Misc Disorders Flashcards
What is osteomyelitis?
Infection of bone and inflammation of fatty tissues
Essentials of osteomyelitis diagnosis
- Fever associated with bone pain and tenderness
- Microbiologic diagnosis often made from blood cultures
- Elevated ESR and CRP common
- Early radiographs typically negative
Cause of osteomyelitis
- Hematogenous spread
- Spread from contiguous site of infection/open wound
- Secondary infection in setting of vascular insufficiency or concomitant neuropathy
Duration of osteomyelitis
- Acute
- Chronic
Pathophysiology of hematogenous spread
- Typically due to bacteremia and begins in medullary canal
Epidemiology of hematogenous spread
- Most common in children
- Male
Where is osteomyelitis due to hematogenous spread most commonly seen in children?
- Metaphysis of long bones
- Hemoglobinopathies such as sickle cell increase risk
Risk factors for hematogenous spread of osteomyelitis in children
- Complicated delivery
- Maternal infection at delivery
- Prematurity
- Indwelling catheters
- Urinary tract anomalies
- Sickle cell
- Immunodeficiency disorders
MC primary site of infections cause osteomyelitis through hematogenous spread
- Urinary tract
- Skin/soft tissue
- Intravascular catheterization sites
- Endocardium
- Dentition
MC organisms in children leading to osteomyelitis through hematogenous spread
- S. aureus (MC)
- Salmonella (sickle cell)
- Group A and B strep
- Strep. pneumo
- E. Coli
- Kingella Kingae (other countries)
Where does osteomyelitis often manifest in adults through hematogenous spread?
Vertebral column (LS > TS > CS)
Risk factors for osteomyelitis due to hematogenous spread in adults
- Age
- IVDU
- Diabetes
- IVs
- Indwelling urinary catheters
MC organisms in adults causing hematogenous spread leading to osteomyelitis
- S. aureus (MC)
- Pseudomonas (IVDU)
- Gram - organisms (elderly)
What is contiguous spread?
Infection traveling from a soft tissue site
Causes of contiguous spread leading to osteomyelitis
- Open fractures/trauma
- Prosthetic devices
- Neurosurgery
- Septic arthritis
Pathophysiology of contiguous spread of osteomyelitis
- Symptoms begin 1 month after inoculation
- Infection inoculates the bony cortex and migrates towards the medullary canal
Who is most at risk for osteomyelitis due to contiguous spread?
Adults
MC organisms causing contiguous spread of osteomyelitis
- S. aureus
- Staph epidermidis
- Streptococcus
- Polymicrobial infections more common for contiguous spread
What causes secondary osteomyelitis due to comorbid conditions?
- Chronic, progressive soft tissue infection of foot or ankle
- Hip and sacrum can be involved
- Most often related to diabetes/diabetic ulcers and vascular insufficiency
- Polymicrobial infections common: s. aureus and B-hemolytic strep MC
Clinical presentation of osteomyelitis
- Gradual onset of symptoms over several days - weeks
- Dull pain at involved site
- +/- worse with movement
- Fever and rigors
- Tenderness
- Warmth
- Erythema
- Swelling on exam
What should be done in osteomyelitis if ulcer present?
Probing for bone
What is the presentation of vertebral involvement of osteomyelitis?
- Slower progression –> 3 weeks - 3 months
- Localized pain and tenderness of involved vertebrae
- Often more than one vertebrae involved including intervertebral disks
- Pain increased with percussion over affected area
- fever in 1/2 of patients
- +/- neurologic symptoms (due to extension of infection leading to spinal epidural abscess)
Presentations of osteomyelitis in nonverbal patients/pediatrics
- Decreased use/movement
- Fussiness
Presentations of hip, pelvis, vertebral involvement of osteomyelitis?
Predominantly pain with few other symptoms
Diagnostics for osteomyelitis
- Organism isolation in bone, blood, or contiguous focus: blood cultures + in 60% of cases (cultures from wounds, ulcers not reliable)
- CBC: elevated WBC - left shift in acute infection
- ESR and CRP - elevated: helpful to monitor throughout treatment course
- BMP: assess renal and livery function before starting pharmacotherapeutics
- XRAY
- CT/MRI
- Nuclear studies: if MRI contraindicated
- Bone biopsy: if radiologic evidence without + blood cultures
Findings of early osteomyelitis on xray
- Abnormal findings may not be present early in course –> children 5-7 days + and adults 10-14 days +
- Possible soft tissue swelling
- Loss of tissue planes
- Periarticular demineralization of bone
Findings of late osteomyelitis on XRAY
2 weeks after symptoms
- Periosteal thickening or elevation
- Bone cortex irregularity: osteolysis, endosteal scalloping, regional osteopenia
Findings of chronic osteomyelitis on xray
- New bone formation
- Sclerosis
This test for osteomyelitis is highly sensitive and specific, preferred for foot infections
MRI/CT
What are indications for CT/MRI of osteomyelitis
- Onset <2 weeks at presentation
- X-ray is negative in a clinical presentation consistent with infection
- neurologic findings on exam
When would MRI be avoided in osteomyelitis
- Indwelling metal devices
When might an ultrasound be considered in osteomyelitis?
Considered in early cases
Identify joint effusions and extra-articular soft tissue fluid infections
When would a nuclear study be performed?
If MRI is contraindicated
High sensitivity but low specificity
Indications for bone biopsy in osteomyelitis?
- All patients with radiologic evidence of osteomyelitis without + blood cultures
- Osteomyelitis by hematogenous spread doesn’t require bone bx
- Do not delay due to abx use
Technique for bone biopsy
- Open –> can be during debridement
- Percutaneous biopsy –> often image (CT) guided, needed for vertebral osteomyelitis and must be collected through uninfected soft tissue
- Assess biopsy specimen for gram stain, C&S, and histology
What does histology of osteomyelitis show?
Necrotic bone with extensive resorption adjacent to an inflammatory exudate
How is osteomyelitis managed?
- Consult ID and ortho
- Empiric antibiotics in long bone infections covering MRSA and gram - organisms
- Vancomycin + 3rd or 4th gen cephalosporin (ceftazidime, ceftriaxone, cefepime)
- Tailor ABX therapy to culture and susceptibility data once available
- Hardware removal if not needed for bone stability or location affects debridement
- Debridement
What type of antibiotic therapy is preferred?
- IV during acute phase of infection, especially if signs of systemic toxicity
How long should staphylococcal osteomyelitis be treated?
At least 4 weeks
What is treatment for methicillin-sensitive osteomyelitis?
- IV cefazolin
- Nafcillin
- Oxacillin
What is treatment for methicillin-resistant staphy
Vancomycin with goal trough level of 15-20 mcg/mL
What can be done if S. aureus isolates in osteomyelitis show susceptibility to oral agents?
Combo therapy for 4-6 weeks following 2 weeks of administration of appropriate IV agents
* Levofloxacin or ciprofloxacin + rifamprin best
* Trimethoprim-sulfamethoxazole, doxycycline, or clindamycin could be considered
What is debridement?
Removal of necrotic material and culture of involved tissue and bone
Indications for debridement in osteomyelitis
- Infection related to open fracture or surgical hardware
- Extensive disease involving multiple bony and soft tissue layers
- Vertebral osteomyelitis, subperiosteal collection, abscess, or necrotic bone present
- Presence of concomitant joint infection
- Recurrent or persistent infection despite standard medical therapy
If therapy for osteomyelitis is prolonged what should be done?
- Antimicrobial monitoring via labs
- Serial exams until complete resolution
- Serial radiographic imaging not recommended d/t persistent inflammatory changes that can be mistaken for persistent infection
What is IV antimicrobial monitoring?
- CBC and CMP weekly
- ESR and CRP at beginning and end of IV therapy and any time symptoms worsen
- If ESR/CRP remains elevated 2 weeks after completion of abx therapy consider persistence of osteomyelitis
What is PO therapy osteomyelitis monitoring?
- CBC
- Cr and ALT at 2, 4, 8, 12 weeks and every 6-12 months after initiation of PO therapy
Complications of osteomyelitis
- Bone destruction leading to pathological fractures
- Chronic osteomyelitis
- Impaired bone growth in children: increased risk if growth plate is affected
What is chronic osteomyelitis?
- Long-standing bone infection over months or years resulting in development of sequestrum with or without a sinus tract
What are bone changes with chronic osteomyelitis?
- Increased intramedullary pressure leads to rupture of periosteum, which forms a cloaca or sinus tract
- Periosteal blood supply interruptions leading to necrosis
- This dead bone can lead to a radiographic finding known as a sequestrum
- New bone begins to form in areas where the periosteum was damaged, called involcrum
Where is chronic osteomyelitis MC?
- Sternal
- Mandibular
- Foot infections
What is the presentation of chronic osteomyelitis?
- Difficulty with weight-bearing and loss of normal function
- Pain
- Erythema
- Swelling may be present
- +/- draining sinus tract
- Fever usually not present
All diabetic ulcers should be ….
Probed
* Osteomyelitis will likely develop before exposed bone is present
* Palpating bone is suggestive of osteomyelitis
Work up for chronic osteomyelitis
- Same as acute osteomyelitis (will add this later)
- +/- elevation of ESR/CRP
Management of chronic osteomyelitis
- Surgical debridement
- Obliteration of dead space (to stabilize the bone)
- Long-term antibiotic therapy
Complications of chronic osteomyelitis
- Osteolysis and pathologic fractures
- Rarely, chronic osteomyelitis sinus will undergo metaplasia and develop squamous cell carcinoma
What is compartment syndrome?
- Increased pressure within a limited space
- Compromises circulation and function of muscles and nerves within space
Anatomy of compartment syndrome
- Borders of compartment comprised of bone or soft tissue with minimal elasticity
What is the most common location of compartment syndrome?
Lower leg compartments
4 compartments: anterior, lateral, superficial posterior, and deep posterior
In addition to the leg, which other compartments can have compartment syndrome?
- Thigh
- Upper arm
- Forearm
- Hand
- Foot
Pathophysiology of compartment syndrome
- Normal compartment is 10 mmHg
- Pressures up to 20 mmHg can be tolerated without damage
- Muscles and nerves most at risk for cell death from ischemia
- Ischemia occurs after 8 hours leading to neuropathy
- > 12 hours leads to myocyte death
What are causes of compartment syndrome?
Increased volume within compartment
* Crush injury
* Fracture
* Reperfusion injury, post-thrombolytic therapy
* Arterial injury
* Insect bite/snake bite
* Iatrogenic
* Prolonged tetanic contractions
* Bleeding disorder
* Phlebitis
* Thromboembolism
* Drug abuse
Prevention of expansion
* Tourniquet
* Burns
* Constrictive dressings
* Casts
* Extravasation of infusions
Clinical presentation of compartment syndrome
- Pain out of proportion to the injury/PE findings ***early and sensitive sign
- Burning, deep and aching
- Worse with passive stretching of involved muscle
- Paresthesias within 30-120 minutes of onset
- Muscle compartment tense to palpation
- Muscle weakness within 2-4 hours of onset
- Decreased sensation: 2 point discrimination most reliable early test
- Paralysis (late finding)
- Pallor (uncommon)
- Weak pulse (ony in severe vascular compression
5 Ps: pain, pulse, pallor, paresthesia, paralysis
Diagnostics for compartment syndrome?
- Measure compartment pressure
- Laboratory testing not needed to make the diagnosis but may be needed to evaluate the underlying condition
How is compartment pressure measured?
- Avoid in compartments of the hands and feet due to small size of these compartments
- 2 separate pressure readings should be obtained within 5 cm of the site
How is compartment pressure interpreted?
- > 45 mmHg require decompression
- Difference between DBP and compartment pressure <30 mmHg = inadequate perfusion, decompression needed
Steps to determining compartment pressure
- Connect manometer between the syringe and the needle
- Insert needle into the compartment
- Inject a few drops of saline to ensure that there are no air pockets and that the needle is not inserted into a tendon
- The gauge gives pressure reading in mmHg
- Check pressures twice in each compartment (within 5 mm of fracture site)
- Also check adjacent compartment pressures because pressures are highest near the injured area
actually typed this out and don’t need to memorize but here it is
Management of compartment syndrome
- Remove restrictive casts or dressings if applicable
- Elevate affected limb
- Consult surgery for surgical fasciotomy
- Initially leave wounds open to allow for swelling to subside post fasciotomy
- After 48-72 hours consider debridement and closure
- Occasionally delayed closure at 7-10 days may be needed
- Consult plastics for skin grafting if needed prior to closure
Contraindications to surgical fasciotomy
Missed timely diagnosis (elevated tissue pressures >24-48 hours)
Disposition of compartment syndrome
- Admit all patients with compartment syndrome
- Those who do not meet indication for fasciotomy perform serial exams to monitor for worsening symptoms
Prognosis of compartment syndrome
- Depends on time of diagnosis and intervention
- Within 6 hours –> most patients will have complete recovery
- Within 12 hours –> a little over 1/2 of patients will regain normal limb function
- After 12 hours –> <10% will regain function
Essentials of diagnosis of rhabdomyolysis
- Associated with crush injuries to muscle, immobility, drug toxicities, and hypothermia
- Serum elevations in muscle enzymes (CK) and marked electrolyte abnormalities characteristic
- Release of myoglobin leads to direct renal toxicity
What is rhabdomyolysis
- Acute skeletal muscle death leading to release of intracellular contents: myoglobin, creatine kinase, purine, AST, ALT, K+, PO43-
- Leads to acute tubular necrosis resulting in acute kidney injury in 30-40% of patients
What does acute tubular necrosis result from?
Hypovolemia and combination of the following:
* Precipitation of myoglobin and uric acid crystals within renal tubules (uric acid is a metabolite of purine which is released from injured muscles)
* Decreased glomerular perfusion due to hypovolemia from third spacing due to influx of extracellular fluid into injured muscles
* Nephrotoxic effect of ferrihemate (metabolite of myoglobin)
Common etiologies of rhabdomyolysis
- Muscle injury
- Muscle ischemia
- Drugs or toxins
- Exertional
- Infection
- Inflammation (autoimmune muscle damage)
- Body temperature
- Metabolism disorders and blood supply issues
What can cause muscle injury leading to rhabdomyolysis
- Crush trauma
- Deep burns
- Bite wounds
- Necrotizing myopathy
What can cause muscle ischemia leading to rhabdomyolysis
- Shock
- Localized compression
- Immobilization
- Compartment syndrome
What drugs or toxins can cause rhabdomyolysis
- ETOH
- Statins
- Fibrates
- Antipsychotics
- SSRIs
- Benzos
- Recreational drugs
- Salicylates
- Thrombolytics
- Chemo agents
What exertional factors can cause rhabdomyolysis
- Intense physical exercise
- Seizures
What infections can cause rhabdomyolysis?
- Coxsackie virus
- Influenza A and B
- Epstein Barr virus
What can cause body temp change leading to rhabdo
- Hyperthermia/heat illness
- Hypothermia
what are metabolism disorders and blood supply issues that can cause rhabdo
- Thrombosis
- Embolism
- Clamping of artery in surgery
Clinical presentation of rhabdomyolysis
- Dark “tea colored” urine
- Myalgias and weakness
- Malaise
- Low-grade fever
- N/V, abdominal pain, and tachycardia in severe rhabdomyolysis
- Swelling and tenderness of the involved muscle groups may occur, may not become apparent until after rehydration with IV fluids
- Mental status changes if severe renal failure due to urea-induced encephalopathy
Diagnostics for rhabdomyolysis
- CK: most sensitive indicator
- UA: reddish bronw color when urine myoglobin >100 mg/dL; + blood on dip, with negative RBC on microscopic suggests myoglobinuria
- Urine myoglobin
- CMP
- Phosphorus: elevated
- Uric acid: elevated
- EKG: dysrhythmias related to hyperkalemia or hypocalcemia possible
- CBC and coags to loos for DIC
- Imaging: if underlying etiology requires
How is CK associated with rhabdomyolysis
- Direct reflection of amount of muscle injury
- Levels typically 5x upper limit normal and rise 2-12 hours after onset of muscle injury, peaks within 24-72 hours
What will be present on CMP in rhabdomyolysis?
- Elevated K+
- Hypocalcemia early in course, followed by hypercalcemia during recovery
- BUN, Cr - elevated if AKI
- AST/ALT - elevated
Management of rhabdomyolysis
- IV fluids: early and aggressive .9% NS @1-2 L/hr and titrate to UO goal for up to 72 hours MONITOR FOR FLUID OVERLOAD in heart/renal patients
- I&O: insert foley to get accurate output measurements (goal of 200-300 mL/h)
- Urine alkalization
- Cardiac monitoring and serial EKGs
- Electrolytes
- Lab monitoring
Goal of output in rhabdomyolysis
- 200-300 mL/hr UO
Indications for urine alkalinization
- CK levels higher than 500 IU/L
- Acidemia
- Dehydration
- Underlying renal disease
Regimen for urine alkalinization
- 150 mEq of sodium bicarbonate added to 1 L of 5% dextrose or water
- Administered at 200 mL/hr with goal urine pH of >6.5
How are electrolytes managed in rhabdomyolysis
- Treatment of hyperkalemia with IV insulin (with IV glucose) and IV calcium (only if severe hyperkalemia in presence of hypocalcemia)
- Hypocalcemia treatment if severe hyperkalemia
- Phosphate and uric acid rarely need treatment
Lab monitoring for rhabdomyolysis
- CK q6 h - peak CK levels >6000 IU/L increase risk of AKI
- K+ 1-2 hours after initiation of treatment
- Glucose every hour if treating hyperkalemia with insulin/glucose
When should nephrology be consulted about rhabdomyolysis
- Oliguric renal failure
- Persistent electrolyte abnormalities/acidosis
- Signs of fluid overload
When should ortho/surgery be consulted for rhabdomyolysis
- Concern for compartment syndrome
Disposition of rhabdomyolysis
Discharge criteria after rehydration:
* Normal renal function
* Normal electrolytes
* Alkaline urine
* An isolated cause of muscle injury
* No uncontrolled comorbidities
Complications of rhabdomyolysis
- Acute kidney injury: risk increases with dehydration, sepsis, and acidosis
- Compartment syndrome: a potential complication of severe rhabdomyolysis that may develop after fluid resuscitation, with worsening edema of the limb and the muscle
- Disseminated intravascular coagulation: occurs in severe rhabdomyolysis due to release of thromboplastin and other prothrombotic substances from damaged muscle
What is fibromyalgia
- Chronic
- Widespread MSK pain with multiple tender points
- No clear objective findings
- One of most common rheumatologic syndromes affecting 3-10% of the general population
What is the MC population impacted by fibromyalgia
Women aged 20-55
Hypothesis of etiology of fibromyalgia
- Presence of central sensitization to pain and deficits in endogenous pain inhibitory mechanism
- Sleep disorders
- Depression
- Viral infections
Clinical presentation of fibromyalgia
- Chronic fatigue and generalized aching pain
- Prominence of pain around neck, shoulders, low back, and hips
- Most days for >3 months
- Worsened by minor exertion
What are associated symptoms/conditions with fibromyalgia
- Depression
- Anxiety
- Sleep disorders
- Cognitive dysfunction
- Subjective numbness
- Fatigue
- Chronic headaches
- IBS
What is the PE in fibromyalgia
Normal, except for widespread soft tissue tenderness
Joints unaffected
ACR New diagnostic criteria for fibromyalgia
- Widespread pain index (WPI) >7 and symptom severity (SS) > 5 OR WPI 3-6 and SS scale >9
- Symptoms have been present for at least three months
- There is no other disorder that would explain the patient’s symptoms
Fibromyalgia is a diagnosis of ….
exclusion you must consider and rule out differential diagnoses
General Management of fibromyalgia
- Mutlidisciplinary approach is most effective
- Reassurance the condition is diagnosable and treatable
- Goals to improve function and quality of life rather than elimination of pain
- Patient education essential: non-progressive course, treatment available but not curable, compliance and expectations regarding treatment key to success
Non-pharmacologic treatment for fibromyalgia
- Cognitive behavioral therapy: focus on sleep hygiene and mood disorders
- Exercise: low aerobic activity with slow progression (aqua aerobics) to strength training
- Weight loss if overweight
Pharmacologic management for fibromyalgia
- Muscle relaxant: cyclobenzaprine (flexeril)
- Antidepressants: amitriptyline (elavil), duloxetine (cymbalta), milnacipran (savella)
- Anticonvulsants: gabapentin (neurontin), pregabalin (lyrica)
- Analgesic: tramadol (ultram)
- Avoid opioids and corticosteroids
How are most patients treated for fibromyalgia
- Most patients initial cyclobenzaprine or amitriptyline at bedtime
- Severe fatigue: start SNRI (cymbalta/savella)
- Severe sleep disturbance: start with neurontin or lyrica
What is neurogenic arthropathy?
- Condition characterized by progressive destruction of bone and soft tissues at weight bearing joints
- Leads to joint dislocations, pathologic fractures, and debilitating deformities
- Hallmark deformity is midfoot collapse: “rocker-bottom” foot
Pathophysiology of neurogenic arthropathy
- Unknown but multifactorial
- Neuro-traumatic
- Neurovascular
Etiology of neurogenic arthropathy
- Condition that causes sensory or autonomic neuropathy
- DM- most common
- Cerebral palsy
- Alcoholic neuropathy
- Spinal cord injury
- Syphilis
Anatomy of neurogenic arthropathy
- MC foot and ankle
- MC joints: Tarsometatarsal joint
- Cuneonavicular, talonavicular, and calcaneocuboid articulations
Diagnostics for neurogenic arthropathy
- Labs case based for underlying etiologies
- X-ray: weight bearing if possible
- MRI: if x-ray is negative or if osteomyelitis in ddx; sensitive for early disease showing bone marrow edema with or without microfracture and helps r/o osteomyelitis
How does xray present with neurogenic arthropathy?
- Normal or nonspecific in early disease
- Soft tissue swelling, loss of joint space, osteopenia
- As disease progresses: fractures
- Subluxation and frank dislocations
What can you see on progression of neurogenic arthropathy on xray?
- Progressive decrease of calcaneal inclination
- Equinus deformity at the ankle (inability to dorsiflex
- Destruction of the tarsometatarsal joint with the typical rocker-bottom deformity
What are characteristics of stage 0 neurogenic arthropathy?
- Early or inflammatory
- Localized swelling
- Erythema
- Warmth
- Xray: little or no radiological abnormalities
What are characteristics of stage 1 neurogenic arthropathy?
- Development
- Swelling
- Redness
- Warmth persisting
- Xray: bony changes such as fracture, subluxation/dislocation, bony debris
What are characteristics of stage 2 of neurogenic arthropathy?
- Coalescence
- Clinical signs of inflammation decrease
- Xray: fracture healing, resorption of bony debris, and new bone formation
What are characteristics of stage 3 of neurogenic arthropathy?
- Remodeling
- No signs of inflammation
- Bony deformity, which may be stable or unstable, is present
- X-ray: may show mature fracture callus and decreased sclerosis
Management of stage 0-2 neurogenic arthropathy
- Refer to a specialist experienced in treating condition: rheumatology, orthopedist, podiatrist
- Avoid weight bearing –> use casting to offload the affected foot
- Continue until signs of inflammation resolve and improvement in radiologic findings
- Followed by the gradual progression to normal weight bearing with prescription footwear
What is management of stage 3 neurogenic arthropathy?
and those who fail offloading therapy
discuss risk/benefit of surgery
What is Raynaud’s phenomenon?
Syndrome of paroxysmal digital ischemia, most commonly caused by an exaggerated response of digital arterioles to cold or emotional stress
Pathophysiology of Raynaud’s
- Vasoconstriction leading to well-demarcated digital pallor or cyanosis followed by rapid vasodilation resulting in intense hyperemia and rubor
Anatomy of Raynaud’s
MC affects fingers, but it can affect toes, nose and ears
Primary classification of Raynaud’s
- No vascular structural abnormalities
- Exaggeration of normal vasoconstriction to cold exposure
- MC onset in healthy females between 15 and 30 years of age
- FMHx in 30% of patients
Secondary classification of Raynaud’s
- Underlying condition leads to RP
- MC onset in male over age 40
- MC associated with rheumatologic conditions: systemic sclerosis, SLE, sjogren, or dermatomyositis
- Other risk factors/precipitating events: frostbite, chronic use of certain tools (ie jackhammer)
- Symptoms more severe with increased risk of digital ulceration or gangrene
Presentation of Raynaud’s phenomenon
- Sudden onset of cold digits with a demarcation of skin pallor (white attack) or cyanosis (blue attack)
- White attacks more likely to lead to digital ischemia
- During rewarming, there is vascular reperfusion, resulting in erythema secondary to rebound blood flow
- Associated symptoms: aching or throbbing pain, paresthesia, numbness, stiffness, mild swelling may occur after rewarming
- Sclerodactyly
- Calcinosis
- Digital ulcers
Location of Raynaud’s phenomenon
- Early in course single finger
- With time multiple fingers of both hands
- MC digits: index, middle, and ring fingers
What tool can help with diagnosis of raynaud’s phenomenon
- Opthalmoscope to magnify nailfold capillaries: abnormally large loops, alternating areas without any capillaries
- Enlarged or distorted capillary loops and/or dropout or loss of loops suggest an underlying autoimmune rheumatic disease
Management of primary Raynaud’s phenomenon
- Patient education
- Follow up regularly to ensure signs and/or symptoms of secondary causes of raynaud’s phenomenon do not emerge
- RP is occasionally 1st manifestation of these disorders
Management of secondary Raynaud’s phenomenon
- Order labs to look for underlying causes –> individually based upon H&P
- Treat underlying disease
What patient education should be provided to a patient with Raynaud’s phenomenon?
- Wear mittens and stockings when outside in cold weather
- Avoid vasoconstricting medications: decongestants, diet pills, sumatriptan, opiates
- Smoking cessation
- Refer to vascular surgery if resistant to pharmacologic therapy
Pharmacologic therapy for Raynaud’s phenomenon
- If failure to control symptoms with non-pharm therapies or if evidence of digital ulcers
- CCB’s - first line: amlodipine 5-20 mg/d
- Topical vasodilators, PDE5 inhibitors
What is Marfan’s syndrome?
Genetic disorder of the connective tissue characterized by skeletal, ocular, and cardiovascular abnormalities; affects 1 in 5000 patients
Presentation of Marfan syndrome
- Typically tall, with long arms, legs, and digits
- Scoliosis
- Pectus excavatum/carinatum
- Ectopia lentis is present in about 1/2 of patients
- Severe myopia
- Retinal detachment can occur
- Mitral valve prolapse in 85% of patients
- Aortic root dilation common and leads to aortic regurgitation or dissection with rupture
Diagnostics for marfan syndrome
- Echocardiogram/abdominal US to assess aorta
- Slit lamp exam to check lens displacement
- Genetic testing: mutations in the fibrillin gene on chromosome 15
What criteria is used to diagnose Marfan syndrome?
Ghent scoring system
Management of Marfan Syndrome
- Annual opthalmologic evaluation: monitor and correct visual acuity and prevent amblyopia
- Annual orthopedic consultation: monitor development of scoliosis at early age to brace and delay progression
- Echo annually to monitor aorta diameter and mitral valve function, follow with cardiology annually and surgical intervention may be necessary
- Long term beta blockers slows rate of aortic dilation: atenolol or metoprolol
- Restriction from vigorous physical exertion to prevent aortic dissection
Prognosis of Marfan syndrome
- Results in death in 4th or 5th decade from aortic dissection or heart failure secondary to aortic regurgitation in untreated marfans
- Life expectancy increased with early diagnosis, lifestyle modifications, beta-adrenergic blockade, and prophylactic aortic surgery
