B12 and folate deficiencies Flashcards
What are the roles of vitamin B12 and folate
DNA synthesis
Integrity of the nervous system
DNA synthesis
Homocystine metabolism
Both are needed for production of deoxythymidine
Which cells are affected by a vit B12/folate deficiency
All rapidly dividing cells Bone marrow Epithelial surfaces of mouth and gut Gonads Embryos
What are the clinical features of a vit B12/folate deficiency
Anemia: weak, tired, short of breath (macrocytic and megaloblastic) Jaundice Glossitis and angular cheilosis Weight loss, change of bowel habit Sterility
What are the causes of macrocytic anaemia
Vitamin B12/folate deficiency
Liver disease or alcohol
Hypothyroid
Drugs e.g. azathioprine
Haematological disorders (Myelodysplasia,
aplastic anemia
Reticulocytosis e.g. chronic haemolytic anemia)
What is the difference between macrocytic and megaloblastic anaemia
Macrocytic - average red cell size is above normal range
Megaloblastic - morphological change in red cell precursors in the bone marrow.
Define megaloblastic anaemia
asynchronous maturation of the nucleus and cytoplasm in the erythroid series
Maturing red cells seen in bone marrow
Describe the peripheral blood in megaloblastic anaemia
Anisocytosis
Large red cells
Hypersegmented neutrophils
Giant metamyelocytes
Give a source of folate
Fresh leafy vegetables
Destroyed by overcooking/canning/processing
What causes an increased demands in folate
PHYSIOLOGICAL
Pregnancy
Adolescence
Premature babies
PATHOLOGICAL
Malignancy
Erythoderma
Haemolytic anaemias
How is folate deficiency diagnosed/assessed
History (diet, alcohol, illness)
Examination (skin disease, alcoholic liver disease)
Lab
FBC and film
Folate levels in the blood
What are the consequences of folate deficiency
Megaloblastic, macrocytic anaemia
Neural tube defects in a developing foetus
Increased risk of thrombosis in association with variant enzymes involved in homocysteine metabolism
Give examples of neural tube defects
Spina bifida
Anencephaly
What are very high homocysteine levels associated with
Atherosclerosis
Premature vascular disease
High rate of thrombosis
What are mildly elevated levels of homocysteine associated with
Cardiovascular disease
arterial or venous thrombosis
What are the classic features of high homocysteine
Tingling in fingers (parasthesiae) Family history of auto-immune disease Glossitis (inflamed tongue) Premature grey hair Falls over when eyes closed Romberg's sign (loss of proprioception)