Endocrinology conditions Flashcards
1
Q
Define diabetes mellitus type 1
A
Chronic hyperglycaemia due to insulin dysfunction
2
Q
Clinical presentation of diabetes mellitus type 1
A
Usually presents in younger people with a 2-6 week history of polydypsia, polyuria, weight loss, polyphagia etc.
3
Q
Pathophysiology of diabetes mellitus type 1
A
autoimmune destruction of pancreatic beta cells. No insulin secretion = uncontrolled hyperglycaemia (gluconeogenesis, glycogenolysis, lipolysis)
Polyuria = blood glucose exceeds renal tubular reabsorptive capacity leading to osmotic diuresis
Weight loss = due to fluid losses and muscle and fat breakdown
4
Q
Aetiology of diabetes mellitus type 1
A
mutation of HLA/DR3/4
5
Q
Epidemiology of diabetes mellitus type 1
A
typically presents younger <30
6
Q
Diagnostic investigations in diabetes mellitus type 1
A
fasting glucose >7 mmol/L
random plasma glucose >11 mmol/L
7
Q
Treatment for diabetes mellitus type 1
A
glycaemic control through diet and insulin
8
Q
Define diabetes mellitus type 2
A
chronic hyperglycaemia due to insulin resistance
9
Q
Clinical presentations of diabetes mellitus type 2
A
polydypsia, polyuria, weight loss, polyphagia
10
Q
Pathophysiology of diabetes type 2 mellitus
A
polygenic- environmental factors triggers onset in genetically susceptible individuals. Beta cell mass reduced by 50% = low insulin secretion and resistance
11
Q
Aetiology of diabetes type 2 mellitus
A
genetic susceptebility but no HLA link
12
Q
Epidemiology of diabetes mellitus type 2
A
usually older onset >30
overweight
13
Q
Diagnostic tests for diabetes mellitus type 2
A
HbA1c >48 mmol/L
fasting glucose >7 mmol/L
random glucose >11 mmol/L
14
Q
Treatment of diabetes mellitus type 2
A
diet and lifestyle changes
biguanide (metformin)
sulfonylurea (gliclazide)
insulin
15
Q
complications of diabetes mellitus
A
diabetic ketoacidosis
hyperosmolar hyperglycaemic state
neuropathy, nephropathy, retinopathy
16
Q
Define graves disease
A
hyperthyroidism due to pathological stimulation of the TSH receptor
17
Q
clinical presentation of graves disease
A
tachycardia
arrhythmia
diffuse goitre
bulging eyes
lid lag
extra-occular muscle swelling
18
Q
pathophysiology of graves disease
A
thyroid stimulating immunoglobulins recognise and bind to the TSH receptors stimulating T3/4 production. Increased t3/4 causes negative feedback on pituitary = low TSH
19
Q
epidemiology of graves disease
A
most common cause of hyperthyroidism
20
Q
diagnostic tests of graves disease
A
TFTs, high T3/4, low TSH
21
Q
treatment of graves disease
A
antithyroid drugs (Carbimazole)
thyroidectomy
radio-iodine therapy
22
Q
complications of graves disease
A
thyroid storm
treat with propylthiouracil
23
Q
define hashimotos thyroiditis
A
hypothyroidism due to aggressive destruction of thyroid cells
24
Q
clinical presentation of hashimotos thyroiditis
A
thyroid gland may enlarge rapidly
occassionaly with dysponea or dysphagia from pressure on neck
hypothyroidism- fatigue, weight gain, bradycardia, constipation, depression
25
pathophysiology of hashimotos thyroiditis
aggressive destruction of thyroid cells by various cells and antibody mediated immune processes. Antibodies bind and block TSH receptors causing a decrease in thyroid hormone
26
aetiology of hashimotos thyroiditis
unkown- autoimmune
27
epidemiology of hashimotos thyroiditis
12-20 times more common in women
most common cause of hypothyroidism
28
diagnostic investigation of hashimotos thyroiditis
TFTs, low T3/4, high TSH
29
treatment of hashimotos thyroiditis
thyroid hormone replacement (levothyroxine)
30
complications of hashimotos thyroiditis
hyperlipademia, hashimotos encephaly
31
define hypothyroidism
reduced action of thyroid hormone
32
clinical presentation of hypothyroidism
goitre
depression
lethargy
weight gain
constipation
33
define primary hypothyroidism
disease associated with the thyroid itself (usually hashimotos, iodine deficiency etc) Low T3/4 and high TSH
34
define secondary hypothyroidism
disease associated with the pituitary or hypothalamus. Low T3/4 and low TSH. Caused by TSH deficiency, hypopituitarism, hypothalamic disorders.
35
treatment of hypothyroidism
levothyroxine
36
define transient hypothyroidism
disease associated with treatment withdrawal such as radioiodine treatment. Remits on its own
37
types of thyroid cancers
papillary
folicular
anaplastic
lymphoma
medullary
usually require total thyroidectomy, radioactive iodine, radiotherapy + possible lymph node dissection
38
define cushings disease
hypercortisolism
persistently and inappropriately elevated circulating cortisol
39
clinical presentation of cushings disease
obesity
moon face
thin skin
bruising
abdominal striae
hypertension
40
define cushings disease
when increased glucocorticoid is attributed to inappropriate ACTH secretion from the pituitary
41
pathophysiology of cushings
many features due to protein catabolic effects
42
aetiology of cushings
ACTH dependent disease- increased ACTH from pituitary
Non-ACTH dependent- adrenal adenomas/carcinomas, excess glucocorticoid administration
43
epidemiology of cushings
higher incidence in diabetes
2/3rd are cushings disease
44
diagnostic tests for cushings
confirm raised cortisol
dexamethasone supression test
urinary free cortisol 24h
late night salivary cortisol
CT/MRI of pituitary
45
treatment of cushings
remove tumour
cortisol synthesis inhibition (metryapone, ketoconazole)
46
define acromegaly
overgrowth of all organ systems due to excess growth hormone (called gigantism in children)
47
clinical presentation of acromegaly
slow onset
large hands/feet
large tongue
prodtruding jaw
48
pathophysiology of acromegaly
growth hormone acts directly on tissues such as liver, muscles, bones, fat, as well as indirectly through IGF-1
49
aetiology of acromegaly
usually caused by a pituitary tumour
50
diagnostic tests for acromegaly
glucose tolerance test (IGF-1 raised, GH raised)
51
treatment for acromegaly
transphenoidal resection surgery
dopamine agonist (carbergoline)
somatostatin anologues + GH receptor antagonists
52
complications of acromegaly
hypertension
diabetes
bitemporal hemianopia
53
define conns syndrome
primary hyperaldosteronism
high aldosterone levels independent of rennin-angiotensin system
54
clinical presentation of conns syndrome
hypertension
hypokalemia
55
define secondary hyperaldosteronism
hyperaldosteronism due to high renin levels
56
pathophysiology of conns syndrome
aldosterone causes exchange of sodium and potassium in distal renal tubule
Increased aldosterone causes increased reabsorption of sodium + water and increased excretion of potassium
57
aetiology of conns syndrome
adrenal adenoma secreting aldosterone or adrenal hyperplasia
58
diagnostic test for conns sydndrome
plasma aldosterone (high) and renin levels
59
treatment of conns syndrome
adenoma- surgical removal
hyperplasia- aldosterone antagonist (spiranolactone)
60
define adrenal insufficiency
destruction of the adrenal cortex leading to a reduction in adrenal hormones
61
primary adrenal insufficiency
problem with the adrenal gland itself- addisons disease
62
clinical presentation of addisons disease
lehtargy
depression
tanned
tearful
hyperpigmentation
weight loss
63
pathophysiology of addisons disease
autoimmune destruction of adrenal cortex = less cortical products = excess ACTH
excess ACTH stimulates melanocytes causing hyperpigmentation
64
aetiology of addisons disease
organ specific antibodies
TB
65
diagostic test for addisons disease
low sodium
high potassium
cortisol levels
66
treatment of addisons disease
hormone replacement therapy (glucocorticoid= hydrocortisone)
(mineralcorticoid= fludrocortisone to replace aldosterone)
67
secondary adrenal insufficiency
occurs when the pituitary gland doesn't make enough of the hormone ACTH. The adrenal glands then don't make enough cortisol.
68
clinical presentation of secondary adrenal insufficiency
same symptoms as primary adrenal insufficiency but no hyperpigmentation because no excess ACTH to cause melanocyte stimulation
69
aetiology of secondary adrenal insufficiency
hypothalamic/pituitary disease or from long term steroids
70
diagnostic tests for secondary adrenal insufficiency
long ACTH test (synacthen test) to distinguish between primary and secondary adrenal insufficiency (primary = high ACTH, secondary = low ACTH)
71
treatment of secondary adrenal insuffiency
just glucocorticoid replacement (hydrocortisone)
remove steroid use if necessary
72
define adrenal hyperplasia
defective enzymes mediating the production of the adrenal cortex products
73
clinical presentations of adrenal hyperplasia
salt loss
females = unambiguous genitalia
males = no signs at birth, slight hyperpigmentation and possible penile enlargement
74
aetiology of adrenal hyperplasia
defective 21-hydrolase = disruption of cortisol synthesis
usually genetic
75
pathophysiology of adrenal hyperplasia
Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step.
76
diagnostic tests for adrenal hyperplasia
ACTH stimulation test
precursors to cortisol are high but cortisol itself is low
77
treatments for adrenal hyperplasia
glucorticoids (hydrocortisone)
control elctrolytes
NaCl replacement if salt loss
78
define diabetes insipidus (Arginine Vasopressin Deficiency)
an uncommon disorder that causes an imbalance of fluids in the body. This imbalance leads you to produce large amounts of urine. It also makes you very thirsty
79
clinical presentation of diabetes insipidus
polydypsia
polyuria
large volumes of dilute urine
80
define cranial diabetes insipidus
hyposecretion of ADH
disease of the hypothalamus
81
aetiology of cranial diabetes insipidus
surgery, trauma, tumour, genetic
82
treatment of cranial diabetes insipidus
desmopressin (thiazide)
83
define nephrogenic diabetes insipidus
insensitivity to ADH
84
aetiology of diabetes insipdus
kidney damage, hypokalemia, hypercalcaemia, CKD
85
treatment for nephrogenic diabetes insipidus
treat underlying cause
86
diagnostic test of diabetes insipidus
water deprivation test
test urine volume
U&E
MRI
87
define syndrome of inappropriate ADH (SIADH)
continued ADH secretion in spite of plasma hypotonicity and normal plasma volume
88
clinical presentation of SIADH
nausea
irritability
headache
hyponatremia (because too much water retained which dilutes sodium)
89
pathophysiology of SIADH
Increased ADH = increased water reabsorption in the distal nephron, producing a concentrated urine and diluted plasma (dilutes sodium)
90
aetiology of SIADH
disordered hypothalamic-pituitary secretion
ectopic production of ADH
tumour
small cell lung cancer
91
diagnostic test for SIADH
FBC
hyponatremia
92
treatment of SIADH
fluid restriction in asymptomatic patients
IV saline in symptomatic patients
93
define primary hyperparathyroidism
Primary hyperparathyroidism is when there's a problem within the parathyroid gland itself, usually a benign (non-cancerous) tumour of the gland.
94
clinical presentation of hyperparathyroidism
bones, stones, abdominal groans and psychic moans
95
pathophysiology of hyperparathyroidism
parathyroid gland produces too much PTH
96
aetiology of primary hyperparathyroidism
adenoma or hyperplasia
97
diagnostic test for primary hyperparathyroidism
Urine test.
A 24-hour collection of urine can provide information on how well your kidneys work and how much calcium is passed in your urine.
hypercalcaemia
98
treatment for primary hyperparathyroidism
surgical removal of adenoma or bisphosphenates
99
define secondary hyperparathyroidism
result of another condition that lowers the blood calcium. This causes your parathyroid glands to overwork and produce high amounts of parathyroid hormone to maintain or restore the calcium level to the standard range.
100
pathophysiology of secondary hyperparathyroidism
parathyroid gland becomes hyperplastic in response to hypocalcaemia
101
aetiology of secondary hyperparathyroidism
any condition that causes hypocalcaemia)
102
diagnostic test of secondary hyperparathyroidism
low serum calcium
103
treatment for secondary hyperparathyroidism
calcium correction to prevent overcompensation of PTH
104
define tertiary hyperparathyroidism
occurs when an excess of parathyroid hormone (PTH) is secreted by parathyroid glands, usually after longstanding secondary hyperparathyroidism.
105
pathophysiology of tertiary hyperparathyroidism
autonomous secretion of PTH due to CKD. Keep producing PTH even after calcium correction.
106
diagnostic test for tertiary hyperparathyroidism
blood- normal to high calcium
raised PTH
107
aetiology of tertiary hyperparathyroidism
Develops from secondary.
108
treatment of tertiary hyperparathyroidism
calcium mimetic
total or sub-total thyroidectomy
109
define hypoparathyroidism
decreased PTH
110
clinical presentation of hypoparathyroidism
increased excitability of muscles/nerves
numbness around mouth/extremeties
cramps
tetany
chovstek sign
trousseau sign
111
pathophysiology of hypoparathyroidism
decreased PTH = decreased calcium reabsorption in kidneys, intestines etc
112
aetiology of hypoparathyroidism
may be transient
most commonly follows neck surgery
113
diagnostic tests for hypoparathyroidism
calcium and PTH levels low
phosphate high
114
treatment of hypoparathyroidism
IV calcium
vitamin D analogue
115
define hypercalcaemia
high serum calcium
116
clinical presentations of hypercalcaemia
malaise
depression
bone pain
abdominal pain
constipation
short QT interval
117
aetiology of hypercalcaemia
hyperparathyroidism
malignancy
118
diagnostic test for hypercalcaemia
high serum calcium
119
treatment for hypercalcaemia
loop diuretics to return calcium to normal
surgical removal in primary hyperparathyroidism
120
define hypocalcaemia
low calcium
121
clinical presentation of hypocalcaemia
increased excitability of muscles/nerves
numbness around mouth and extremities
cramps
tetany
chovestek sign
trousseau sign
QT prolongation
122
diagnostic test for hypocalcaemia
high serum phosphate
low calcium
low PTH
123
aetiology of hypocalcaemia
CKD usually
vit D deficiency
hypoparathyroidism
124
treatment of hypocalcaemia
IV calium
vit d supplements
125
define hyperkalemia
high potassium
126
clinical presentation of hyperkalemia
few symptoms until it can cause an MI
tall tented t waves
127
pathophysiology of hyperkalemia
renal impairment can cause potassium retention in nephron
128
diagnostic tests for hyperkalemia
ecg
U&Es
129
treatment of hyperkalemia
dietary potassium restriciton + loop diuretic
130
define hypokalemia
low potassium
131
clinical presentation of hypokalemia
usually asymptomatic
maybe muscle weakness
cardiac arrhythmias
t wave inversion
132
aetiology of hypokalemia
usually caused by diuretics, V+D, hyperaldosteronism
133
diagnostic test for hypokalemia
ecg
U&Es
134
treatment with hypokalemia
treat underlying cause
