Misc. Rheumatologic Conditions Pt. 1 & 2 Flashcards
Inflammatory Myopathies include:
- Myositis, Polymyositis, dermatomyositis
– Typically, idiopathic but may result
from rheumatic disease overlap
syndrome
Polymyositis pathogenesis
- Muscle pathology varies substantially
– Nonspecific inflammatory cells are
found in perimysial, endomysial,
& perivascular locations - CD8+ T cells & macrophages
- May or not invade actual myofibers
- Hard to tell the difference between
inclusion body myositis
Polymyositis clinical presentation
Insidious symmetrical, proximal muscle weakness
– Myalgias only occur <30% of patients
– Arthralgias may be associated
– Difficulty kneeling, using stairs, raising arms,
lifting objects, combing hair, & rising from a
seated position
– Weak neck extensors = difficulty holding the
head up
– Pelvic girdle involvement > upper body weakness
Polymyositis PE
Symmetrical muscle weakness
* proximal or distal
* mild-to-severe
* acute or insidious onset
– 5 most affected muscle groups
* hip flexors, extensors, & abductors
* neck flexors
* shoulder abductors
– Normal sensation. DTR usually preserved, unless severe disease
Polymyositis diagnosis
– CBC - May show leukocytosis (50%) or
thrombocytosis
– ESR or C-reactive protein level - ↑ 50% of
patients
– ↑ muscle enzyme levels
* Serum creatinine kinase 5-50x reference range
– Myoglobinuria
– Autoantibodies
* 15% (+) ANA
– Positive rheumatoid factor ~50% of patients
Polymyositis management
- 1st line Treatment
– High-dose corticosteroids (1 mg/kg),
with vitamin D & calcium supplements
– methotrexate or azathioprine
– nonsteroidal immunosuppressants (if
unresponsive to steroids)
– Biologics - in Myositis (RIM) study
(N=200) = 83% of patients
improved
Dermatomyositis etiology
- Cause = ?
- Theory
– genetic predisposition +
environmental trigger = chronic
immune activation resulting in
muscle tissue damage
Dermatomyositis clinical presentation
- Insidious symmetrical, proximal muscle weakness
- ~40% skin disease is the sole manifestation at onset
- Pruritis
- Myalgias only occur <30% of patients
- Arthralgias may be associated
- Difficulty kneeling, using stairs, raising arms, lifting objects, combing hair, & arising from a seat
- Weak neck extensors = difficulty holding the head up
- Pelvic girdle involvement > upper body weakness
Dermatomyositis PE
- Pathognomonic cutaneous features
– Heliotrope rash
– Gottron papules - Malar erythema
- Poikiloderma (photosensitive areas)
- Violaceous erythema (extensor surfaces)
- Periungual & cuticular changes
- Symmetrical muscle weakness
Dermatomyositis diagnosis
CBC - May show leukocytosis (50%) or
thrombocytosis
– ESR or C-reactive protein level - ↑ 50% of patients
– ↑ muscle enzyme levels
* Serum creatinine kinase 5-50x reference range
– Myoglobinuria
– Autoantibodies?
* 15% (+) ANA
– Positive rheumatoid factor ~50% of patients
Dermatomyositis management
1st line Treatment
* High-dose corticosteroids
(1 mg/kg), with vitamin D & calcium
supplements
Other treatments
* methotrexate or azathioprine
* nonsteroidal immunosuppressants
– if unresponsive to steroids
* Biologics
– Rituximab in Myositis
(RIM) study (N=200) = 83%
of patients improved
Fibromyalgia etiology
- Cause = ?
- Theories
– hyper excitability of CNS pain
receptors OR
– abnormal central processing of
nociceptive input OR
– dysfunction of hypothalamic
pituitary adrenal axis specifically
dopaminergic neurotransmission
Fibromyalgia pathogenesis
- Studies demonstrate a strong
genetic association with
fibromyalgia - Multiple genetic markers identified
– None are specific - Possible genes involve serotonin,
dopamine, & catecholamine
pathways
Fibromyalgia clinical presentation
- “I hurt all over, all the time”
- Chronic, widespread pain, #1 complaint
- Other symptoms
– Tenderness
– Fatigue
– sleep disturbance
– Weakness
– ↓ in physical
functioning
– Headache
– mood disturbances
– Heat/cold intolerance
– subjective swelling in
extremities
– morning stiffness
– memory problems
– concentration
difficulties
– diminished mental
clarity
Fibromyalgia comorbidities
Fatigue
– Poor sleep
– Most patients meet the
classification for chronic fatigue
syndrome (CFS)
– Cognitive problems (“fibro fog”)
– Chronic pain disorders
– Central sensitivity syndromes
– Systemic inflammatory illnesses
may be complicated by
fibromyalgia
Fibromyalgia diagnosis
– Widespread (multisite) pain
– Present for at least 3 months
– Fatigue, sleep disturbances
– Other symptoms, such as
cognitive disturbances,
headaches, bowel irritability
* American College of Rheumatology
– Preliminary diagnostic criteria for fibromyalgia & symptom severity
Fibromyalgia PE
– Widespread (multisite) tenderness
* Point tenderness with
~4 kg/m2 of pressure
– enough pressure to blanch
the tip of the thumbnail
– Absence of joint swelling,
inflammation
Fibromyalgia complications
- Most patients continue to have
chronic pain & fatigue - Patients experience more work
disability - Only a minority of patients
experience substantial
improvement with drug therapy
– Adverse side effects common
Polymyalgia Rheumatica clinical presentation
- Bilateral pain & stiffness in neck muscles, & shoulder & hip girdle
- Pain may radiate to elbows or knees
- Systemic symptoms ~40%-50% of patients
– fatigue
– malaise
– anorexia
– weight loss
– low-grade fever
Polymyalgia Rheumatica diagnosis
– Muscle pain in neck, shoulder, or
pelvic girdle
* > 2 weeks
– Neck stiffness, especially in
morning
* > 45 minutes
– elevated ESR & CRP
– RF, Anti-CCP, or ANA usually (–) in
patients with PMR
Polymyalgia Rheumatica management
- Initiate low-dose steroid therapy &
gradually taper over 1-2 years
– Tailor treatment to individual
symptoms and/or adverse
reactions
Scleroderma (Systemic Sclerosis)
Systemic Sclerosis is a multisystem connective tissue disease that is characterized by chronic inflammation with variable degrees of collagen accumulation (fibrosis) in affected tissues and obliterative vasculopathy of the peripheral and visceral vasculature
Scleroderma epidemiology
● Rare disease; estimated incidence of approximately 18 to 20 cases per million
population per year
● Prevalence of 100 to 300 cases per million population
● Most commonly seen in women (female/male = 4:1) between the ages of 35 and
64 years
Scleroderma Etiology
The exact cause of Scleroderma is unknown with development being attributed to a
complex interplay inflammation, autoimmunity, vasculopathy, and fibrosis. Factors in the
development include a genetically susceptible host, sex-related factors, and external
triggers.
Environmental factors causing scleroderma
○ Silica dust, vinyl chloride, epoxy resins, pesticides, and organic solvents
Pathologic changes occurring in scleroderma
- Microangiopathy
- Inflammation and autoimmunity
- Visceral and vascular fibrosis
Two main types of Scleroderma
● Generalized scleroderma: systemic sclerosis (internal organ involvement)
● Localized scleroderma:
○ cutaneous changes consisting of dermal fibrosis without internal organ
involvement:
CREST Syndrome
Calcinosis cutis, Raynaud
phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia
Systemic Sclerosis (SSc) sine scleroderma
only internal organ involvement)
○ This is a rare form of the illness and is characterized by the typical
vascular features and visceral fibrosis of systemic disease without skin
sclerosis. The prognosis is similar to patients with lcSSc
Generalized scleroderma types
systemic sclerosis (internal organ involvement)
○ Limited cutaneous (lcSSc)
■ typically have skin sclerosis restricted to the hands/wrists and, to a lesser
extent, to the face and neck.
■ Also associated with CREST Syndrome (Calcinosis cutis, Raynaud
phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia).
○ Diffuse cutaneous (dcSSc)
■ Extensive skin sclerosis and are at a greater risk for the development of
significant renal, lung, and cardiac disease. The central criterion for the
diagnosis of dcSSc is the extension of skin sclerosis proximal to the wrists
(particularly over the proximal limbs and trunk but commonly sparing the
upper back).
Localized scleroderma:
cutaneous changes consisting of dermal fibrosis without internal organ
involvement:
■ Morphea:
● Single or multiple plaques commonly on the trunk.
■ Linear scleroderma:
● Bands of skin thickening commonly on the legs or arms
■ Scleroderma en coup de sabre (Sabre-cut):
● Subtype of linear seen on the face
Environmentally-induced scleroderma
○ This is characterized by the generally diffuse distribution of skin sclerosis in combination with a history of exposure to an agent suspected of precipitating scleroderma:
■ vinyl chloride, epoxy resins, pesticides, and a number of organic solvents used in paints.
■ Chemotherapeutic agents that include taxanes
Scleroderma cutaneous involvement
● Skin involvement is a major feature of Scleroderma. It is characterized by
variable extent and severity of skin thickening and hardening. The fingers,
hands, and face are generally the earliest areas involvement.
● Remember- Skin involvement is a surrogate for visceral organ involvement
