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Clinical Conditions Flashcards

1
Q

Rhabdomyolysis

A

Huge breakdown of skeletal muscle leads to release of lots of myoglobin
Plugs renal tubules and causes renal failure

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2
Q

a1 Antitrypsin deficiency

A

Autosomal recessive
Lack of antitrypsin molecule -> excess trypsin activation
Increased level of elastase release by neutrophils in areas of inflammation -> excessive breakdown of elastin (destroys alveoli -> emphysema)

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3
Q

Hereditary haemochromotosis

A

Deficiency of hepcidin (iron storage protein)
Fe2+ deposited all over body
Damages pancreas (bronze diabetes) and heart
Bleed to treat

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4
Q

Coal worker’s pneumoconiosis

A

Microscopic coal dust retained in alveoli and taken up by macrophages
System eventually overwhelmed, immune response causes pulmonary fibrosis - damaging lungs
Reduced air entry -> persistent cough, breathlessness, fainting etc.

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5
Q

Acute alcoholic hepatitis

A 
Result of series binge drinking 
Toxins badly damage liver 
Formation Mallory's hyaline 
Fever, jaundice and tenderness 
Usually reversible
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6
Q

Cirrhosis

A 
10/15% of alcoholics 
Irreversible severe damage to liver 
Shows as micronodules of hepatocytes surrounded by collagen bands 
Jaundice, fever, sickness
Often fatal
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7
Q

Lobar pneumonia

A

Streptococcus pneumonae
Acute inflammation causes exudate to accumulate in alveoli -> loss of respiratory function
1) Congestion - vascular engorgement, some clear exudate deposition into alveoli
2) Red hepatisation - RBCs leak into exudate, large fibrin deposits formed
3) Grey hepatisation - RBCs have disintegrated -> exudate containing neutrophils and other WBCs remain, thus grey colour
4) Resolution - exudate drained through lymphatics and coughed up

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8
Q

Acute appendicitis

A

Fecaloma (calcified faeces) block part of the appendix
Causes inflammation, bacteria colonise, stays as abscess until wall of appendix ruptures
Can lead to peritonitis and systemic shock

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9
Q

Bacterial meningitis

A 
Acute inflammation of the meninges of the brain -> rise in intracranial pressure -> blood vessels supplying brain occluded -> brain damage, coning and death 
Causes.. 
Neonates - Strep. B 
Children - Neisseria meningitides 
Adults - Enterovirus 
Elderly - Strep. pneumonae
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10
Q

Ascending cholangitis and hepatic abscesses

A

Gallstone blocks bile duct, bacteria colonise, cause infection, spread to liver, contained as hepatic abscess
Results in jaundice and steatorrhea (lack of bile emulsifying fat)
LFT shows high AST/ALT (hepatocyte lysis has occurred)

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11
Q

Hereditary angio-oedema

A 
Autosomal dominant 
Mutation of C1 esterase inhibitor 
Immune system runs out of control 
Huge generalised oedema throughout body
When airways affected - unable to breathe -> death
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12
Q

Chronic granulomatous disease

A

Neutrophils unable to form O2 radicals (superoxide) to eliminate phagocytosed pathogens, instead take them up by phagocytosis and they stay there
Leads to many chronic infections as huge number of granulomas are formed

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13
Q

Tuberculosis

A

Chronic infection of lungs - mycobacterium tuberculosis
Bacterium spread by droplet infection
Macrophages phagocytose but cannot destroy due to mycolic acid coat, granulomas form and bacteria multiply within
Primary area of lung infected - ghon focus -> forms ghon complex (calcified hilar lymph node) upon healing
Treated with antibiotics
Can lead to pulmonary fibrosis and eventual death
Can become systemic if untreated -> death via failure of another system

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14
Q

Sarcoidosis

A

Idiopathic granulomatous disease of the lung
Common in young women
Granuloma formation without caseous necrosis
Symptoms eased with steroids
Associated with hypercalcaemia
Serum ACE can be elevated

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15
Q

Rheumatoid arthritis

A

Autoimmune attack on synovium of joints
Leads to granuloma formation
Erode the articular surface of bones -> decreased mobility and pain
Affects all joints, common in young people and smaller joints
Treat with steroids to mediate immune function

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16
Q

Chronic gastritis

A

Aetiologies of note - Heliobacter pylori (irritates stomach lining), use of NSAIDs (retard mucus defence allowing acid to erode mucosa and come into contact with submucosa, impairing function and causing pain)
Treat with antibiotics and acid inhibitors
H. pylori can predispose you to stomach cancer if had for long time

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17
Q

Ulcerative colitis

A

Intermittent abdominal pain, diarrhoea (sometimes bloody), weight loss
Chronic autoimmune inflammation of colon
Histology - shows crypt abscesses, destruction of mucosa and attack on submucosa
Increases risk of colon cancer
Treated with steroids

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18
Q

Crohn’s disease

A

Autoimmune chronic inflammation of any part of GI tract
Abdominal pain, diarrhoea (sometimes bloody), and weight loss
Histology - many granulomas and cobblestone bowel
Complications - anal lesions, bowel fistulae
Treat with steroids

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19
Q

Leprosy

A

Mycobacterium leprae
Chronic inflammation of epidermis, nerves, eyes and respiratory tract
Neuropathy of epidermis, poor eyesight that leads to eventual loss of extremities due to repeated unnoticed injury
Confirm bacteria with acid-fast test then treat with antibiotics

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20
Q

Syphilis

A

Infectious STD - treponema pallidum

1) Painless ulcer on genitals
2) Untreated infection escapes abscess body develops a rash, fever, malaise, lethargy, joint pains, raised lymph nodes (signs of 2ndary acute inflammatory response)
3) Subdues syphilis into latent stage where symptoms go away
4) Disease causes chronic inflammation in separate areas of body such as brain, liver etc -> leads to death

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21
Q

Wegener’s granulomatosis

A

Autoimmune chronic inflammation which presents with ELK (ears/nose/throat - lungs - kidney)
Huge autoimmune attack on the epithelia, causing granulomas and fibrosis
Can lead to renal and kidney failure if untreated
Treat with steroids to reduce immune function

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22
Q

Scurvy

A

Vit C deficiency
Prolyl hydroxylase can’t convert proline -> hydroxyproline
Reduced H bonds, less cross links, weakened structure, wobbly collagen
Commonly presents as bleeding gums

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23
Q

Ehlers-Danlos syndrome

A

Many types depending on collagen affected
Common feature is inherited defect in collagen gene -> leads to hypermobility of joints, stretchy skin, easily bruised, slow healing wounds

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24
Q

Osteogenesis imperfecta

A

Type 1 collagen deficiency/deformity (major component in ground substance in bone)
Severe - no conversion of hyaline skeleton, incompatible with life
Most cases - repeated fractures, bowed long bones, can be confused with abuse
Blue sclera due to unknown cause (thinning of cornea due to collagen issues?)

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25
Alport syndrome
X linked dominant Defect in type 4 collagen -> major issues with basement membranes of kidney, ear and eye Leads to nephritis, haematuria and eventual renal failure along with progressive hearing loss and varied ocular conditions
26
Keloid scars
Scars that deposit a large amount of granulation tissue (mainly type 3 collagen) They extend the boundaries of the original wound (also raised) Much more common in dark skinned races than caucasians
27
Oesophageal strictures
Persistent acid reflux can damage collagen framework of oesophagus Leads to scar tissue formation (inflexible, contraction of myofibrils impacts function) Dysphagia (difficulty swallowing) primary presenting symptom
28
Contractures
After 2nd/3rd degree burn, basal layer permanently damaged Leads to granulation formation (less elastin - less flexible) -> permanent shortening of skin Can occur over a joint -> fixed flexion of joint Can be minimised to ensure full extension of joint but this isn't always feasible
29
Marfan's syndrome
Autosomal dominant Misfolding of fibrillin -> more elastic connective tissue Parts of body will stretch abnormally when under pressure Very tall, arachnodactyly (long fingers/toes), death usually around 40 from aortic rupture
30
Deep vein thrombosis
Formation of thrombus within a deep vein, usually in lower limb Risk factors - inactivity, obesity, the pill, heart conditions Prevention - subcutaneous heparin and TED stockings Treatment - IV heparin/oral warfarin Thrombus can break and migrate to lungs (PE)
31
Pulmonary embolism
Embolism that migrates to the pulmonary arteries, occluding the vessels and causing respiratory symptoms >60% reduction in lung function always fatal Major - shortness of breath, blood in sputum Minor - shortness of breath or asymptomatic Treatment - clot busters (streptokinase) Cause of death... 1) Right sided heart failure - due to severe pulmonary hypertension 2) Mechanical shock - severely decreased preload of left heart 3) Critical hypoxaemia - ischaemia of huge part of lungs
32
Air embolism
Air bubble becomes trapped in blood vessel Result of care provider error (cannulation etc.), barotrauma (diver holds breath as they come up rapidly, bursting alveoli), or decompression sickness > 150ml air into heart = fatal Risk of stroke, ischaemic limb etc. due to occlusion of artery Treatment - hyperbaric chamber (bring to high pressure to dissolve air and then let pressure down slowly)
33
Fat embolism
Embolism as result of long bone breaking, releasing yellow marrow into bloodstream Same risks as other embolisms Not easily treated, wait for body to remove fat, fix bone ASAP
34
Haemophilia A
Recessive X linked No/reduced factor VIII production -> blood can't clot as well (factor Xa production down 50%) Treatment - recombinant factor VIII, avoid thrombolytics/blood thinners
35
Disseminated intravascular coagulation
Widespread overactivation of clotting cascade Formation of many thrombi Can lead to multiple organ damage and death Consumes platelets and clotting factors, making clotting less likely where it is actually needed Treatment - platelet transfusion to prevent haemorrhage (limited extent)
36
Thrombocytopenia
Lack of thrombocytes (platelets) in blood Result of decreased production (folic acid deficiency, bone cancer, infection) or increased destruction (autoimmune) Can be caused by medications eg. methotrexate Treat cause of give platelet transfusion
37
Thrombophilia
Excessive clotting throughout body as result of various genetic disorders Overactivation of clotting cascade Not as severe as disseminated intravascular coagulation > risk of DVT
38
Amniotic fluid embolism
Embolism as result of traumatic birth Amniotic fluid find its way into blood vessels through female reproductive system Same risks as other embolisms Treatment - supportive as amniotic fluid can't be removed, body must do it
39
Bowel infarction
Death of bowel due to occlusion of one of the mesenteric arteries (superior or inferior) Usually due to thrombus coming from left side of heart (result of a left -> right shunt ASD/VSD) Can also be due to atherosclerosis
40
Myocardial infarction
Death of myocardium (result of ischaemia due to occluded coronary artery) Usually result of atherosclerosis but can be due to thrombus Prognosis very poor as cardiac muscle cannot regenerate Treat with coronary bypass and/or stenting to open narrowed coronary artery
41
Transient ischaemic attack
'Mini stroke' Cerebral ischaemia - not deprived long enough to leave permanent damage Symptoms reside within 24 hours, hence transient
42
Peripheral vascular disease
Atheroma in large arteries of leg leads to reduced capacity to perfuse distal lower limb Manifests as intermittent claudication but then progresses to constant ischaemic pain Ends up as dry gangrene as blood supply is completely lost
43
Abdominal aortic aneurysm
Long term atheroma causes weakening and therefore stretching of abdominal aorta -> permanent dilation Sometimes clinically silent until rupture at which point a colossal haemorrhage occurs and death almost certain If large enough seen as pulsatile mass in abdomen Usually left alone until aorta's lumen > 4cm then operated on
44
Familial hypercholesterolaemia/hyperlipidaemia
Disorders of LDL mechanism, LDLs cannot be taken up into cells LDLs left in blood, deposited at atheroma sites, tendons (xanthoma), skin (xanthelasma) and the cornea (corneal arcus)
45
Angina pectoris
Sharp chest pain elicited upon exertion due to narrowed coronary arteries Can meet demand of heart at rest but not upon exertion Disappears up to 10 mins after cease of exercise If it takes longer think MI
46
Cardiac failure
Inability of the heart to supply the needs of the body Many factors, major one = atherosclerosis Leads to ischaemic heart disease
47
Stroke
Cerebral infarction as result of embolism/atherosclerosis Wide range of symptoms usually on one side of body Face - one side will droop Arms - won't be able to hold one in air Speech - speech will slur due to paralysis of facial muscles Time - time is of the essence, act fast to minimise long term damage
48
Multi-infarct dementia
Dementia as a result of multiple cerebral infarctions | Result of neurodegeneration, related to age
49
Ischaemic colitis
Impaired blood flow to colon Can be idiopathic but can be caused by atherosclerosis of either mesenteric artery Leads to malabsorption, abdominal pain, can progress to infarction which will require part of the bowel to be removed
50
Leriche syndrome
``` Peripheral vascular disease specifically affecting abdominal aorta at point of bifurcation into common iliac arteries Triad of symptoms in men... - Claudication of buttock and thigh - Weak/absent femoral pulse - Impotence Treatment - stent to re-open artery ```
51
Chronic eczema
Relapsing inflammatory skin condition characterised by a rash commonly found in skin creases Triggered by exposure to specific allergen Results of excessive hyperplasia -> psoriasis like areas of scaling
52
Psoriasis
Extreme overproduction of skin cells -> excessive deposition of keratinocytes at stratum corneum Manifests as painful red scaling of skin Pathological hyperplasia
53
Goitre (hypothyroidism secondary to iodine deficiency)
Hyperplasia of thyroid gland to compensate for inefficiency No dietary iodine means DIT/MIT cannot be synthesised correctly and so T3 and T4 aren't produced as efficiently Pathological hyperplasia
54
Left ventricular hypertrophy
Pathological hypertrophy Compensatory mechanism by heart to try and overcome hypertension/aortic stenosis/aortic regurgitation Decreased compliance from thicker muscle leads to impaired contraction past certain point Can be physiological as a result of extreme aerobic exercise, beneficial for short bursts such as sprinting
55
Benign prostatic hypertrophy
Surgeons describe it as hypertrophy however at cellular level it is hyperplasia Enlargement of prostate -> presses on urethra -> problems with voiding bladder Largely age related
56
Barrett's oesophagus
Metaplasia of epithelium of the oesophagus (stratified squamous -> simple columnar) due to chronic acid reflux Very strongly associated with oesophageal adenocarcinoma, an aggressive cancer
57
Myositis ossificans
Metaplasia Conversion of connective tissue inside muscle into bone in response to fracture healing More likely in young person who doesn't let fracture heal properly before bearing weight on it again
58
Endometrial hyperplasia
Imbalance of oestrogen vs progesterone where oestrogen > progesterone Uncontrolled proliferation of endometrial lining Can predispose cancer (more divisions = more chance of cancer developing)
59
Disuse atrophy
Wastage of muscles due to lack of usage | Can be reversed with proper usage again
60
Disuse osteoporosis
Loss of bone density due to lack of usage of bone No stress on bone means reduced osteoblast function -> less deposition of new bone Example of atrophy
61
Colorectal carcinoma
Malignant bowel cancer UC > chance of developing Cause severe symptoms by growing large enough to cause bowel obstruction Five year survival = 65%
62
Uterine leiomyoma
Uterine fibroids Benign tumour that arises from smooth muscle of uterus Can cause heavy/painful periods, painful sex and increased urine frequency Common cause for elective hysterectomy
63
Osteosarcoma
``` Malignant bone cancer Aggressive, likely to metastasise Forms osteoid (uncalcified bone precursor) -> pathological fracture more likely Most common in children and elderly 5 year survival = 68% ```
64
Mature cystic teratoma of ovary
Usually benign tumour that contains normal derivatives of more than one germ layer May contain muscle tissue, teeth, skin and hair Normally asymptomatic but can predispose ovarian torsion which will cause referred pelvic/abdominal pain
65
Struma ovarii
Rare type of benign ovarian neoplasm Contains mainly thyroid tissue May produce excess T3/4 and cause hyperthyroidism
66
Chronic lymphocytic leukaemia
Malignant cancer of lymphocyte progenitor cells that leads to overproduction of B lymphocytes These immature and useless cells are deposited into the blood and crowd out the red/white blood cells Eventually leads to anaemia and potentially fatal infection ZAP-70 marker is present, average survival = 8 years ZAP-70 negative survival > 25 years
67
Multiple myeloma
Malignant cancer of plasma cells (terminally differentiated B cells which produce antibodies) Crowds out blood much like leukaemia but bone lesions and hypercalcaemia also present Paraprotein (an antibody) also produced -> kidney damage 5 year survival = 45%
68
Lipoma
Benign tumour composed of adipose tissue Soft to touch Mobile and generally harmless
69
Seminoma
Malignant tumour of testicle One of most treatable and curable malignant cancers Survival rate > 95%
70
Angiosarcoma
Malignant tumour of endothelial lining of vessels either by lymphatic or circulatory systems Location permits rapid metastasis so prognosis poor
71
Astrocytoma
Either benign or malignant depending on grade Benign ones able to progress into malignant eventually Tumour of astrocytes (large glial cells make up blood-brain barrier) Can occur in most parts of CNS Prognosis good if early stage and surgical removal possible, otherwise very poor prognosis Cause unknown
72
Melanoma
Rare and aggressive cancer of melanocytes More common in Caucasians (less melanin = less protection) especially those who live in sunny climates (strong link with UV exposure) Prognosis good if it hasn't penetrated basement membrane, otherwise poor 5 year survival = 91%
73
Carcinoid tumour
Slow growing neuroendocrine tumour Appear malignant microscopically but behave benign Usually found in gut or lung Can lead to excess production of serotonin -> carcinoid syndrome (flushing, wheezing, diarrhoea, abdominal cramps and peripheral oedema)
74
Carcinoma of the pancreas
Malignant cancer of exocrine portion of pancreas Leads to weight loss, jaundice, abdominal pain (non-specific symptoms) Generally metastasised before diagnosis confirmed, makes prognosis generally poor
75
Parathyroid adenoma
Benign tumour of one of the parathyroid glands Cause overproduction of PTH -> hypercalcaemia and phosphate deficiency Pathological fractures (due to decreased bone density), kidney stones, abdominal pain and depression (bones, stones, moans and groans) Treatment - parathyroidectomy
76
Lung cancer
Pulmonary carcinoma Symptoms - haemoptysis (coughing up blood), chest pain, weight loss, shortness of breath One of the big 4 that make up 54% all cancer diagnoses Biggest UK killer of all cancers Can metastasise through blood to whole body or through pleural cavity to other parts of lung Very strong link to smoking 5 year survival = 17%
77
Squamous cell carcinoma of the skin
2nd most common skin cancer behind basal cell carcinoma Malignant and more aggressive than BCC Chronic sun exposure linked to this cancer Common on sun exposed parts (calves, arms, face and neck)
78
Basal cell carcinoma (BCC)
Malignant yet not aggressive Rarely metastasises or kills 30% Caucasians will develop during their lifetime Causes significant damage to facial structures as commonly occurs on face and neck
79
Gastric cancer
Mostly gastric carcinomas (develop from endothelial lining of stomach) Commonly caused by h. pylori Chronic inflammation from h. pylori predisposes individual to cancer (hypothesis) Symptoms non-specific and often confused with indigestion/gastro-oesophagal disease -> misdiagnosis and time for cancer to metastasise 5 year survival = 28%
80
Burkitt's lymphoma
Lymphoma focuses on destroying B lymphocytes | Strong association with Epstein-Barr virus (accounts for disease's high prevalence within equatorial Africa
81
Familial adenomatous polyposis
Hereditary condition characterised by numerous polyps May turn cancerous if untreated Due to hereditary error in APC gene (tumour suppressor gene that interacts with e-cadherin)
82
Retinoblastoma
Cancer of retina cells, has strong hereditary element Very common in children Involves mutation in RB gene that usually acts as tumour suppressor As all germline cells have one faulty allele, only one more mutation hit is required to start developing cancer
83
Xeroderma pigmentosum
Genetic defect that leads to inability to perform excision DNA repair Leaves cells incredibly vulnerable to UV damage Patients far more likely to develop malignant melanoma (or any other skin cancer)
84
Hereditary nonpolyposis colorectal cancer
Autosomal dominant Baseline mutation -> problems with mismatch repair Patients incredibly likely to develop colon cancer
85
Bladder carcinoma
Mainly caused by exposure to carcinogens which cause changes to bladder cells over time Was the basis of realising the relationship between carcinogens and cancer Strongly associated with 2-napthylamine exposure (a dye used in industry)
86
Hepatocellular carcinoma
Primary cancer of liver Very rare but can be caused by Hep B/C acting as indirect carcinogens Chronic inflammation and resulting high cell turnover caused by Hep B/C makes mutation more likely and the mutation will be promoted/proliferated more quickly Remission can be monitored by presence of a-fetoprotein in blood
87
Malignant mesothelioma
Almost never seen without asbestos exposure Cancer of mesothelium that surrounds lungs Asbestos = complete carcinogen (irritates and promotes mesothelioma)
88
Kaposi's sarcoma
Cancer of connective tissue (usually skin but can be anywhere) due to infection with human herpesvirus 8 Cannot usually infect an immunologically heathy person so is very commonly seen in HIV patients HIV acts as a once-removed indirect carcinogen (lowers immunological defences to allow an indirect carcinogen to cause cancer)
89
Cervical carcinoma
Caused by HPV infection in at least 99% cases Steps to prevent - smear screening and HPV vaccination Staging important, T stages... 1) 5cm 4) Spread to wall/muscle/become inflamed Most common = squamous cell carcinoma
90
Breast carcinoma
One of big 4 that make up 54% all cancer diagnoses Clinical grading along with staging is important Can respond to hormone targeted therapy as tumours are usually oestrogen sensitive Bloom-Richardson scale used to grade.. Grade 1 - Presence of tubules Grade 2 - Mitoses Grade 3 - Nuclear pleomorphism
91
Prostate cancer
One of big 4 that make up 54% all cancer diagnoses Reasonable survival rate Uses tumour markers for signposting cancer and checking remission Prostate specific antigen isn't specific to cancer, can just be a disorder of the prostate
92
Testicular cancer
Uses tumour markers to check remission (beta-HCG) Cisplatin used as chemotherapy Sometimes testicle removed Highest 5 year survival rate of any cancer in UK at well over 90%
93
Hodgkin's lymphoma
Lymphoma focuses on destruction of lymphocytes Presence of Reed-Sternberg cell (large, moth eaten, multinucleate) confirms Hodgkin's Ann-Arbor classification system... Stage 1) One lymph node group Stage 2) Multiple lymph node groups on one side of diaphragm Stage 3) Multiple lymph node groups either side of diaphragm Stage 4) Extralymphatic involvement (liver/lungs)
94
Oesophageal carcinoma
Serious but uncommon Not usually caught until metastasised so prognosis very poor (3rd most deadly in UK, incidence 15%) Symptoms - difficulty swallowing, weight loss, persistent cough
95
Chronic myeloid leukaemia
Specific type of leukaemia, huge overproduction of all WBCs -> reduction in RBCs and platelet count Leads to anaemia, inability to clot blood and vulnerability to fatal infections Results from formation of Philadelphia chromosome (from t9:22) that creates new oncogenic fusion protein Imatnib can inhibit this protein giving good prognosis 5 year survival = 90%
96
Ovarian cancer
Can use tumour markers to monitor remission of cancer | CA-125 = specific marker
97
Endometrial cancer
Uterus or uterine cancer Long term use of tamoxifen = risk factor (used as hormone therapy in breast cancer) Risk lowered by long term use of the contraceptive pill
98
Bronchial squamous cell carcinoma
Specific cancer of lungs Commonly releases PTHrp (parathyroid hormone related protein) -> hypercalcaemia as it mimics PTH Also leads to osteoporosis as bone is broken down to release calcium

Mechanisms of Disease Clinical Conditions (1 decks)

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