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Heme/Genetics > Clin Med - Clin Genetics > Flashcards

Clin Med - Clin Genetics Flashcards

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Biology 101 flashcards
1
Q

What are the types of genetic diseases?

A
  1. Mendelian disorders (inherited)
  2. Chromosomal disorders (not inherited)
  3. Multi-factorial diseases and genetic susceptibility
  4. Hereditary cancer syndromes
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2
Q

Mendelian Disorders

A
  • Classical or “simple” genetics
  • Follows Gregor Mendel’s laws of inheritance
  • Single gene mutation
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3
Q

Achondroplasia

A

Most common cause of disproportionate short stature (1/27,000 prevalence at birth)

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4
Q

What is the inheritance pattern of achondroplasia?

A

Autosomal dominant inheritance (50% risk to offspring)

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5
Q

What is affected by achondroplasia?

A

Increased inhibition of cartilage cell growth, leads to shortening of limbs

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6
Q

What is Alpha-1 Antitrypsin?

A
  • Serine protease inhibitor

- Protects connective tissue of lungs from elastase released by leukocytes

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7
Q

Alpha-1 Antitrypsin Deficiency

A

Predisposition to emphysema and cirrhosis

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8
Q

Alpha-1 Antitrypsin Deficiency Inheritance pattern

A

Autosomal Recessive Inheritance

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9
Q

Autosomal Dominant Polycystic Kidney Disease can cause…

A
  1. Age-dependent cysts (kidney, liver, pancreas, spleen)
  2. Cardiovascular abnormalities (HT, MVP, brain aneurysms, LVH)
  3. Connective tissue abnormalities (hernia, diverticuli)
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10
Q

Autosomal dominant polycystic kidney disease affects which group of people?

A

All ethnic groups.

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11
Q

Charcot-Marie-Tooth Disease

A
  • Group of hereditary motor and sensory neuropathies

- Most common inherited neuromuscular disorder (1/2500 prevalence)

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12
Q

Charcot-Marie-Tooth Disease inheritance pattern

A

Autosomal dominant or recessive

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13
Q

Charcot-Marie-Tooth Disease Clinical Presentation

A

Presents between 5-15 yoa, typically with
foot drop
-very slow progression

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14
Q

Cystic Fibrosis

A

Most common life-limiting AUTOSOMAL RECESSIVE disorder in Caucasians (1/3300 births)

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15
Q

Cystic Fibrosis Characteristics

A
  • Presents with symptoms in childhood

- Causes obstructive lung disease

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16
Q

Chronic Sinopulmonary features of CF

A
  • Chronic cough
  • Copious thick sputum
  • Persistent colonization with bacteria
  • Airway Obstruction
  • Nasal polyps
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17
Q

Male urogenital abnormalities with CF

A

absence of vas deferens - infertility

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18
Q

GI abnormalities with CF

A
  • Meconium ileus
  • Rectal prolapse
  • Intestinal Obstruction
  • Failure to thrive
  • Pancreatic insufficiency - steatorrhea
  • Pancreatitis
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19
Q

Salt Loss Syndrome with CF

A
  • Acute salt depletion

- Chronic Metabolic Acidosis

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20
Q

CF Diagnosis Requires 1 Criterion From Each Group

A

Group 1

  • One or More Clinical Features
  • Sibling with CF
  • Positive Neonatal IRT (immunoreactive trypsinogen test)
Group 2
-Abnormal SWEAT CHLORIDE >60mM 
on two occasions
-Identification of two CFTR mutations
-Abnormal NASAL POTENTIAL DIFFERENCE
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21
Q

CF Treatment - Medications

A
  • Anti-inflammatory medications
  • Bronchodilators
  • Nebulized hypertonic saline
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22
Q

CF Treatment - Supplements

A
  • Pancreatic enzymes

- Vitamin D and calcium

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23
Q

CF Treatment - Physical Therapy

A
  • Chest Physiotherapy

- Mechanical Vest

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24
Q

CF Treatment - Preventative

A
  • Prophylactic antibiotics

- Vaccinations

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25
Q

CF Complications

A
  • Pneumonia
  • Pneumothorax
  • Infertility
  • Meconium ileus or distal intestinal obstructive syndrome
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26
Q

CF Prognosis

A

Median survival 40yrs

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27
Q

Duchenne Muscular Dystrophy inheritance pattern

A

X-linked recessive

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28
Q

Duchenne MD Characteristics

A
  • Loss of ambulation between 7-13 years of age, wheelchair

- Mutation on DMD gene on Xp21 –> defective dystrophin protein = loss of proteins in muscle cell membranes

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29
Q

Duchenne MD Clinical Features

A
  • Delay of motor milestones
  • Gait disturbance and calf hypertrophy
  • Proximal Limb Weakness:
  • -Difficulty rising from floor or climbing stairs
  • -Gower’s Maneuver: child will push up on his thighs with his hands to get up off the floor
  • -Unable to jump with both feet together
  • Speech delay, 30% have learning disability
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30
Q

MD Diagnosis

A
  • Elevated creatinine phosphokinase (CPK) >10x normal (Essentially a screening, then test further)
  • DNA testing for mutation
  • Muscle biopsy – helpful if genetic tests are negative, provides prognostic info
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31
Q

MD Life Expectancy

A

Common until the 30s now.

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32
Q

MD Treatment

A
  • Refer for genetic counseling
  • Gene therapy in the future, hopefully
  • Corticosteroid Therapy
  • Assistive Devices for mobility
  • Treat/prevent contractures
  • Bracing or surgery for scoliosis
  • Physical therapy
  • Ventilation support
  • Monitor for cardiomyopathy
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33
Q

Ehlers-Danlos Syndrome (EDS) is a mutation of…

A

defective proteins, collagens

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34
Q

EDS inheritance pattern

A

Usually autosomal dominant (some are AR)

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35
Q

EDS types (3)

A

SKIN: skin fragility, abnormal scarring, elasticity
JOINTS: musculoskeletal discomfort, susceptibility to OA, hypermobility
VESSELS: fragility, prone to arterial rupture, easy bruising, higher mortality

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36
Q

Which EDS type is the most common?

A

Hypermobility

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37
Q

Which EDS type is rare, but the most serious?

A

Vascular

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38
Q

EDS clinical features (many)

A
  • Hypermobile joints, High Beighton Score
  • Pes planus, genu valgum, scoliosis
  • History of dislocations??
  • Soft, velvety skin that is highly elastic and fragile
  • Easy bruising
  • ‘Cigarette paper’ scars, abnormally wide/thin surgical scars
  • Early onset arthritis
  • Floppy mitral valve - causes heart murmur
  • Recurrent or multiple abdominal hernias
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39
Q

EDS Monitoring

A

During pregnancy, high risk for:

  • preterm delivery
  • hemorrhage
  • wound complications
  • uterine rupture
  • Monitor all for aortic dilation
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40
Q

EDS Preventative Measures

A
  • Avoid trauma and contact sports, avoid high impact exercise
  • Maintain healthy weight
  • Refer for genetic counseling!
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41
Q

Hereditary Hemochromatosis inheritance pattern

A

Autosomal Recessive disorder of iron absorption

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42
Q

What population is affected by hereditary hemochromatosis?

A

1% of Irish

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43
Q

What causes hereditary hemochromatosis?

A

dysfunction of HFE protein –> decreases HEPCIDIN production, so hepcidin can’t down regulate absorption

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44
Q

Why does hereditary hemochromatosis cause iron overload?

A

Excessive intestinal absorption + limited means to excrete = iron overload

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45
Q

Why does hereditary hemochromatosis present in early adulthood?

A

Progressive iron overload will take years to present clinically.

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46
Q

Hereditary hemochromatosis clinical features

A
  • Bronzed skin pigmentation
  • Erectile dysfunction, decreased libido
  • Diabetes
  • Fatigue, weakness
  • Joint pain/Hand arthritis
  • Elevated LFTs
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47
Q

Hereditary hemochromatosis diagnosis

A

-LABS: Elevated serum ferritin (>200 women, >250 men), elevated serum iron, elevated transferrin saturation
-Genetic testing for mutations
+/- Liver Biopsy (for prognosis)

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48
Q

Hereditary hemochromatosis treatment

A
  • Serial Phlebotomy weekly or biweekly (Maintain ferritin between 50-100ng/mL)
  • Limit alcohol consumption
  • If cirrhosis present, screen for HCC with ultrasound every 6 months
  • Refer to hematologist and gastroenterologist, possible genetic counseling
49
Q

Huntington Disease

A

Progressive neurodegenerative disorder

50
Q

Huntington disease inheritance pattern

A

Autosomal dominant

51
Q

Huntington disease Triad

A 
1. Involuntary movements:
Chorea = irregular migrating contractions
Athetosis = twisting, writhing 
2. Psychiatric disturbance
3. Dementia
52
Q

Huntington disease age of onset

A

35-40 yoa

*Death within 15 years of symptom onset

53
Q

Huntington disease clinical features (movements)

A

Abnormal Movements:

  • Facial grimacing
  • Chorea, jerks, pseudo-tics
  • Puppet-like gait
  • Motor impersistence = Inability to sustain a motor act e.g. protruding the tongue or grasping
  • Oculomotor apraxia = Inability to intentionally move the eyes quickly w/o blinking or head thrusting
  • Swallowing impairment
54
Q

Huntington disease clinical features (psych)

A
  • Personality change
  • Poor self-control, irritability
  • Depression
  • Socially withdrawn
  • Cognitive impairment
  • Dementia
55
Q

Huntington Disease Diagnosis

A

Family history, exam, confirm with genetic testing, consider neuroimaging

56
Q

Huntington Disease Management

A
  • Refer for genetic counseling
  • Refer family to support group
  • Support, end of life care discussion
  • Anti-psychotics to suppress chorea, agitation
  • Institutionalization
57
Q

Long QT Syndrome

A
  • Prolonged ventricular repolarization
  • predisposes to arrhythmias
  • syncope
58
Q

Long QT Syndrome Inheritance Pattern

A

Autosomal dominant

59
Q

What is mutated in long QT syndrome?

A

genes that code for potassium or sodium channels

60
Q

Long QT Syndrome Clinical Features

A
  • Onset pre-teen or teenage years
  • Sx: syncope during physical activity or emotional upset, WITHOUT warning
  • Triggers can be gene specific:
  • -Running, swimming (LQT1)
  • -Startle (LQT2)
  • -Anger, crying, stress
61
Q

Long QT Syndrome Diagnosis

A

History, family history (fainting, “epilepsy”, sudden death), EKG, genetic testing

62
Q

Long QT Syndrome Treatment

A
  • Lifestyle Modification: approach intense physical activity, roller coasters, scary movies with caution
  • Avoid drugs that cause QT prolongation
  • Beta-blockers
  • Implanted defibrillator
  • Refer to cardiologist and genetic counselor
63
Q

Marfan Syndrome mutations cause

A

Disorder of connective tissue

64
Q

What is the main cause of morbidity/mortality in Marfan syndrome?

A

Cardio complications

65
Q

Marfan Syndrome inheritance pattern

A

Autosomal dominant

66
Q

Cardio clinical features of Marfan Syndrome

A
  • Aortic root dilation, dissection, aneurysm

- Mitral valve disease

67
Q

Musculoskeletal clinical features of Marfan Syndrome

A
  • Arachnodactyly
  • Arm span > height
  • Scoliosis, chest wall deformity,
  • Joint hypermobility, Joint dislocation
68
Q

Pulmonary clinical features of Marfan Syndrome

A

Recurrent spontaneous pneumothorax

Cystic lung disease

69
Q

Ocular clinical features of Marfan Syndrome

A
  • Dislocation of ocular lens
  • Myopia, visual acuity problems
  • Retinal detachment
70
Q

Skin clinical features of Marfan Syndrome

A
  • Abnormal scarring
  • Hyperextensibility
  • Recurrent hernias
  • Skin translucency, striae
71
Q

Mouth clinical features of Marfan Syndrome

A
  • Dental Crowding

- High arched palate

72
Q

What 2 signs are used for evaluation of Marfan Syndrome?

A
  1. Steinberg sign - fold thumb into closed fist. The test is positive if thumb tip extends from palm.
  2. Walker-Murdoch sign - grip your wrist with opposite hand, if thumb and pinky overlap the test is positive.
73
Q

Marfan Syndrome Diagnosis

A
  • Family history
  • Physical exam findings, measurement, Breighton score increased
  • Genetic testing
  • Echocardiogram
  • Slit-lamp examination of eyes
  • X-rays
  • MRI of L-spine

Diagnosis can be uncertain in partial cases

74
Q

Treatment/Management of Marfan Syndrome

A
  • Focused on prevention of complications
  • Beta-blockers
  • Elective aortic repair, valve repair
  • Treat scoliosis
  • Pleurodesis prn
  • Eye surgery prn
  • Annual echocardiogram
  • Referral to cardiology and ophthalmologist
  • Genetic counseling
  • Avoidance of contact sports
75
Q

Neurofibromatosis (Type 1)

A

AKA “von Recklinghausen disease”

76
Q

What causes neurofibromatosis type 1?

A

Defective protein neurofibromin

77
Q

Cardinal features of Neurofibromatosis type 1

A

Café-au-lait spots
Neurofibromata
Lisch nodule in the iris

78
Q

Clinical features of Neurofibromatosis type 1

A

SKIN: Café-au-lait spots, freckling, lumps/bumps, tumors appear late childhood
NEURO: seizures, learning difficulties, neuromotor problems, aneurysms
BONE: scoliosis, bone cysts, thinning of long bone cortex –> tibial bowing
EYES: optic gliomas, Lisch nodule (iris hamartomas), absence of greater wing of sphenoid bone –> pulsating exophthalmos

79
Q

Neurofibromatosis type 1 treatment/management

A
  • No specific treatment available
  • Surgery to correct deformity
  • Irradiation of tumors
  • Optic gliomas/CNS lesions treated with radiation or chemotherapy
  • Refer for genetic counseling
80
Q

Osteogenesis Imperfecta is commonly called

A

“brittle bone disease”

81
Q

Osteogenesis imperfecta inheritance

A

autosomal dominant or recessive

82
Q

What is mutated in osteogenesis imperfecta?

A

defective protein procollagen (component of bone, ligaments, and tendons) –> defective collagen

83
Q

Osteogenesis imperfecta clinical features

A
  • Diagnosed at birth
  • Weakened bones
  • Shortened height and stature
  • Blue sclera
  • Hearing loss
  • Joint hypermobility and flat feet
  • Poor dental development
84
Q

Which type of osteogenesis imperfecta is lethal?

A

“type II is gonna kill your ass at birth”

85
Q

What is the most mild form of osteogenesis imperfecta?

A

type I - blue sclera, hypermobility, +/- fractures

86
Q

Severity of 4 types of osteogenesis imperfecta

A

Type I- mild, no deformity
Type II- perinatal lethal
Type III- severely deforming
Type IV- moderately deforming

87
Q

Diagnosis of osteogenesis imperfecta

A
  • Suspect in children with recurrent fractures or blue sclera
  • Abuse should be in differential
  • Genetic testing
  • Lab analysis of type 1 procollagen from skin biopsy
  • Chorionic villus sampling
  • Prenatal ultrasound can detect severe forms
88
Q

Osteogenesis imperfecta treatment

A
  • Growth hormone
  • Bisphosphonates (same as osteoporosis treatment)
  • Physical Therapy, Occupational Therapy
  • Bracing, assistive devices
  • Referral to orthopedic surgeon
  • Cochlear implant for hearing loss prn
  • Refer to genetic counseling
89
Q

Retinitis Pigmentosa is

A

Slowly progressive degeneration of the retina

*Most common inherited retinal dystrophy

90
Q

Retinitis Pigmentosa inheritance pattern

A

can be AD, AR, or XLR

91
Q

Mutation causing retinitis pigmentosa

A

Leads to defective retinal proteins

92
Q

Retinitis Pigmentosa clinical features

A
  • Impaired night vision (early), eventually lost
  • Progressive loss of visual field
  • Loss of central vision (later)
  • Myopia
  • Family history of RP or adult onset blindness
  • Abnormal fundoscopic exam
  • -Hyperpigmentation of retina
  • -Narrowing of retinal arterioles
  • -Macular edema
  • -Waxy yellow appearance of disk
93
Q

Retinitis Pigmentosa treatment/management

A
  • No way to reverse damage
  • Refer to ophthalmologist
  • Refer for genetic counseling
  • Supplements that slow progression:
  • -Vitamin A palmitate
  • -Omega-3 fatty acids
  • -Lutein plus zeaxanthin
  • FUTURE: Intraocular computer chip implants (Cyborg???)
94
Q

Non-Mendelian Genetic Syndromes are due to…

A

chromosomal disorders in egg or sperm, present prior to fertilization

95
Q

What is the most common cause of intellectual disability?

A

Chromosomal disorders

96
Q

Common chromosomal syndromes (3)

A

Trisomy 21 or Down Syndrome
Trisomy 18 or Evans Syndrome
Monosomy X or Turner Syndrome

97
Q

What tests are done to evaluate chromosomal disorders?

A
  • Karyotyping
  • Microarray
  • FISH (fluorescence in situ hybridization)
98
Q

Define polygenic

A

Cumulative affect from several genetic loci

99
Q

Multi-Factorial Disorders/Complex Inheritance

A

GENETIC SUSCEPTIBILITY + ENVIRONMENTAL FACTORS/LIFESTYLE

100
Q

What are the 2 types of complex characters?

A
  1. Continuous Characters = we ALL have them, but differing degree (height, weight, BP, behavior)
  2. Discontinuous Characters = some people have them, but most do NOT, family clusters
    (cleft palate, congenital heart disease, hip dysplasia, neural tube defects, schizophrenia, type 1 diabetes
101
Q

Hallmarks of complex disease

A
  1. Clustering of disease in multiple family members
  2. NO predictable inheritance pattern
  3. Later age at onset of disease
  4. Variable expression –> difficult to predict who will develop symptoms, which symptoms, and severity of symptoms
102
Q

List the multifactorial diseases

A 
Diabetes
Polygenic Hyperlipidemia
Monogenic Lipoprotein Disorders
-Familial Hypercholesterolemia
-Familial Defective apoB-100
-Autosomal Recessive Hypercholesterolemia
Hypertrigliceridemia
103
Q

Characteristics of type 2 diabetes

A

> 60 genes are associated with an increased risk of Type 2 Diabetes
40-60% heritability, most polygenic
- Rare monogenic forms
- Twin studies: 60% higher rate of diabetes if monozygotic twin has it
- Environmental factors: obesity, sedentary lifestyle

104
Q

Polygenic Hyperlipidemia

A
  • May present with premature symptomatic atherosclerotic disease
  • Often a family history of high cholesterol and/or premature CV disease
  • Look for xanthomas
105
Q

Familial Hypercholesterolemia inheritance pattern

A

Autosomal dominant

106
Q

Familial Hypercholesterolemia characteristics

A
  • Onset at birth
  • can have MI at 35-40 due to strikingly elevated LDL-C
  • xanthomata
107
Q

Familial Defective apoB-100

A
  • defective LDL receptor leads to poor binding –> diminished clearance of LDL
  • less xanthomata than familial hypercholesterolemia
108
Q

Familial Defective apoB-100 inheritance pattern

A

autosomal dominant

109
Q

Autosomal Recessive Hypercholesterolemia

A
  • Mutation of the ARH gene that encodes for protein involved with LDLR
  • Later onset of CAD
110
Q

Hypertriglyceridemia Characteristics

A

-Multiple gene loci + environmental factors (alcohol, obesity, etc)
-Usually a family history of high triglycerides
Types of primary hypertriglyceridemia, familial hypertriglyceridemia, familial combined hypertriglyceridemia, LPL deficiency, apolipoprotein C-II
-Secondary causes: diabetes, alcohol, obesity, hypothyroidism, medications

111
Q

Hypertriglyceridemia clinical features

A

xanthoma
lipemia retinalis
pancreatitis

112
Q

List the Hereditary Cancer Syndromes (3)

A
  1. Hereditary Breast and Ovarian Cancer Syndrome (BRCA 1 and BRCA 2)
  2. Familial Adenomatous Polyposis
  3. Multiple Endocrine Neoplasia
113
Q

Genetic testing for hereditary cancer syndromes - who?

A
  • Cancer at young age (<40-50)
  • Multiple cancers in single individual
  • Bilateral cancer in paired organs (kidney, breast)
  • Multiple relatives with same cancer
  • Unusual cases of specific cancer type (breast CA in man)
  • Congenital anomalies or precursor lesions associated with cancer syndromes
  • Certain racial/ethnic groups
114
Q

Genetic testing for hereditary cancer syndromes - what?

A

Looks for mutations in chromosomes, genes, or proteins
CANCER: check for mutation, confirm if inherited
NO CANCER: family history, check for mutation to assess risk

115
Q

Genetic testing for hereditary cancer syndromes - how?

A
  • Blood, saliva, cells from cheek swab, skin cells, amniotic fluid
  • Tumor cells
  • Ordered by medical provider or genetic counselor
116
Q

Identify patients at risk for genetic disease

A
  • advanced maternal age >35
  • consanguinity
  • previous h/o a child with birth defects or genetic disorder
  • personal or fam hx suggestive of genetic disorder
  • high-risk ethnic groups
  • documented genetic alteration in a family member
  • ultrasound or prenatal testing suggestive a genetic disorder
117
Q

What is the purpose of genetic screening?

A

determine the risk of a group of patients who belongs to a certain age group or ethnic group, population-based, large number of people screened

118
Q

What is the purpose of genetic testing?

A
  • determines status of a specific individual, performed on patients already at high risk for a disease/condition due to a positive screen or family history or ethnic background
  • tests for a specific disease-causing gene

Heme/Genetics (15 decks)

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