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Classical Hematology > Iron Disorders, Porphyria, and HLH > Flashcards

Iron Disorders, Porphyria, and HLH Flashcards

1
Q

Where is the majority of iron stored in the body (2 places)

A

RBCs and Bone marrow

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2
Q

How much (%) of total iron body content does circulating iron bound to transferrin represent?

A

0.1%

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3
Q

Describe the effect of Hepcidin on iron absorption

A

Ferroportin takes iron from the cell into blood stream. Hepcidin downregulates the effect of ferroportin. Hepcidin is itself regulated by total body iron and inflammation (both of which upregulate hepcidin, decreasing the amount of iron in bloodstream)

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4
Q

What mutation is seen in Iron Refractory IDA?

A

TMPRSS6

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5
Q

What two things help with the absorption of oral iron salts?

A

Take with Vitamin C or water
Avoid food or coffee

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6
Q

What IV iron formulation requires a test dose?

A

Iron dextran (for hypersensitivty/anaphylaxis)

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7
Q

Patient with Hgb 10, MCV 56, RDW 19%, Ferritin is 9. Diagnosed with IDA. Given 3 months of oral iron with no improvement, standard IV iron also no improvement. Diagnosis and potential treatment?

A

IRIDA. High doses of IV iron may overcome this

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8
Q

Pathophysiology of IRIDA

A

Autosomal recessive TMPRSS6 mutation upregulates hepcidin, meaning there is poor oral iron absorption

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9
Q

Pathogenesis of anemia of chronic inflammation

A

IL-6 causes increased hepcidin production to minimize iron availability

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10
Q

What test can be more helpful in confirming a diagnosis of anemia of chronic inflammation?

A

Soluble transferrin receptor, which is less susceptible to changes in inflammation

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11
Q

Pathophysiology of iron accumulation

A

Iron stores increase and eventually exceed the capacity of transferrin. Then non-transferrin bound iron will accumulate in organs, generating free radicals and ROS, which damage membrane lipids and cells

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12
Q

Three main organ systems affected by iron overload

A

Liver
Heart
Endocrine (hypogonadism, hypothyroid, Diabetes)

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13
Q

What is a normal liver iron content on MRI liver?

A

<1.8 mg Fe/g dry weight

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14
Q

What is a normal cardiac T2* when looking at iron content?

A

> 20 ms

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15
Q

When treating iron overload with phlebotomy, what is the goal ferritin

A

<100

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16
Q

Cardiac MRI or Liver MRI indications for chelation

A

LIC >3 or 7 mg/g dry weight
T2* <20 ms

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17
Q

Treatment goals (ferritin, liver MRI, cardiac MRI) for chelation therapy

A

Ferritin <1000
LIC 2-7 mg/g
Cardiac T2* >20 ms

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18
Q

Usual first line iron chelator

A

Deferasirox

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19
Q

Adverse effects of deferasirox

A

High frequency hearing loss
GI discomfort
Renal toxicity

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20
Q

What is the preferred iron chelator for patients with cardiac iron overload and dysrhythmias?

A

Deferoxamine

21
Q

Adverse effects of deferoxamine

A

Local reactions
High frequency hearing loss
Vision loss, color vision changes, retinal changes
bony deformities
Infection with Yersinia and Klebsiella

22
Q

What is the iron chelator that has a risk of agranulocytosis

A

Deferiprone

23
Q

How do you treat a pregnant woman with Hereditary hemochromatosis?

A

Weekly IVIG starting at 18 weeks

24
Q

Pathophysiology of Hereditary Hemochromatosis

A

AR mutation in HFE gene (most commonly, but can see mutations in transferrin receptor, ferroportin. These mutations downregulate hepcidin, meaning an increased absorption of iron (4x)

25
Q

What is the pathophysiology of inherited sideroblastic anemia?

A

X-linked mutation in ALAS2 is most common. That leads to pathologic iron accumulation in mitochondria of erythroid precursors. These iron-laden mitochondria encircle the nucleus and are called ringed sideroblasts

26
Q

Peripheral smear findings of someone with siderobalstic anemia

A

Dimorphic population of RBCs
Hypochromic, microcytic cells
Prussian blue staining shows ringed sideroblasts and Pappenheimer bodies

27
Q

Treatment for sideroblastic anemia

A

Pyridoxing (B6) supplementation

28
Q

Pathophysiology of Porphyria Cutanea Tarda

A

UROD mutation causing deficiency of Uroporphyrinogen decarboxylase

29
Q

Clinical features of porhyria cutanea tarda

A

Blistering skin lesions on sun exposed areas, susceptibility increased by alcohol, smoking, estrogen, HCV, HIV.

30
Q

Lab diagnosis of PCT

A

Plasma or urine porphyrins are elevated
ALA and PBG are normal

31
Q

Treatment and treatment goal for PCT

A

Phlebotomy for target ferritin <20
Low dose HCQ also an option
Treat underlying HCV if present

32
Q

Long term complications of PCT

A

Skin infection, scarring
Liver damage, HCC

33
Q

Pathophysiology of Acute Intermittent Porphyria

A

Autosomal dominant mutation causing deficiency in porphobilinogen deaminase, leading to elevation of porphobilinogen and Aminolevulinic acid (ALA)

34
Q

Clinical manifestations of AIP

A

Neurologic symptoms
Abdominal pain
No skin symptoms
Dark urine

35
Q

How to make laboratory diagnosis of AIP

A

Urine prophobilinogen will be markedly elevated
ALA will also be high

36
Q

Management for acute AIP attacks?

A

Hemin
Can do glucose for mild attaks

37
Q

What is the treatment to prevent AIP attacks?

A

Givosiran

38
Q

What is the indication of Givosiran?

A

Prevention of acute intermittent porphyria attacks

39
Q

Pathophysiology of Erythropoietic Protoporphyria?

A

AR loss of function mutation in ferrochelatase

40
Q

Clinical manifestation of Erythropoietic Protoporphyria

A

Painful, non-blistering photosensitivity

41
Q

Management of Erythropoietic Protoporphyria

A

Afamelanotide and beta-carotene can darken skin, but doesn’t change porphyrin levels
BMT can be curative

42
Q

8 Diagnostic Criteria for HLH (and how many do you need to make the diagnosis?)

A

5 of 8
Fever
Splenomegaly
Cytopenia
HyperTG and/or hypofibrinogenemia
Ferritin >500
sCD25 >2400
Decreased or absent NK-cell activity (not useful in adults)
Hemophagocytosis in bone marrow, CSF, or LNs

43
Q

What is the leading organism causing acquired HLH?

A

EBV

44
Q

What is the use of the Optimized HLH inflammatory index?

A

Predictive of mortality. Suggests that the inflammatory profile (high sCD25 and ferritin) are the most important things for prognosis

45
Q

Treatment for HLH

A

Dexamethasone, cyclosporine, and etoposide

46
Q

What are treatment options for someone relapsed with HLH after prior induction therapy?

A

Alemtuzumab

47
Q

First Line Treatment for Post-Immune Effector Cell Hyperinflammatory syndromes

A

Anakinra +/- steroids

48
Q

Second Line Treatment for Post-Immune Effector Cell Hyperinflammatory syndromes

A

Ruxolitinib

49
Q

Third line treatment for Post-Immune Effector Cell Hyperinflammatory syndromes

A

Low dose etoposide

Classical Hematology (15 decks)

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