What is anaemia of chronic disease?
Anaemia of chronic disease is a condition characterised by a functional lack of iron and is commonly associated with chronic inflammatory conditions, chronic infections and malignancy
What is myelofibrosis?
Myelofibrosis is characterised by replacement of the hematopoietic tissue by connective tissue leading to impairment of the generation of all blood cells (pancytopenia)
What is homocystinuria?
- Homocystinuria is an autosomal recessive disorder, commonly due to a defect in cystathionine β-synthase, leading to an inability in breaking down methionine
- Excess homocystine (oxidised form of homocysteine) is excreted in urine
Why is hyperparathyroidism?
Hyperparathyroidism is a rare hormone disorder due to the excessive production of parathyroid hormone by the parathyroid glands
What is a phaeochromocytoma?
- A phaeochromocytoma is a chromaffin cell tumour which secretes catecholamines (mainly adrenaline)
- It may precipitate life-threatening hypertension
What are hyperlipoproteinaemias?
- Hyperlipoproteinaemias are conditions causing a raised plasma level of 1/more lipoprotein classes as a result of over-production or under-removal
- This occurs due to defects in enzymes, receptors or apolipoproteins
What is a metabolic syndrome?
A metabolic syndrome is a cluster of the most dangerous risk factors associated with CVD – diabetes and raised fasting plasma glucose, abdominal obesity, high cholesterol and BP
What is hypopituitarism?
Hypopituitarism is a state of insufficient pituitary hormone production, commonly due to a pituitary adenoma and rarely due to radiation therapy, inflammatory disease or head injury
What are myeloproliferative neoplasms?
- Myeloproliferative neoplasms are a group of diseases of the bone marrow in which excess cells are produced
- They arise from genetic mutations in the precursors of the myeloid lineage, specifically the gene coding for JAK2
What is iron deficiency anaemia?
Iron deficiency anaemia is the type of anaemia which develops if the supply of iron is inadequate for the requirements of haemoglobin synthesis
What is microcytic anaemia?
- Microcytic anemia is a form of anaemia wherein there is a presence of small, hypochromic red blood cells in a peripheral blood smear
- It is usually characterised by a low MCV
What are malabsorption conditions?
- Malapsorption conditions are caused by the failure to digest and/or absorb ingest nutrients e.g. Coeliac disease and Crohn's disease
- Under-nutrition may result from eating disorders like anorexia and bulimia nervosa or from reduced availability of food such as in developing countries
What is aplastic anaemia?
Aplastic anaemia refers to an inability of haematopoietic stem cells to generate mature blood cells
What is hyperthyroidism?
Hyperthyroidism is an endocrine disorder wherein the thyroid gland is overactive and produces an excess amount of T3/T4
What is Secondary Lactase Deficiency?
- Secondary lactase deficiency is a condition occurring due to injury to small intestine
- It occurs in both infants and adults and is generally reversible
What is pyruvate kinase deficiency?
Pyruvate kinase deficiency is an inherited disorder due to the lack of the enzyme pyruvate kinase, which is used by red blood cells to form ATP in the final step of glycolysis
What is Congenital lactase deficiency?
- Congenital lactase deficiency is an extremely rare condition caused by an autosomal recessive defect in lactase gene
- The infant cannot digest breast milk
What is essential thrombocythaemia?
Essential thrombocythaemia is a condition characterised by the overproduction of platelets by megakaryocytes
What is haemolytic anaemia?
Haemolytic anemia is a form of anaemia due to hemolysis either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular, spleen)
What is pernicious anaemia?
- Pernicious anaemia is a a deficiency in intrinsic factor which results in anaemia from a lack of B12 absorption
- The B12-intrinsic factor complex needs to form to be internalised by receptors in the ileum
What is glucose-6-phosphate dehydrogenase deficiency?
- G6PDH deficiency is an X- linked recessive inborn error of metabolism wherein the G6PDH enzyme in the pentose phosphate pathway is deficient
- It presents with RBC defects as NADPH cannot be produced by the pentose phosphate in the erythrocytes to reduce glutathione and protect against oxidative damage
What is chronic granulomatous disease?
Chronic granulomatous disease is a condition caused by a genetic defect in NADPH oxidase complex leading to an enhanced susceptibility to bacterial infections e.g. pneumonia, cellulitis, impetigo
What is galactosaemia?
Galactosaemia is a clinical condition wherein one cannot use galactose obtained from the diet because of a lack of the kinase or transferase enzyme
What is megaloblastic anaemia?
Megaloblastic anaemia is a form of anaemia arising due to deficiencies in Vitamin B12 and folate as RBC precursor cells are unable to synthesise DNA and therefore divide
What is refeeding syndrome?
- Refeeding syndrome is a condition which can occur when nutritional support given to severely malnourished patients
- Ammonia toxicity significant factor (urea cycle down regulated)
What is hyperaldosteronism?
- Hyperaldosteronism is a physiological state/condition wherein there is an excessive production of aldosterone
- It can be primary due to a defect in adrenal cortex or secondary due to the over-activation of RAAS
What is Type II Diabetes?
- Type II Diabetes is a long-term metabolic disorder that is characterised by high blood sugar, insulin resistance, and relative lack of insulin
- 90% of patients are overweight/obese, over 40 years old and often asymptomatic (diagnosis made at routine health checks)
What is goitre?
- Goitre is the enlargement of the thyroid gland due to its overstimulation
- It may accompany either hypo- or hyperthyroidism
What is hypothyroidism?
Hypothyroidism is an endocrine disorder wherein the thyroid gland is underactive and produces an insufficient amount of T3/T4
What is normocytic anaemia?
Normocytic anemia is a form of anaemia with a normal MCV but a decreased haematocrit and haemoglobin