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•Includes diagrams and flowcharts for
enhanced understanding
Note: These notes are specifically for prof/theory exams. For
complete pathology knowledge, you have to read Robbins!
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Introduction:
Vitamin C deficiency, also known as scurvy, is a nutritional disorder
characterized by inadequate intake or absorption of vitamin C (ascorbic
acid), leading to a range of clinical manifestations affecting various organ
systems.
Ocular Manifestations:
Subconjunctival Hemorrhage:
- Description: Fragility of blood vessels due to impaired collagen synthesis
leads to spontaneous bleeding beneath the conjunctiva.
- Clinical Features: Red or purple discoloration of the whites of the eyes.
Cutaneous Manifestations:
1. Petechiae and Ecchymoses:
- Description: Defective collagen synthesis results in increased capillary
fragility and susceptibility to bleeding into the skin.
- Clinical Features: Pinpoint-sized hemorrhages (petechiae) and larger
purplish patches (ecchymoses) on the skin.
2. Perifollicular Hemorrhage:
- Description: Hemorrhage around hair follicles due to weakened connective
tissue.
- Clinical Features: Hemorrhagic spots and follicular papules, particularly in
areas of friction or pressure.
3. Follicular Hyperkeratosis:
- Description: Abnormal keratinization of hair follicles due to impaired
collagen synthesis.
- Clinical Features: Rough, dry skin with gooseflesh-like bumps, especially on
the thighs and buttocks.
Musculoskeletal Manifestations:
Bone and Joint Pain:
- Description: Defective collagen synthesis affects bone and cartilage
integrity, leading to musculoskeletal pain.
- Clinical Features: Joint pain, swelling, and tenderness, along with bone pain
and weakness.
Dental Manifestations:
Gingival Hypertrophy:
- Description: Impaired collagen synthesis in the gingival tissues results in
gingival overgrowth.
- Clinical Features: Enlargement and bleeding of the gums, along with
loosening of teeth.
Hematological Manifestations:
Anemia:
- Description: Vitamin C deficiency impairs iron absorption and utilization,
contributing to the development of anemia.
- Clinical Features: Fatigue, weakness, and pallor due to reduced
hemoglobin levels.
Wound Healing Defects:
Delayed Wound Healing:
- Description: Vitamin C is essential for collagen synthesis, a critical
component of wound repair.
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- Clinical Features: Prolonged healing of wounds, ulcers, and surgical
incisions.
Neurological Manifestations:
Irritability and Depression:
- Description: Vitamin C deficiency may affect neurotransmitter synthesis
and function, contributing to mood disturbances.
- Clinical Features: Irritability, depression, and cognitive changes.
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Vitamin A deficiency manifestations.
Introduction: Vitamin A deficiency is a nutritional disorder
characterized by inadequate intake or absorption of vitamin A, leading to a
range of clinical manifestations affecting various organ systems.
Ocular Manifestations:
1. Night Blindness:
- Description: Impaired adaptation to darkness due to deficient rhodopsin
synthesis in the retina.
- Clinical Features: Difficulty seeing in low-light conditions, especially at
night.
2. Xerophthalmia:
- Description: Dryness of the conjunctiva and cornea due to decreased tear
production and impaired epithelial integrity.
- Clinical Features: Conjunctival xerosis, Bitot's spots (foamy patches on
conjunctiva), corneal ulceration, and ultimately, corneal scarring
(keratomalacia).
Cutaneous Manifestations:
Hyperkeratosis:
- Description: Thickening of the skin epithelium due to abnormal
keratinization.
- Clinical Features: Dry, rough skin with follicular hyperkeratosis,
particularly on the extensor surfaces and follicular areas.
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Reproductive Manifestations:
Impaired Fertility:
- Description: Vitamin A deficiency can affect reproductive health and
fertility in both males and females.
- Clinical Features: Reduced sperm motility and viability in males; impaired
folliculogenesis and ovulation in females.
Neurological Manifestations:
Cognitive Impairment:
- Description: Vitamin A deficiency during critical periods of brain
development can result in cognitive deficits.
- Clinical Features: Impaired learning and memory, reduced intellectual
capacity, and developmental delays.
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Kwashiorkor and Marasmus
Introduction:
2
Vitamin D Deficiency Manifestations
2
Alcoholism
Introduction:
Alcoholism, also known as alcohol use disorder (AUD), is a chronic, relapsing
condition characterized by excessive and compulsive consumption of
alcoholic beverages, leading to physical and psychological dependence. It is
a significant public health concern worldwide, associated with various
medical, social, and economic consequences.
Epidemiology:
- Prevalence: Alcoholism affects individuals of all ages, genders, and
socioeconomic backgrounds, with higher rates observed in certain
populations, such as men, young adults, and those with a family history of
alcoholism.
- Global Impact: Alcoholism contributes to a substantial burden of disease,
including alcohol-related injuries, liver diseases, cardiovascular disorders,
mental health disorders, and social problems.
Pathophysiology:
- Neurochemical Changes: Chronic alcohol consumption alters
neurotransmitter systems in the brain, including gamma-aminobutyric acid
(GABA), glutamate, dopamine, and serotonin, leading to neuroadaptation
and tolerance.
- Reward Pathway Activation: Alcohol activates the brain’s reward pathway,
reinforcing compulsive drinking behavior and promoting addiction.
- Neurotoxicity: Alcohol-induced neurotoxicity and oxidative stress
contribute to neuronal damage, cognitive impairment, and psychiatric
symptoms associated with alcoholism.
Clinical Manifestations:
- Physical Signs: Manifestations of alcoholism include jaundice,
hepatomegaly, cirrhosis, peripheral neuropathy, pancreatitis,
cardiomyopathy, and gastrointestinal bleeding.
- Psychiatric Symptoms: Patients may experience depression, anxiety, mood
swings, impulsivity, irritability, and cognitive dysfunction.
- Social and Behavioral Problems: Alcoholism is associated with
interpersonal conflicts, legal issues, occupational impairment, financial
problems, and social isolation.
Complications:
- Liver Disease: Chronic alcohol abuse can lead to alcoholic liver disease
(ALD), including fatty liver, alcoholic hepatitis, fibrosis, and cirrhosis.
- Cardiovascular Disorders: Alcoholism increases the risk of hypertension,
cardiomyopathy, arrhythmias, and ischemic heart disease.
- Neurological Disorders: Alcohol-related neurologic disorders include
Wernicke-Korsakoff syndrome, cerebellar degeneration, peripheral
neuropathy, and cognitive impairment.
- Mental Health Disorders: Alcoholism is linked to mood disorders, anxiety
disorders, personality disorders, and an increased risk of suicide.
Treatment:
- Detoxification: Medically supervised detoxification may be necessary to
manage alcohol withdrawal symptoms and prevent complications.
- Rehabilitation: Behavioral therapies, counseling, support groups (e.g.,
Alcoholics Anonymous), and pharmacotherapy (e.g., disulfiram, naltrexone,
acamprosate) are essential components of alcohol addiction treatment.
- Relapse Prevention: Long-term management focuses on relapse prevention
strategies, lifestyle modifications, and ongoing support to maintain sobriety
and promote recovery.
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Obesity
Introduction:
Pathophysiology:
1. Energy Imbalance:
- Caloric Intake: Excessive consumption of energy-dense foods high in fats,
sugars, and refined carbohydrates contributes to calorie surplus.
- Caloric Expenditure: Sedentary lifestyles, decreased physical activity, and
reduced energy expenditure lead to inadequate calorie burning.
Clinical Features:
1. Body Mass Index (BMI):
- Definition: BMI is calculated as weight in kilograms divided by height in
meters squared (kg/m^2).
- Classification: Obesity is categorized based on BMI values:
- Overweight: BMI 25.0–29.9 kg/m^2
- Obesity Class I: BMI 30.0–34.9 kg/m^2
- Obesity Class II: BMI 35.0–39.9 kg/m^2
- Obesity Class III (Severe Obesity): BMI ≥40.0 kg/m^2
2. Central Obesity:
- Waist Circumference: Measurement of abdominal circumference provides
an indicator of central adiposity and visceral fat accumulation.
- Increased Risk: Waist circumference >102 cm (men) or >88 cm (women) is
associated with increased risk of metabolic complications.
Complications:
1. Metabolic Syndrome:
- Definition: Cluster of metabolic abnormalities including central obesity,
insulin resistance, dyslipidemia, and hypertension.
- Consequences: Increased risk of type 2 diabetes, cardiovascular disease,
and non-alcoholic fatty liver disease (NAFLD).
2. Cardiovascular Diseases:
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- Atherosclerosis: Obesity promotes atherosclerotic plaque formation,
leading to coronary artery disease, stroke, and peripheral vascular disease.
- Hypertension: Excess adiposity contributes to elevated blood pressure
levels and hypertension.
Management:
1. Lifestyle Modifications:
- Dietary Changes: Adoption of a balanced, calorie-controlled diet rich in
fruits, vegetables, whole grains, and lean proteins.
- Physical Activity: Regular exercise and physical activity to promote calorie
expenditure and weight loss.
2. Pharmacotherapy:
- Weight Loss Medications: Pharmacological agents such as orlistat,
phentermine/topiramate, and liraglutide may be prescribed for individuals
with obesity and comorbidities.
3. Bariatric Surgery:
- Indications: Considered for individuals with severe obesity (BMI ≥40
kg/m^2) or BMI ≥35 kg/m^2 with significant comorbidities.
- Types: Bariatric procedures include gastric bypass, sleeve gastrectomy, and
adjustable gastric banding.