Vitamin B12 & Folate deficiency Flashcards

1
Q

Define B12 deficiency.

A

Vitamin B12 deficiency is a common condition that can manifest with neurological, psychiatric, and haematological disorders.

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2
Q

What is the aetiology of B12 deficiency?

A

Decreased dietary intake - vegans, strict vegetarians
Diminished gastric breakdown of vitamin B12 from food - atrophic gastritis, pernicious anaemia
Malabsorption from the gastrointestinal tract - Coeliac, Crohn’s, bacterial overgrowth syndromes

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3
Q

What are the cut-offs for B12 deficiency?

A
  • < 148 pmols/L (< 200 picograms/mL) indicates probable deficiency;
  • 148 to 258 pmols/L (201-350 picograms/mL) indicates possible deficiency;
  • > 258 pmols/L (> 350 picograms/mL) indicates that deficiency is unlikely
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4
Q

How common is B12 deficiency?

A

6% < 60yrs affected
20% > 60yrs affected

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5
Q

What are the sources of B12?

A

NB: B12 is an essential vitamin only obtained from diet or supplementation

Animal and dairy = meat, poultry, milk, eggs
Supplementation

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6
Q

What are some groups at-risk of B12 deficiency?

A
  • Vegans
  • History of gastric or intestinal surgery
  • History of atrophic gastritis
  • Pernicious anaemia, in which autoimmune destruction of the parietal cells (which produce intrinsic factor) leads to reduced vitamin B12 absorption from the gastrointestinal tract
  • Gastric malabsorption.
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7
Q

Describe the process by which B12 enters the blood stream.

A

B12 ingested and released from food by peptic acid
B12 binds IF and this complex travels for endocytosis by the terminal ileum
B12 is bound by transcobalamin and is released into the serum for utilisation

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8
Q

Why does B12 deficiency afffect neural function?

A

Because it is important in conversion of homocysteine to methionine which is needed for S-adenosylmethionine production (important in neural function)

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9
Q

What are the clinical features of B12 deficiency?

A
  • macrocytic anaemia
  • sore tongue and mouth
  • neurological symptoms - the dorsal column is usually affected first (joint position, vibration) prior to distal paraesthesia
  • neuropsychiatric symptoms: e.g. mood disturbances

Other:
* glossitis
* angular cheilitis
* pallor
* Positive Romberg’s
* decreased vibration sense
* ataxia

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10
Q

What is the management of B12 deficiency?

A

No severe symptoms:
* IM hydroxycobalamin - 1mg x3/week for 2 weeks then once every 3 months.

NB: treat B12 deficiency before any folic acid to avoid precipitating subacute combined degeneration of the cord

If symptomatic, severe deficiency:
* Daily IM cyanocobalamin 1-2 weeks

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11
Q

What are the complications and prognosis of B12 deficiency?

A

Untreated pernicious anaemia -> gastric cancer
Progressive anaemia, leukopenia, thrombocytopenia
Progressive neurological damage - many cases are irreversible, early diagnosis in asymptomatic stage is crucial
Dementia, peripheral neuropathy, depression

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12
Q

Define folate deficiency.

A

B9 deficiency which most commonly manifests with megalobalstic anaemia WITHOUT neuropathy.

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13
Q

What are some sources of folate?

A

Green vegetables
Legumes
Some fruits

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14
Q

What is the aetiology of folate deficiency?

A

Inadequate intake - unfortified cereals, excess cooking destroying folate, poor intake, special phenylketonuria diet, goat’s milk (completely deficient in folate)

Intestinal malabsorption - tropical sprue, coeliac

Increased demand - pregnancy, lactation

Increased loss - chronic dialysis, chronic haemolytic disease, exfoliative dermatitis

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15
Q

What are the functions of folate in the body?

A

Essential for purine and thymidylate synthesis
DNA synthesis and repair
Normal development of CNS

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16
Q

Why is homocysteine a biomarker of folate deficiency?

A

Both folate and vitamin B12 (cobalamin) are cofactors in methylation of homocysteine to form methionine; therefore, deficiency of either vitamin increases homocysteine (precursor).

17
Q

What are the clinical features of B12 deficiency?

A

Megaloblastic anaemia
Severe: symptomatic macrocytic anaemia and pancytopenia

  • Fatigue
  • Palpitations
  • SOB
  • Dizziness
  • Headache
  • Jaundice
  • Loss of appetite
  • Weight loss
  • Glossitis and painful swallowing
  • Anular stomatitis
  • IBD symptoms - may be the cause of the folate deficiency

Neurological signs and symptoms are not typically seen in patients with folate deficiency.

18
Q

How do you diagnose folate deficiency?

A

FBC - macrocytosis, low Hb,
Peripheral smear - hypersegmented neutrophils
Reticulocyte count
Serum folate - low < 7nmol/L
Request B12 alongside folate.

19
Q

What is the management of folate deficiency?

A

Oral folic acid - 1mg PO OD for 1-3months; better than parenteral due to several effective pathways of absorption. Only offer parenteral if malabsoprtion.

Monitoring - reticulocyte response at 1 week and FBC at 8 weeks

If severe consider transfusion.

20
Q

What is the prognosis with folate deficiency?

A

Haematological findings are usually corrected at 8 weeks