones, retroperitoneum, heart, lung and brain

Common features:
“Hairy kidney”
“coated aorta”
symmetric dia/metaphyseal osteosclerosis of the legs (bone pain is #1 presenting symptom) Pericarditis/pericardial effusion
Parenchymal CNS lesions/ cerebellar ataxia
Diabetes insipidus (pituitary involvement)
Retrooribital involvement with exopthalmus
Retroperitoneal fibrosis
xanthelasma-like lesions

Bx:ECD histiocytes are pos for CD68, CD163, neg for CD1a and CD207

Tx: vemurafenib

51
Q

What are the biopsy findings and treatment options for Erdheim ­Chester disease (ECD)?

A

Bx:ECD histiocytes are pos for CD68, CD163, neg for CD1a, S100 or CD207.
90% issues with MAP-k pathway
50% positive for BRAF V600E.
Fatty (lipid)-laden, foamy histiocytes, distinctive, large cells with multiple nuclei (Touton giant cells)

Tx:, vemurafenib,
MEK inhibitors such as trametinib or cobimetinib
IFN-alpha
Cytokine directed therapies (Toci, Anakinara)

52
Q

What is Niemann-Pick disease?

A

AR, lysosomal storage disorder caused by mutations in the sphingomyelin phosphodies­ terase­1 (SMPD1) gene, resulting in deficient sphingomy­elinase activity and accumulation of sphingomyelin.

Features:
splenomegaly, cytopenias, type A (severe, neuro symptoms, die in childhood)

histologic hallmark of NPD is tissue accumulation of histiocytes filled with lipid droplets cells a “mulberry­like” or “honeycomb­like” appearance.

53
Q

3 cytokines involved in myeloma cell growth?

A
  1. IL6 – secreted in bone marrow stroma (Inhibits apoptosis and increases proliferation of PCs)
  2. Toll like receptors -cause increased myeloma cell proliferation, survival, and resistance to dexamethasone-induced apoptosis
  3. TNF
  4. IL21
  5. VEGF (increased vascularity)
54
Q

5 causes of massive splenomegaly?

A
  1. Lysosomal storage pool–>Gaucher’s Dz, Neimann Pick
  2. Leukemias–> CML, , HCL
  3. Hemoglobinopaties–>Beta thal, SCD children
  4. Viral infections–>EBV, CMV
  5. MPNS–>MF>PV,CML,ET
  6. Lymphomas–> Any
  7. Infiltrative- HLH, Rosai-Dorfman disease, amyloid, sarcoid
  8. Parasitic- Malaria, schistosomiasis, toxoplasmosis, leishmaniasis

Many others.

55
Q

What does TAFRO stand for?

A 
Thromboyctopenia
Anasarca
Fever 
Reticulin Fibrosis 
Organomegaly

(subtype of idiopathic multi-centric castleman’s disease)

56
Q

HHV8 negative multicentric castleman’s disease which is not responding to IL-6 therapy (ie. Siltuxmab or Toci). What else can be tried?

A
  1. Ritux
  2. Anakinara (IL-1)
  3. Cyclophosphamide
  4. vinblastine
  5. etoposide
  6. R-CHOP, R-CVP
  7. Bortezomib
  8. Imids
57
Q

Lab criteria (minor criteria) for multicentric castleman’s disease. Need at least one.

*Don’t memorize values

A
  1. Elevated CRP (>10 mg/L) or ESR (>15 mm/hour)¶
  2. Anemia (hemoglobin <12.5 g/dL for males, hemoglobin <11.5 g/dL for females)
  3. Thrombocytopenia (platelet count <150 k/microL) or thrombocytosis (platelet count >400 k/microL)
  4. Hypoalbuminemia (albumin <3.5 g/dL)
  5. Renal dysfunction (eGFR <60 mL/min/1.73 m2) or proteinuria (total protein 150 mg/24 hours or 10 mg/100 mL)
  6. Polyclonal hypergammaglobulinemia (total gamma-globulin or immunoglobulin G >1700 mg/dL)
58
Q

What are the classic IHC markers for Langerhans cell histiocytosis?

A

C1a and CD207 are the classic markers for LCH.

Vinblastine and prednisone is the standard up front induction regimen.

59
Q

What is VEXAS syndrome? What are 3 potential manifestations? What is the Tx?

A

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic)

  • inflammatory condition with NFKB1 pathway and UBA1
  • relapsing polychondritis, Sweet syndrome, polyarteritis nodosa, giant-cell arteritis, MDS, and MM.
  • Tx is steroids!
60
Q

Familial Mediterranean fever: Inheritance, gene, treatment and clinical characteristics. What hematologic disorder are they at risk of developing?

A

Inheritance: AR
Gene: MEFV
Clinical: spontaneous fever, serosa inflammation and neutrophilia which resolves in 1-3 days
Tx: Colchicine
*At risk of developing AA amyloidosis of the kidney

61
Q

What is the classic morphologic finding for each of the following histiocyte disorders?

  1. LCH
  2. ECS
  3. RDS
A
  1. LCH- “Birbank granules”
  2. EC- “foamy, lipid laden histiocytes”, Touton Giant cells
  3. RD- “emperipoesis” (intact cell consumed by another cell. Differentiated from HLH in that the consumed cell remains intact and is not degraded by proteloytic enzymes”.

latter 2 are CD1a, CD 207 neg, RDS is always s100+, ECS is s100 V

62
Q

What are the “C” findings of systemic mastocytosis?

A
  1. BM infiltration (Hg <100, plt <100, Anc <1.0)
  2. Splenomegaly with hypersplenism
  3. Hepatomegaly with abnormal liver enzymes, ascites or portal HTN
  4. GI infiltration with malabsorption
  5. Skeletal involvement with large osteolytic lesions or pathologic #.
63
Q

2 ways to distinguish P. falciparum from P. vivax or P. ovale

A
  1. Erythrocytes infected by P. vivax or P. ovale parasites often appear enlarged compared with adjacent, uninfected cells, whereas P. malariae and P. falciparum parasites are usually found in normal-sized RBCs
  2. Schűffner’s stippling, noted as numerous small uniform pink granules in the RBC, is usually seen in RBCs infected with P. vivax and P. ovale and not P. malariae and P. falciparum infection.

Hematology RC Editable (28 decks)

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