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MEH > Conditions > Flashcards

Conditions Flashcards

1
Q

What is G6PD deficiency?
it can cause RBC to breakdown prematurely
Describe its WHOLE MOA and what effect this will have on cells.

How is it acquired?

A

An x linked recessive conditions where a deficiency in Glucose 6 phosphate dehydrogenase leads to a low number of NAPDH so less oxidised glutathione (GSSG) is able to be reduced to its protective form - GSH (also glutathione). Less GSH means less reduction of reactive oxygen species so cell is more susceptible to oxidative damage.

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2
Q

Name an organ that recycle old/damaged RBCs?

When RBCs that have Heinz bodies on their cell membrane (leading to stiffening of the cell membrane) are being recycled - what cells form?

A

Spleen

Blister cells

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3
Q

In hepatocytes, in paracetamol overdoses, what cells does NAPQI react with and what does this lead to?

A

NAPQI + reduced GSH so hepatocytes has more hydrogen peroxidases, and other ROS, thus get oxidative damage of hepatocytes (DNA, proteins and lipids)

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4
Q

Name a recreational drug that leads to a 20x increase in one of the aminotransferase enzyme.

What specific enzyme is effected?

A

Magic mushrooms.

Alanine aminotransferase, ALT.

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5
Q

What are 2 management methods that treat ammonia toxicity?

A
  1. Low protein diet

2. Replace amino acids (both glucogenic and ketogenic - both get from a protein diet) in diet with keto acids

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6
Q

What symptoms will be found in Phenylketonuria?

3

A

Musty urine smell (due to the build up of Phenylketones)
Hypopigmentation (less tyrosine so less melanin)
Microcephaly

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7
Q

How is Phenylketonuria inherited?

Describe the condition.

A

Autosomal recessive.

Deficiency in Phenylalanine hydroxylase thus get a build up of Phenylalanie in plasma, tissue and urine and less Tyrosine is produced.

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8
Q

What is the treatment for Phenylketonuria?

A

High tyrosine diet

Low Phenylalanine diet (so low intake of meat, dairy, artificial sweeteners)

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9
Q

Describe Homocystinurias.

How is it inherited?

A

Autosomal recessive.

Defect in Cystathionine B-synthase, thus less Methionine and Homocysteine is broken down.

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10
Q

Discuss the link between Coeliac disease and the spleen.

How does this effect your immunity?

A

When you have Coeliac disease you will then have a hyposplenic spleen, this then means that you are at a greater risk of infections by capsulated bacteria.

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11
Q

What is it called when RBC count is low?

A

Erythrocytopenia

Anaemia means low RBC count OR low Hb

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12
Q

What is it called when WBC count is low?

A

Leucopenia

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13
Q

Give 1 physical sign seen in Vitamin B12 deficiency.

A

Glossitis

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14
Q

Give 1 physical sign seen in Thalassaemia.

A

Abnormal facial bone devopment

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15
Q

Give 3 signs in iron deficiency anaemia.

A

Oesophageal webs - found in Plummer vinson syndrome
Angular stomatitis
Koilonychia

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16
Q

Name 5 causes of microcytic anaemia

A

TAILS

(a and b) Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
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17
Q

What MCV category would you class haemolytic anaemias to be?

Name 4 haemolytic anaemias.

A

Normocytic

  1. G6PD deficiency
  2. Sickle cell anaemia
  3. Hereditary spherocytosis
  4. Microangiopathic haemolytic anaemia
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18
Q

Name 4 non-haemolytic anaemias that are normocytic

A

ICAA

Iron deficiency anaemia
CKD
Anaemia of chronic disease
Aplastic anaemia

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19
Q

What are 3 factors that make up Anaemia of chronic disease?

A
  1. Chronic inflammation leads to IL6 being released which increases Hepcidin synthesis in liver. Thus, more Ferroportin, in the duodenum and in RES (macrophage, bone, spleen, liver), is inhibited so less Fe2+ is absorbed (in gut) and released (in RES). This thus inhibits EPO.
  2. Bone marrow is not responding to erythropoietin
  3. RBC lifespan is <120 days
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20
Q

How does chronic kidney disease cause normocytic anaemia?

Explain fully.

Give 2 reasons.

A

Less erythropoietin is released from the kidney so less EPO can go to the bone marrow and produce RBC

Less Hepcidin can be cleared by the kidney thus get reduced gut iron absorption and reduced macrophage iron release

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21
Q

Explain the link between haemolytic anaemia and the spleen

A

Haemolytic anaemia leads to the overworking of the red pulp in the spleen, in order to produce more RBC, thus get splenomegaly.

(With sickle cell anaemia, can have splenomegaly (enlarged spleen) with hyposplenism (reduced spleen function))

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22
Q

What are 3 (other) causes of splenomegaly?

A

Cancer cells growing in spleen

Epstein-Barr Virus

Extramedullary hematopoiesis

Liver cirrhosis- fibrotic liver so liver is unable to expand thus leading to a build up of back pressure into the spleen

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23
Q

Blood transfusions are a form of treatment for Thalassaemia’s and sickle cell anaemias.

What side effect could occur and how can it be treated?

A

Transfusion associated haemosiderosis.

Give Desferrioxamine

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24
Q

What is the type of a Thalassaemia called when there is a deletion of 4 a globin genes?

What type of haemoglobin forms instead and what type of chains make up this haemoglobin.

A

Hydrops fetalis, form Haemoglobin Barts - which is made up of 4 gamma globin chains.

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25
Q

What is it called when there is only a deletion if 1 a globin gene?

A

Silent alpha Thalassaemia carrier

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26
Q

Alpha Thalassaemia:

  1. What is it called when there is a deletion of 3 a globin genes?
  2. Describe and name the type of Hb that forms
  3. What is it called when there is a deletion of 2 a globin genes?
A
  1. Haemoglobin H disease
  2. Haemoglobin H forms - 4 B globin chains
  3. a Thalassaemia trait
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27
Q

Describe how RBCs will look in Haemoglobin H disease (4)

A
  • Heinz bodies
  • Microcytic
  • Hypochromic
  • Target cells
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28
Q

What is B thalassaemia major?

How does this affect the change of Haemoglobin in infants?

A

(6-9 months post birth there is meant to be a change) from foetal Hb, HbF (a2y2), to adult Hb, HbA (a2b2), but do to the lack of/mutation of B globin gene, the B globin gene is not produced so HbA is not produced (at high enough levels)

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29
Q

What is B thalassaemia minor/trait?

A

Have 1 mutated B globin gene (so left with 1 normal B globin gene)

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30
Q

Describe the mutation that occurs in sickle cell anaemia.

A

Point mutation that has Valine at position 6, of the B globin chain, instead of Glutamic acid.

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31
Q

What haemoglobin type is found in sickle cell anaemia?

A

HbS

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32
Q

Why, in normal oxygen levels, is the anaemia symptoms mild in sickle cell anaemia?

A

HbS has a lower affinity to oxygen than HbA

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33
Q

When a person with sickle cell anaemia is in a low oxygen state, what happens to their dexoygenated HbS, and what does this cause?

A

The deoxygenated HbS forms polymers and the RBCs form a sickled shaped

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34
Q

On repeated deoxygenation of RBCs, that have HbS in it, what will eventually happen?

A

The irreversible sickled RBC will ‘stick’ to small blood vessels leading to thrombosis.

35
Q

Myeloproliferative neoplasms are a group of diseases where the bone marrow produces too much RBCs, WBCs or platelets.

Polycythemia vera is a type of myeloproliferative neoplasm. What can cause polycythemia vera?

What clinical features could then occur as a result of PV (4)?

A

JAK 2 mutation leading to increased proliferation of haematopoietic cells - in this case: increase in haematocrit (RBC)

  • Acute myeloid leukaemia
  • Splenomegaly
  • Gout
  • Arterial/Venous thrombosis
36
Q

Give 2 reasons why you get pancytopenia in myelofibrosis.

A
  1. Splenic pooling as a result of splenomegaly

2. Bone marrow fibrosis (decrease in production of RBC, WBC, platelets)

37
Q

Name 4 myeloproliferative neoplasms

A
  1. Chronic myeloid leukaemia (high WCC)
  2. Polycythaemia vera (high haematocrit - RCC)
  3. Essential thrombocythaemia (high platelet)
  4. Myelofibrosis (low RCC, WCC and Platelet)
38
Q

What molecular targeting drug can be used to treat chronic myeloid leukaemia?

And, why?

A

Imatinib is a monoclonal antibody that switches off the tyrosine kinase receptor that has been permanently switched on. Thus, the proliferative drive is no longer there so less leukocytes are produced.

39
Q

Give some clinical effects of having acquired thrombocytopenia

5

A
  1. Easy bleeding
  2. Severe bruising post trauma
  3. Intracranial haemorrhage
  4. Petechiae, purpura
  5. Mucosal bleeding
40
Q

Give 3 causes for acquired thrombocytopenia caused by an increase in thrombocyte destruction

A
  1. AI thrombocytopenic purpura
  2. Heparin induced thrombocytopenia
  3. Splenomegaly leading to splenic pooling
41
Q

Give 5 causes for acquired thrombocytopenia caused by a decrease in thrombocyte production

A
  1. B12 deficiency
  2. Folate deficiency
  3. Acute leukaemia
  4. Aplastic anaemia
  5. Sepsis
  6. Cytotoxic chemotherapy drugs
  7. Liver failure - less thrombopoietin produced
42
Q

What is Felty’s syndrome?

A

Rheumatoid arthritis, splenomegaly and neutropenia

43
Q

Give 2 causes of neutropenia

A
  1. Splenomegaly thus get splenic pooling (so all blood cell counts are low)
  2. Bone marrow failure - Aplastic anaemia
44
Q

Give 4 causes of type 2 diabetes

A

1) high glucagon levels
2) tissue (liver, adipose, skeletal muscle) insensitivity to insulin
3) reduced number of insulin receptors on above tissue types
4) reduced insulin affinity in insulin receptors on above tissue types

45
Q

Describe the pathophysiology behind ketoacidosis in type 1 diabetes (which leads to ketonuria)

A

(absolute/relative) insulin deficiency thus get lipolysis in adipose tissue increases so more fatty acids travel to the liver to produce ketones.

(This occurs in hyperglycaemic phase of type 1 diabetes. If you are hypoglycaemic and a type 1 diabetic, you will go into a coma)

46
Q

What can be a cause of Gigantism in childhood and Acromegaly in adulthood?

Why do they have different names depending on your stage in life?

A

Pituitary adenoma leading to GH excess (and both have very high levels of Insulin like growth factor 1)

The epiphyseal plates have fused in adulthood so it is called Acromegaly as no more limb growth can occur.

47
Q

Once GH has been released from the APG, what are 3 of its actions?

State whether this action has a direct or indirect effect on cells?

A

1) Travels to the liver to stimulate the production of insulin like growth factors (which inhibit the release of GH) - INDIRECT EFFECT ON CELLS
2) Activate signalling pathways - DIRECT EFFECT ON CELLS
3) Activate transcription factors (so more proteins and cells are made - growth) - INDIRECT PATHWAY

48
Q

List some symptoms seen in Cushing’s syndrome

A 
Buffalo hump
Moon face
Round abdomen
Striae
Thin, stretchy skin
Thin, weak bones
Bruising ecchymoses
49
Q

What is Cushing’s disease?

A

A pituitary adenoma that releases Adrenocorticotropic hormone thus leading to arise of Cortisol (from the zona fasciculata of the adrenal cortex) thus leading to Cushing’s syndrome.

50
Q

What is (Adrenal) Cushing’s syndrome?

Describe ACTH levels in this disease.

A

An adrenal tumour that secretes Cortisol thus leading to Cushing’s syndrome.

It also suppresses Adrenocorticotropic hormone levels (due to the negative feedback loop).

51
Q

In a non pregnant woman and a man, if prolactin levels are:

A) >5000 miU/L
B) <5000 miU/L

What could be the possible causes?

(Both levels are extremely high)

A

A) >5000 miU/L: then have a prolactinoma (found in the pituitary gland) that is secreting (extra) prolactin

B) <5000 miU/L: The Stalk Effect: blockage of the pituitary stalk, could be due to a tumour, so dopamine (the same thing as PIH, Prolactin inhibiting hormone) cannot be released from the hypothalamus to act on the prolactin secreting cells in the APG so more prolactin is released.

52
Q

Greasy skin and acne are 2 symptoms of androgenic adrenal tumours (tumours in the adrenal gland that secrete Androgens)

If the tumour is large, name 3 symptoms.

A

Androgenic alopecia

Deep voice

Clitoromegaly

53
Q

A cause of secondary hyperaldosteronism is overactivity of the RAAS system.

What are 2 causes of primary hyperaldosteronism? Discuss what the syndrome is.

A

Conn’s syndrome: aldosterone secreting adrenal adenoma (benign tumour)

Bilateral adrenal hyperplasia

54
Q

What is pituitary apoplexy?

A

Either get haemorrhage of pituitary adenoma (can be benign or cancerous) or infarction of pituitary gland

55
Q

What causes primary adrenal failure (1) and secondary adrenal failure (1)?

A

Primary adrenal failure is caused by Addison’s disease.

Secondary adrenal failure is caused by ACTH deficiency due to hypopituitarism

56
Q

LT Corticosteroid use can lead to hypoadrenalism. Why?

A

Steroids switch off the HPA, Hypothalamus-pituitary-adrenal, axis due to the negative feedback loop so you have ACTH suppression.

57
Q

Name 6 signs and symptoms seen in Addison’s disease.

A
  1. Weight loss
  2. Anorexia
  3. Postural hypotension
  4. Hyperpigmentation
  5. Hypoglycaemia
  6. Lethargy
58
Q

Describe the pathophysiology behind hyperpigmentation, weight loss and anorexia in Addison’s disease.

A

Low cortisol levels leads to a reduction in negative feedback loop to the hypothalamus and anterior pituitary gland. So more POMC, in the primary inhibitory nucleus of the arcuate nucleus in the hypothalamus, is produced so more ACTH and a-MSH is produced. High a-MSH levels leads to increased satiety thus get anorexia and weight loss. High ACTH levels so more ACTH binds to and activates melanocortin receptors on melanocytes so get hyperpigmentation.

59
Q

What are 3 steps to prevent an Addison’s Crisis?

A
  1. Double Hydrocortisone (a glucocorticoid) dose when ill
  2. Double Hydrocortisone dose STAT when you vomit
  3. Keep a steroid card
60
Q

How is Congenital Adrenal Hyperplasia inherited?

Discuss the adrenal hormone levels and discuss how this affects electrolyte levels.

Discuss the effects of androgen.

A

Autosomal recessive.

Aldosterone is low so get (hypotension), hyperkalaemia, hyponatraemia

Cortisol is low so get hypoglycaemia

Androgen, specifically testosterone, levels are high so get clitoromegaly, ambigious genitalia and virilization

(Common to get adrenal crisis)

61
Q

Name a chromaffin cell tumour and what does it secrete at high levels?

A

Phaeochromocytoma secretes catecholamines but noradrenaline>adrenaline.

62
Q

Under-treatment or no treatment of hyperthyroidism can lead to a thyroid crisis, which is an urgent emergency.

Name 5 signs seen in this condition.

A

Hyperpyrexia

Tachycardia

Cardiac failure

Liver dysfunction

Hypertension

63
Q

With hypercalcaemia (>3.0 mmol/L) and hypocalcaemia (<2.1 mmol/L) which one leads to neuronal suppression and neuronal excitability?

Give some signs and symptoms of each. (7 in total)

Discuss the pathophysiology behind neuronal excitability.

A

Hypocalcaemia leads to neuronal excitability as low blood calcium levels leads to an influx of Na+ into neurones thus leading to depolarisation and the increased likelihood of an AP.

Signs and symptoms: tetany, paraesthesia, epilepsy, PARALYSIS

Hypercalcaemia leads to neuronal suppression.

Signs and symptoms: LCC: lethargy, coma, confusion

64
Q

Describe osteomalacia.

What is it called when it occurs in children.

What are 3 characteristics seen?

A

Rickets, in children, is caused when less osteoids are mineralised by vitamin D - due to the deficiency- to osteocytes so have weak painful bones that give you a ‘bow leg’

65
Q

What are 5 signs/symptoms found in hyperthyroidism?

A 
Weight loss
Increased appetite 
Sweating
Lethargy 
Tachycardia
Lid retraction
Goitre
66
Q

What are 5 signs/symptoms of hypothyroidism?

A 
Weight gain
Hoarse voice
Alopecia
Dry skin
Bradycardia
Cold perishes
Slow reflexes
67
Q

State 4 signs/symptoms found in Type 1 Galactosemia - found in babies.

A

Jaundice
Vomiting after feeds
Diarrhoea
Galactose in urine

68
Q

Describe how ketone bodies are formed in Diabetic ketoacidosis(3).

A
  1. Fatty acid lipolysis occurs due to low insulin levels in diabetes
  2. Fatty acid is converted to Acetyl-CoA via B-oxidation
  3. Acetyl-CoA is converted to ketone bodies due to low insulin levels. (If insulin levels were normal then HMG CoA reductase will act on Acetyl-CoA instead and produce cholesterol).
69
Q

Why would you avoid steroid treatment in a person with Antiphospholipd syndrome?

What is Antiphospholipid syndrome?

Describe the pathophysiology of the main anti-phospholipid.

an autoimmune disease

A

Antiphospholipd syndrome is when a person produces antiphospholipid antibodies that attack the phospholipids on the cell membrane.

Anti-Beta2-Glycoprotein 1 are the main anti-phospholipid antibody and they prevent Beta2-Glycoprotein 1 (also called Apolipoprotein H) from binding to phospholipids THUS the process of agglutination is NOT inhibited so MORE platelets can clump together to form blood clots

Due to more blood clots being produced - you avoid giving steroids

70
Q

Antiphospholipid syndrome:

Are men or women more likely to suffer from venous thrombosis?
Give 2 effects of venous thrombosis.

Are men or women more likely to suffer from arterial thrombosis?
Give 3 effects of arterial thrombosis.

A

Women are more likely to suffer from venous thrombosis - can cause a DVT, PE

Men are more likely to suffer from arterial thrombosis - can cause a MI, stroke, limb ischaemia

71
Q

In Fragile X Syndrome (that effects the X chromosome)

What is the minimum amount of CGG repeats that are present (that thus leads to the full mutation of the Fragile X Mental Retardation 1 gene?

A

200 repeats.

(Normal number of repeats is 5-54).

72
Q

What enzyme does the repeat CGG expansions, in Fragile X Syndrome, attract?

Describe its pathophysiology to eventually producing Fragile X Syndrome.

A

Repeat expansion attracts DNA Methylase enzyme which adds methyl groups to the cysteine in the CGG repeats thus the chromatin (in the X chromosome) condenses. Due to the promoter region in the FMR 1 gene being inhibited, less Fragile X Mental Retardation proteins are produced so you get Fragile X Syndrome

73
Q

If a diabetic patient complains of numbness/pain/tingling/burning sensation of their hands/feet, what condition do they have?

A

Diabetic peripheral neuropathy

74
Q

What drug is the first line for Diabetic peripheral neuropathy?

What class does this drug belong to?

Also, what pain relief can be given?

A

Amitriptyline - a tricyclic antidepressant

Buprenorphine patch

75
Q

As a result of long term alcohol dependence, what are two conditions that can develop, as a result of low thiamine levels?

A

Wernicke’s encephalopathy

Korsakoff syndrome (develops if Wernicke’s encephalopathy is not dealt with; irreversible dementia)

76
Q

Name 6 signs and symptoms of Thiamine deficiency.

A

Blurred vision

Nausea/vomiting

Fatigue

Tingling sensations in arms and legs

Muscle weakness

Irritability (agitation, frustration)

77
Q

What is Wernicke’s encephalopathy?

A

Acute neurological condition that consists of: nystagmus, ataxia and confusion. Caused by thiamine deficiency

78
Q

What are some signs of alcohol withdrawal syndrome?

(AWS: occurs in severely alcohol dependent patients that have been drinking for a long time then have an abrupt reduction or abstinence from alcohol)

A

Seizures

Delirium tremens - tachycardia, fever, profuse sweating, agitation, insomnia, nightmares, hallucinations

Death

79
Q

What is Korsakoff syndrome?

A

Chronic memory disorder caused by Vitamin B1 (Thiamine) deficiency

80
Q

What are 3 causes of a white tongue?

A
  1. Oral thrush
  2. GORD (acid reflux) (can also be silent GORD)
  3. Iron deficiency anaemia (heavy periods, lethargy, SOB)
81
Q

How my silent GORD present?

A
  1. White tongue
  2. Throat discomfort
  3. Chest discomfort
  4. Severe: vocal cord changes
82
Q

Describe the pre-operative treatment of the surgical resection of Pheochromocytomas

A

10-14 days before surgery put them on an alpha 1 Blocker - Phenoxybenzamine. Due to alpha 1 blockers causing increased Na+ excretion, from Day 2-3, pt needs to be put on a daily 5g sodium diet (this is a high Na diet).

83
Q

Magnesium deficiency can cause hypokalaemia. In order to sort out the hypokalaemia, you first need to sort out the magnesium.

Name 4 causes of hypokalaemia with alkalosis

Name 4 causes of hypokalaemia with acidosis

A

hypokalaemia with alkalosis:

  • vomiting
  • Conn’s disease (primary hyperaldosteronism)
  • Cushing’s syndrome
  • thiazide and loop diuretics

hypokalaemia with acidosis:

  • diarrhoea
  • renal tubular acidosis
  • Acetazolamide
  • partially treated DKA
84
Q

Describe thyrotoxicosis

A

T4 blood levels will be high and TSH blood levels will be low due to the APG thinking that your body has enough thyroid hormones

MEH (3 decks)

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