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FMCI-Metabolism (LUSUMA) > Clinical Conditions > Flashcards

Clinical Conditions Flashcards

1
Q

What is anaemia of chronic disease?

A

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

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2
Q

What is myelofibrosis?

A

Myelofibrosis is characterised by replacement of the hematopoietic tissue by connective tissue leading to impairment of the generation of all blood cells (pancytopenia)

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3
Q

What is homocystinuria?

A
  • 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
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4
Q

Why is hyperparathyroidism?

A

Hyperparathyroidism is a rare hormone disorder due to the excessive production of parathyroid hormone by the parathyroid glands

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5
Q

What is a phaeochromocytoma?

A
  • A phaeochromocytoma is a chromaffin cell tumour which secretes catecholamines (mainly adrenaline)
  • It may precipitate life-threatening hypertension
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6
Q

What are hyperlipoproteinaemias?

A
  • 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
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7
Q

What is a metabolic syndrome?

A

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

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8
Q

What is hypopituitarism?

A

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

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9
Q

What are myeloproliferative neoplasms?

A
  • 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
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10
Q

What is iron deficiency anaemia?

A

Iron deficiency anaemia is the type of anaemia which develops if the supply of iron is inadequate for the requirements of haemoglobin synthesis

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11
Q

What is microcytic anaemia?

A
  • 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
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12
Q

What are malabsorption conditions?

A
  • 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
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13
Q

What is aplastic anaemia?

A

Aplastic anaemia refers to an inability of haematopoietic stem cells to generate mature blood cells

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14
Q

What is hyperthyroidism?

A

Hyperthyroidism is an endocrine disorder wherein the thyroid gland is overactive and produces an excess amount of T3/T4

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15
Q

What is Secondary Lactase Deficiency?

A
  • Secondary lactase deficiency is a condition occurring due to injury to small intestine
  • It occurs in both infants and adults and is generally reversible
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16
Q

What is pyruvate kinase deficiency?

A

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

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17
Q

What is Congenital lactase deficiency?

A
  • Congenital lactase deficiency is an extremely rare condition caused by an autosomal recessive defect in lactase gene
  • The infant cannot digest breast milk
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18
Q

What is essential thrombocythaemia?

A

Essential thrombocythaemia is a condition characterised by the overproduction of platelets by megakaryocytes

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19
Q

What is haemolytic anaemia?

A

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)

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20
Q

What is pernicious anaemia?

A
  • 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
21
Q

What is glucose-6-phosphate dehydrogenase deficiency?

A
  • 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
22
Q

What is chronic granulomatous disease?

A

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

23
Q

What is galactosaemia?

A

Galactosaemia is a clinical condition wherein one cannot use galactose obtained from the diet because of a lack of the kinase or transferase enzyme

24
Q

What is megaloblastic anaemia?

A

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

25
Q

What is refeeding syndrome?

A
  • Refeeding syndrome is a condition which can occur when nutritional support given to severely malnourished patients
  • Ammonia toxicity significant factor (urea cycle down regulated)
26
Q

What is hyperaldosteronism?

A
  • 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
27
Q

What is Type II Diabetes?

A
  • 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)
28
Q

What is goitre?

A
  • Goitre is the enlargement of the thyroid gland due to its overstimulation
  • It may accompany either hypo- or hyperthyroidism
29
Q

What is hypothyroidism?

A

Hypothyroidism is an endocrine disorder wherein the thyroid gland is underactive and produces an insufficient amount of T3/T4

30
Q

What is normocytic anaemia?

A

Normocytic anemia is a form of anaemia with a normal MCV but a decreased haematocrit and haemoglobin

31
Q

What is hereditary spherocytosis?

A
  • Hereditary spherocytosis is a familial hemolytic disorder associated with a variety of mutations that lead to defects in RBC membrane proteins
  • The morphologic hallmark is the microspherocytes which are sphere-shaped erythrocytes rather than biconcave shaped
32
Q

What is diabetes mellitus?

A
  • Diabetes mellitus is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period
  • Over time, damage of small and large blood vessels causes premature death from cardiovascular diseases
33
Q

What is Graves’ disease?

A
  • Graves’ disease is an autoimmune disease resulting in hyperthyroidism caused by the production of thyroid stimulating immunoglobulin (TSI)
  • TSI continuously stimulates thyroid hormone secretion outside normal negative feedback control
34
Q

What is Cushing’s Syndrome?

A
  • Cushing’s Syndrome is a clinical condition arising due to chronic excessive exposure to cortisol
  • It leads to the re-distribution of fat especially in abdomen, supraclavicular fat pads, dorso-cervical fat pad, (buffalo hump), & on face (moon face)
35
Q

What is Hashimoto’s disease?

A
  • Hashimoto’s disease is an autoimmune disease resulting in destruction of thyroid follicles, leading to hypothyroidism
  • Is is 5x more common in women and goitre may be present
36
Q

What is hypercholesterolaemia?

A
  • Hypercholesterolaemia is a condition where there is a high level of cholesterol in blood
  • It presents with cholesterol depositions in various areas of body
37
Q

What is obesity?

A
  • Obesity is a chronic condition characterised by excess body fat and is most often defined on the basis of Body Mass Index (BMI)
  • The body weight in most adults represents the balance between energy intake and energy expenditure but other factors also contribute to weight gain e.g. genes, drug therapy, endocrine disorders
38
Q

What is macrocytic anaemia?

A
  • Macrocytic anaemia is a form of anaemia in which the red blood cells are larger than their normal volume
  • It is usually characterised by a high MCV
39
Q

What is phenylketonuria?

A
  • PKU is the common inborn error of amino acid metabolism due to an autosomal recessive deficiency in phenylalanine hydroxylase
  • Phenylalanine accumulates in the tissue, plasma & urine, hence presenting with phenylketones in urine (musty smell)
40
Q

What is polycythaemia vera?

A
  • Polycythaemia vera is a specific form of polycythaemia which arises from a myeloproliferative neoplasm in the bone marrow resulting in overproduction of erythrocytes
  • In most cases, it is driven by oncogenic mutations that constitutively activate the JAK-STAT signalling pathway
41
Q

What is hereditary hemochromatosis?

A
  • Hereditary hemochromatosis is an autosomal recessive disease characterised by excessive absorption of dietary iron
  • Iron accumulates in tissues and organs disrupting normal function e.g. liver, adrenal glands, heart, joints, and pancreas
42
Q

What is Addison’s disease?

A
  • Addison’s disease is a clinical condition due to chronic adrenal insufficiency, commonly due to the destructive atrophy from autoimmune response
  • Affects more women than men and the exact reason for autoimmunity is unknown
43
Q

What is hyperpituitarism?

A

Hyperpituitarism is a state of excess pituitary hormone production mainly due to a functional hypersecreting pituitary adenoma

44
Q

What is marasmus?

A
  • Marasmus is a type of protein-energy malnutrition most commonly seen in children < 5
  • Patient is emaciated, muscle wasting, loss of body fat, thin & dry hair, diarrhoea (no oedema)
45
Q

What is Addisonian Crisis?

A
  • Addisonian Crisis is a life threatening emergency due to adrenal insufficiency
  • It is often precipitated by severe stress, salt depravation, infection, trauma or abrupt steroid drug withdrawal
46
Q

What is anaemia?

A
  • Anaemia is defined as a haemoglobin concentration lower than the normal range
  • It is not a diagnosis but a manifestation of an underlying disease state
47
Q

What is Type I Diabetes?

A
  • Type I Diabetes is the absolute lack of insulin secondary to autoimmune destruction of β cells
  • The aetiology not fully understood but the patient is usually young (< 30 years)
48
Q

What is Primary Lactase Deficiency?

A
  • Primary lactase deficiency is a condition occurring due to the absence of lactase persistence allele
  • It only occurs in adults and has its highest prevalence in Northwest Europe
49
Q

What is kwashiorkor?

A
  • Kwashiorkor occurs typically in a young child displaced from breastfeeding and fed with a high carbohydrate, very low protein diet
  • Patient is apathetic, lethargic, anorexic, anaemic, has generalised oedema and low serum albumin

FMCI-Metabolism (LUSUMA) (10 decks)

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