Final Exam Flashcards
What is the opposite of Osteoporosis?
Osteopetrosis = thick bones resulting from a defect in the function of osteoclasts
*genetic disease
What is the name for a genetic bone defect caused by mutations of the gene for collagen I
Osteogenesis Imperfecta
Failure of longitudinal bone growth is known as what and is caused by what?
*membranous ossification is not affected
Achondroplasia
-Autosomal dominant genetic disease
-In normal growth plate the
activation of FGFR3 inhibits cartilage proliferation, and in Achondroplasia, r/c is in a constant state of activation
What is the most common lethal form of dwarfism?
Thanatophoric Dwarfism FGFR3 mutation (different than in achondroplasia) -macrocephaly, small chest cavity, bell-shaped abdomen -underdeveloped thoracic cavity --> respiratory insufficiency = death at birth
How many subtypes of Osteogenesis Imperfecta are there and which one is most severe?
4 subtypes
Type 2 = fatal in utero
Types 1, 2, 3 have blue sclera at birth
Will have hearing impairments
What is Osteopetrosis also known as?
Marble bone disease and/or Albers-Schonberg disease
What is the state of the bones in a patient with osteopetrosis?
Thick, dense, but brittle bones
*Calcium, phosphate, and alkaline phosphatase are normal levels
What does a decreased marrow space in osteoporosis lead to?
Anemia, thrombocytopenia, infection
Who does Aseptic Bone Necrosis most often affect? What causes it?
Most often affects children/adolescents
Caused by trauma, emboli, drugs, radiation
Where does Aseptic Bone Necrosis occur?
Carpal bones (navicular/scaphoid) Head of Femur
A patient notices symptoms after strenuous physical activity of pain, swelling, and inflammation of the skin, followed by induration (hardening) that has and orange-peel look/feel. Muscles, fingers/toes are unimpaired
*has inflammation of fascia
What do they have?
Eosinophilic Fasciitis
-self-limited disease/uncomplicated
Which gender most likely gets MCTD? (mixed connective tissue disease)
80% female
When should MCTD be suspected?
When additional overlapping features are present in patients appearing to have SLE, systemic sclerosis, polymyositis, or RA
*Raynaud’s syndrome may proceed these manifestations by years
What will lab findings be with someone with MCTD?
RNP antibodies are very high
Positive ANA
Antibodies to ENA usually present
Manifestations of myositis, renal involvement, or pulmonary involvement prompt tests of those organs. Rheumatoid factors are frequently positive, and titers are often high
Is MCTD usually fatal?
No. 80% 10 year survival rate
Causes of death include Pulmonary Hypertension
Is Polymyositis or Dermatomyositis characterized by immune complex deposition in the vessels and is considered a complement- mediated vasculopathy?
Dermatomyositis
Is Polymyositis or Dermatomyositis a direct T cell-mediated muscle injury?
Polymyositis
For Polymyositis and Dermatomyositis, describe the onset of muscle weakness?
Slow onset, Bilaterally symmetric, and often accompanied by myalgias
*Affects proximal muscles first
What is seen in 1/3 of Polymyositis and dermatomyositis?
Dysphagia
Periobital edema with a purplish appearance (heliotrope rash) is specific for what disease?
Dermatomyositis
Should Dermatomyositis or Polymyositis be suspected in patients w/ proximal muscle weakness w/ or w/out tenderness?
Polymyositis
-Dermatomyositis is suspected in patients w/ a heliotropic rash or Gottron’s papules
What is the definitive test for Polymyositis and Dermatomyositis?
Muscle biopsy changes
What are the most common signs/symptoms of Relapsing Polychondritis?
Acute pain, erythema (reddening) and swelling of the pinna cartilage, and/or nasal cartilage = *Saddle nose deformity, ocular inflammation (anderior scleritis)
What is the mortality rate after 5 years for Relapsing Polychondritis?
30% after 5 years from collapse of laryngeal and tracheal structures from cardiovascular complications such as aneurysm, valve insufficiency
When is Sjogren’s Syndrome classified as primary or secondary?
Primary = when no other associated disease Secondary = (about 30%) have autoimmune disorder i.e. RA, SLE, ect
Where/what does Sjogren’s Syndrom affect?
Gritty/dry eyes, dry mouth
*Dry Dry Dry
Salivary, lacrimal, and other exocrine glar become infiltrated with CD4+ T cells and with some B cells, The T cells produce inflammatory cytokines
How are eye signs evaluated in Sjogren’s Syndrome?
Schirmer’s test = measures quantity of tears secreted in 5 minute after irritation from filter paper strip (usually < 5mm of paper is moistened in SS)
What autoantibodies are tested for in Sjogren’s Syndrome (SS)?
Ro = SS-a autoantibodies La = SS-b autoantibodies
Which glands are enlarged with Sjogren’s Syndrome?
Parotid, Submandibular, and Sublingual
Who is most likely to have SLE?
70-90% of cases are in women (usually child-bearing age)
Are joint symptoms common with SLE?
Yes; 90% of patients have symptoms ranging from intermittent arthralgias to acute polyarthritis
What are the skin/mucous membrane manifestations of SLE?
- Malar (cheek) butterfly erythema (flat or raised) that generally spares the nasolabial folds. The absence of papules and pustules helps distinguish this from rosacea
- Photosensitivity
What are the cardiopulmonary manifestations of SLE?
Recurrent Pleurisy (w/ or w/out pleural effusion) Pulmonary emboli, hypertension, and shrinking lung syndrome Cardiac=pericarditis, myocarditis, pericardial effusion
What role does SLE play with the kidneys?
May be the only manifestation of SLE. It may be benign and asymptomatic or progressive and fatal. Renal lesions can range in severity from a focal, usually benign, glomerulitis to a diffuse, potentially fatal, membranoproliferative glomerulonephritis. Common manifestations include proteinuria (most often), an abnormal urinary sediment manifested by RBC casts and leukocytes, hypertension, and edema.
How is SLE diagnosed/what is the criteria for classification?
At least 4 of the following:
Malar (cheek) rash, Discoid rash, photosensitivity, Oral ulcers, Arthritis, Serositis, Renal disorder, ANA, Neurologic disorder, Leukopenia, positive anti-DNA test
What is the best screen for SLE?
Fluorescent ANA
other ANA tests are not specific for SLE
What is the difference b/t mild and severe SLE?
Mild = fever, arthritis, pleurisy, pericarditis, rash Severe = hemolytic anemia, thrombocytopenic purpura, massive pleural and pericardial involvement, significant renal damage, acute vasculitis of extremities or GI tract, florid CNS involvement
What type of Lupus is also called Chronic Cutaneous Lupus erythematosus?
Discoid Lupus Erythematosus (DLE)
- skin lesions begin as erythematous plaques and progress to atrophic scars
- cluster in face, scalp, ears
What type of Lupus is it when patients develop extensive recurring skin rashes (on face, arms, trunk)? Lesions are photosensitive but rarely scar.
Subacute Cutaneous Lupus Erythematosus (SCLE)
Which organs are typically not involved with Drug-Induced Lupus?
Kidney and CNS are not involved usually
When does systemic sclerosis (scleroderma) usually present?
4th-5th decade of life
What is overproduced in SSc (Systemic Sclorosis scleroderma)
Collagen and extracellular proteins
What is the most common initial symptom of SSc?
Raynaud’s syndrome and insidious swelling of distal extremities w/ gradual thickening of the skin of the fingers
Polyarthralgia is prominent (joint pain)
What is the most frequent visceral disturbance with SSc?
Esophageal dysfunction *lower esophageal sphincter becomes incompetent –> acid reflux causing heartburn
Hypomobility of small bowel causes anaerobic bacteria overgrowth –> air seen on x-rays and leakage of bowel into peritoneal cavity = peritonitis
How does SSc (systemic scleroderma) affect cardiopulmonary?
Lung fibrosis is a common cause of death
Heart failure
Cardiac arhythmias are common
How does SSc affect kidneys?
In first 4-5 years in patients w/ diffuse scleroderma, Severe renal disease heralded by sudden, severe hypertension
What does SSc do to the skin of the hands?
Thick and shiny skin and tautness (sclerodactyly)
eventually immobilizes fingers creating clawlike flexion deformity
How is SSc diagnosed?
SCL-70, ANA, and anticentromere antibodies
What is Calcium Pyrophosphate Dihydrate Crystal Deposition Disease also known as?
Pseudogout
As hyperuricemia increases in degree and duration, what physiology is likely to occur?
Gout
hyperuricemia = increased uric acid/urate in urine
What is Podagra?
swelling and pain of first metatarsophalangeal joint of the foot (seen in Gout)
What can cause an increased production of irate?
Increased nucleoprotein turnover in hematologic conditions and in conditions with increased rates of cellular proliferation and cell death
What is the most common cause of hyperuricemia? (seen in Gout)
Decreased renal excretion of irate/uric acid
Where are symptoms of acute gouty arthritis seen?
Podagra (1st metatarophaangeal toe joint), ankle, knee, wrist, and elbow
Who develops Tophi?
Patients w/ chronic gout
*Tophi = firm yellow or white nodules, single or multiple
What are the different symptoms for Acute and Chronic Gout?
Acute = acute attack of joint pain, swelling, and inflammation Chronic = tophi, deposits of uric acid crystals in internal organ, urinary stones
What type of crystals appear in a synovial fluid analysis of Gout?
Needle-shaped, strongly negative birefringent urate crystals
What is Anterior Achilles Tendon Bursitis also known as?
Albert’s Disease (retromalleolar bursitis)
What is Epiphysitis of the Calcaneus also known as?
Sever’s Disease
Who develops Epiphysitis of the Calcaneus and why?
Age 9-14 in someone who is athletically active
2ndary ossification center in calcaneus begins about age 8 and is completed by age 15. The cartilaginous disruption may result from an excessive pull on the apophysis by contracted or shortened calf muscles. = pain on sides of heel
What are the causes of Hammer Toe Deformity?
Misalignment of joint surfaces d/t genetic predisposition = primary cause; RA and Charcot-Marie-Tooth diseases are other causes
How do second toe hammer toes occur?
Elongated 2nd metatarsal (morton’s toe) and pressure from excessively abducted great toe
*causes a C-shaped deformity
What pathology is associated with almost constant foot pain (w/ absence of burning, numbness, and paresthesias) and can be confused w/ plantar fasciosis and tarsal tunnel syndrome?
Medial Plantar Nerve Entrapment
What is a common cause of Metatarsalgia?
Freiberg’s Disease
What is Freiberg’s Disease?
avascular necrosis of the metatarsal head
What is Morton’s Neuroma?
Interdigital Nerve Pain (of foot as seen in Metatarsalgia)
A patient has throbbing heel pain, particularly when shoes are removed or w/ mild heat and puffiness is??
Calcaneal bursitis
A patient has acute sever retrocalcaneal pain w/ redness and heat may indicate?
Gout
What is the name of the bony prominence on the calcaneus in Posterior Achilles Tendon Bursitis?
Haglund’s Defomity
*usually in young women d/t high heels
What is Tarsal Tunnel Syndrome also known as?
Posterior Tibial Nerve Neuralgia
How is JRA different from RA?
In JRA: oligoarthritis is more common, systemic onset is more frequent, large joints are affected more often than small joints, Rheumatoid nodules and rheumatoid factor are usually absent, and +ANA
What are the 3 patterns of JIA (juvenile idiopathic arthritis) initial symptoms?
Systemic onset (stil's disease) Pauciarticular (Oligoarticular) onset = 5 joints often >20
