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Endocrine > Type 1 diabetes - clinical features and pathophysiology > Flashcards

Type 1 diabetes - clinical features and pathophysiology Flashcards

1
Q

What is the definition of type 1 diabetes?

A

A state of absolute insulin deficiency
In all probability caused by an environmental triger in a genetically susceptible individual mediated for the most part by an auto-immune process of varying degree of severity occuring within the pancreatic beta cell

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2
Q

What is the diagnostic critera for type 1 diabetes?

A

Fasting glucose > 7.0 mmol/l
Random >11.1 mmol/l
Symptoms of hyperglycaemia or repeat test

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3
Q

What autoantibodies can be present in T1DM?

A

GAD
IA2
IAA
ZnT8

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4
Q

What is the risk of developing T1DM if both parents have it?

A

30%

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5
Q

What is the risk of developing T1DM if the father has it?

A

8%

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6
Q

What is the risk of developing T1DM if the mother has it?

A

3%

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7
Q

What HLA genes are associated with T1DM?

A

DR3-DQ2

DR4-DQ8

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8
Q

What environmental factors can trigger T1DM?

A 
Observations - seasonality
Timing of birth
Viral infection
Maternal factors
Weight gain
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9
Q

If you have GAD antibodies what is the risk of having T1DM?

A

70-80%

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10
Q

If you have IA2 antibodies what is the risk of having T1DM?

A

60-70%

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11
Q

What maternal factors can increase the risk of developing T1DM?

A 
Infection 
Age
ABO mismatch 
Birth order
Stress
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12
Q

What are common autoimmune trigger factors for developing T1DM?

A

Viral infection
Vitamin D deficiency
Dietary factors
Environmental toxins

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13
Q

What disease markers are present in the autoimmune process?

A

Autoantibodies (GAD, IAA, IA2, ZnT8)
Candidate antigens
Insulitis

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14
Q

What clinical features are present in clinical diabetes?

A 
Hyperglycaemia
Ketones
Decreased insulin
Decreased beta cell mass
Decreased C-peptide
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15
Q

What are risk factors for clinical diabetes?

A 
Infection
Insulin resistance
Puberty
Diet/ weight
Stress
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16
Q

What are the typical presenting symptoms of T1DM?

A 
Polyuria
Polydipsia
Weight loss
Fatigue and somnolence
Blurred vision
Candidal infection - pruritus vulvae, balantitis
Keto-acidosis
17
Q

What is included in the management of a newly diagnosed patient with T1DM?

A 
Blood glucose and ketone monitoring 
Insulin: basal and bolus
Carbohydrate estimation 
Regular DSN and dietitican contact
Appropriate medical clinical review 
Regular HbA1c (48-58 mmol/mol)
18
Q

What should be included in an annual review assessment?

A 
Weight
BP
Bloods: HbA1c, renal function, lipids) 
Retinal screening
Foot risk assessment
19
Q

What are the different type of diabetes included within T1DM?

A

NND
MODY
LADA
Secondary diabetes

20
Q

What is normal insulin secretion?

A

Biphasic secretion in response to meal - rapid phase of pre-formed insulin that lasts for 5-10 mins
Slow phase over 1/2 hours

21
Q

Where does insulin go after it is released from the pancreas?

A

Portal vein

22
Q

What is neonatal diabetes?

A

Children diagnosed under the age of 6 months are much more likely to have monogenic rather than T1DM

23
Q

What is LADA?

A

A diagnosis of LADA is established by the presence of elevated levels of pancreatic auto-antibodies in patients with recently diagnosed diabetes who do not initially require insulin

24
Q

When should LADA be suspected?

A 
Occurs in YA 25-40 
Male preponderance
Non-obese 
Auto-antibody positive 
Associated auto-immune conditions
Non-insulin requiring at diagnosis 
Sub-optimal control on oral agents
25
Q

How many people with CF will develop diabetes?

A

More than 25% at 20 years

Screening with OGTT from age 10 years recommended

26
Q

What is wolfram syndorme?

A 
Diabetes insipidus
Diabetes mellitus
Optic atrophy
Deafness
Neurological anomalies
27
Q

What is bardert-bidel syndrome?

A 
Often very obsese
Polydactylyl
Hypogonnadal
Visual imparement
Hearing impairemen
MEntal retardation
Diabetes
Consanguineous paretns
28
Q

What will the history of LADA look like?

A

Longer/variable
Ketones 0/+/++
Abs POS
Insulin delayed

29
Q

What will the history of MODY look like?

A

Variable
Ketones 0/+
Abs NEG
Inheritance

30
Q

What will the history of T2DM look like?

A

Log/ mild
Ketones -
AbsNEG
Overweight

31
Q

What are relatively common related auto-immune conditions?

A 
Thyroid disease 
Coeliac disease
Pernicious anaemia
Addison's disease
IgA deficiency
32
Q

What are the rare associated auto-immune conditions with T1DM?

A

Auto-immune polyglandular syndrome (Type 1 and 2)
AIRE mutations
IPEX syndrome

33
Q

What is type 2 polyglandular syndrome?

A 
T1DM
Addison's disease 
Vitiligo
Primary hypogonadism
Primary hypothyrodism
Coeliac disease
34
Q

What is type 1 polyglandular syndrome?

A

T1DM
Mild immune deficiency (muco-cutaneous candidiasis)
Primary hypoparathyrodism/ pernicious anaemia/ alopecia

Endocrine (35 decks)

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