Rapid Review First Aid (Key Associations): Disease or Finding / Most Common or Important Associations

Mitochondrial inheritance

Disease occurs in all offspring of affected females (maternal inheritance pattern), heteroplasmy

Intellectual disability

Down syndrome, fragile X syndrome

Vitamin deficiency (USA)

Folate (pregnant women are at high risk; body stores only 3- to 4-month supply)

Lysosomal storage disease

Gaucher disease

HLA-DR3

DM type 1, SLE, Graves disease, Hashimoto thyroiditis, Addison disease

HLA-DR4

Rheumatoid arthritis, type 1 DM, Addison disease

Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (eg, adenocarcinoma, MALToma)

H pylori

Opportunistic respiratory infection in AIDS

Pneumocystis jirovecii

Viral encephalitis affecting temporal lobe

HSV-1

Viral infection 2* to blood transfusion

Hepatitis C

Food poisoning (exotoxin mediated)

S aureus, B cereus

Healthcare-associated pneumonia

S aureus, Pseudomonas, other gram (-) rods

Bacterial meningitis (> 6 months old)

S pneumoniae

Bacterial meningitis (newborns 0–6 months old)

Group B streptococcus/E coli/Listeria (newborns)

Osteomyelitis

S aureus (most common overall)

Osteomyelitis in sickle cell disease

Salmonella and S aureus

Osteomyelitis with injection drug use

S aureus, Pseudomonas, Candida

UTI

E coli, Staphylococcus saprophyticus

Bacterial STI

C trachomatis

Pelvic inflammatory disease

C trachomatis (subacute), N gonorrhoeae (acute)

Metastases to bone

Prostate, breast >> lung > kidney, colon

Metastases to brain

Lung > breast >> melanoma > colon, prostate

Metastases to liver

Colon > breast >> pancreas, lung, prostate

S3 heart sound

Increased ventricular filling pressure (eg, MR, AR, HF, thyrotoxicosis), common in dilated ventricles

S4 heart sound

Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy)

Holosystolic murmur

VSD, tricuspid regurgitation, mitral regurgitation

Ejection click

Aortic stenosis

Mitral stenosis

Rheumatic heart disease (late and highly specific sequelae of rheumatic fever)

Opening snap

Mitral stenosis

Heart murmur, congenital

Mitral valve prolapse

Cyanotic heart disease (early)

Tetralogy of Fallot (most common), D-transposition of great arteries, persistent truncus arteriosus, total anomalous pulmonary venous return, tricuspid atresia

Late cyanotic shunt (uncorrected left to right becomes right to left)

Eisenmenger syndrome (caused by VSD, ASD, PDA)

Congenital heart disease (left-to-right shunts)

VSD > ASD > PDA

Hypertension, 2*

Renal/renovascular diseases (eg, fibromuscular dysplasia), atherosclerotic renal artery stenosis, 1* hyperaldosteronism, or obstructive sleep apnea

Aortic aneurysm, thoracic

Marfan syndrome (cystic medial degeneration), 3* syphilis (obliterative endarteritis of vasa vasorum)

Aortic aneurysm, abdominal

Atherosclerosis, tobacco use

Sites of Atherosclerosis

Abdominal aorta > coronary artery > popliteal artery > carotid artery

Aortic dissection

Hypertension (most important risk factor)

Irregularly irregular rhythm on ECG with no discrete P waves

Atrial fibrillation (associated with high risk of emboli) 311

Right heart failure due to a pulmonary caus

Cor pulmonale

Heart valve in infective endocarditis

Mitral > aortic, tricuspid (injection drug use)

Infective endocarditis presentation associated with bacterium

S aureus (acute, injection drug use, tricuspid valve), viridans streptococci (subacute, dental procedure), S gallolyticus (colon cancer), gram (-) ⊝ (HACEK), culture (-) ⊝ (Coxiella, Bartonella)

Cardiac tumor (adults)

Metastasis, myxoma (90% in left atrium; “ball valve”)

Cardiac 1* tumor (kids)

Rhabdomyoma (associated with tuberous sclerosis)

Congenital adrenal hyperplasia, hypotension

21-hydroxylase deficiency

Hypopituitarism

Pituitary adenoma (usually benign tumor)

Congenital hypothyroidism (cretinism)

Thyroid dysgenesis/dyshormonogenesis, iodine deficiency

Thyroid cancer

Papillary carcinoma (RET/PTC rearrangements, BRAF mutations)

Hypoparathyroidism

Accidental excision during thyroidectomy

1* hyperparathyroidism

Adenomas, hyperplasia, carcinoma

2* hyperparathyroidism

Hypocalcemia of chronic kidney disease

Cushing syndrome

ƒ Exogenous glucocorticoids

ƒ Adrenocortical adenoma (secretes excess cortisol)

ƒ ACTH-secreting pituitary adenoma (Cushing disease)

ƒ Paraneoplastic (due to ACTH secretion by tumors)

1* hyperaldosteronism

Bilateral adrenal hyperplasia or adenoma (Conn syndrome)

Tumor of the adrenal medulla (kids)

Neuroblastoma (malignant)

Tumor of the adrenal medulla (adults

Pheochromocytoma (usually benign)

Refractory peptic ulcers and high gastrin levels

Zollinger-Ellison syndrome (gastrinoma of duodenum or pancreas), associated with MEN1

Esophageal cancer

Squamous cell carcinoma (worldwide); adenocarcinoma (US)

Acute gastric ulcer associated with CNS injury

Cushing ulcer (increased vagal stimulation → increased ACh → increased H+ production)

Acute gastric ulcer associated with severe burns

Curling ulcer (hypovolemia → mucosal ischemia)

Bilateral ovarian metastases from gastric carcinoma

Krukenberg tumor (mucin-secreting signet ring cells)

Chronic atrophic gastritis (autoimmune)

Predisposition to gastric carcinoma (can also cause pernicious anemia)

Alternating areas of transmural inflammation and normal colon

Skip lesions (Crohn disease)

Site of diverticulosis

Sigmoid colon

Diverticulum in pharynx

Zenker diverticulum

Hepatocellular carcinoma

HBV (+/– cirrhosis) or other causes of cirrhosis (eg, alcoholic liver disease, hemochromatosis), aflatoxins

Congenital conjugated hyperbilirubinemia (black liver)

Dubin-Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)

Hereditary harmless jaundice

Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)

Wilson disease

Hereditary ATP7B mutation (copper buildup in liver, brain, cornea [Kayser-Fleischer rings], kidneys)

Hemochromatosis

Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, “bronze diabetes,” and increased risk of hepatocellular carcinoma)

Pancreatitis (acute)

Gallstones, alcohol

Pancreatitis (chronic)

Alcohol (adults), cystic fibrosis (children)

Microcytic anemia

Iron deficiency, thalassemias, lead poisoning, sideroblastic anemia

Autosplenectomy (fibrosis and shrinkage), Howell-Jolly bodies

Sickle cell anemia (hemoglobin S)

Platelet disorder with GpIb deficiency

Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)

Platelet disorder with GpIIb/IIIa deficiency

Glanzmann thrombasthenia (defect in platelet-to-platelet aggregation and platelet plug formation)

Inherited bleeding disorder

von Willebrand disease

Hereditary thrombophilia

Leiden (also associated with recurrent pregnancy loss)

DIC

Stroke, snake bite, sepsis, trauma, obstetric complications, acute pancreatitis, malignancy, nephrotic syndrome, transfusion

Malignancy associated with noninfectious fever

Hodgkin lymphoma

Type of Hodgkin lymphoma (most common)

Nodular sclerosis

t(14;18)

Follicular lymphoma (BCL-2 activation, anti-apoptotic

oncogene)

t(8;14)

Burkitt lymphoma (c-myc fusion, transcription factor

oncogene)

Type of non-Hodgkin lymphoma (most common in

adults)

Diffuse large B-cell lymphoma

1* bone tumor (older adults)

Multiple myeloma

Age ranges for patient with ALL/CLL/AML/CML

ALL: child, CLL: adult > 60, AML: adult ∼ 65, CML: adult 45–85

Malignancy (kids)

Leukemia, brain tumors

t(9;22)

Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation), more rarely associated with ALL

Vertebral compression fracture

Osteoporosis

HLA-B27

Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis

Death in SLE

Renal disease (most common), infections, cardiovascular disease (accelerated CAD)

Giant cell arteritis

Risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica

Recurrent inflammation/thrombosis of medium-vessels in extremities

Buerger disease (strongly associated with tobacco smoking, Raynaud phenomenon)

Benign vascular tumor of infancy

Strawberry hemangioma (grows rapidly and regresses spontaneously by 5–8 years of age)

Herald patch (Christmas tree distribution)

Pityriasis rosea

Actinic keratosis

Precursor to squamous cell carcinoma

Cerebellar tonsillar herniation

Chiari I malformation (associated with spinal cord

cavitations [eg, syringomyelia])

Bilateral mamillary body lesions with thiamine deficiency

Wernicke-Korsakoff syndrome (with bilateral lesions)

Epidural hematoma

Rupture of middle meningeal artery (trauma; lentiform

shaped)

Subdural hematoma

Rupture of bridging veins (crescent shaped)

Dementia

Alzheimer disease, vascular dementia (multiple infarcts)