Systemic Connective Tissue Diseases Flashcards
What is sarcoidosis characterized by?
accumulation of granulomatous inflammation in involved tissues
What is most commonly involved in sarcoidosis?
The lungs; Bilateral hilar lymphadenopathy
What are the 3 most common presenting symptoms of sarcoidosis?
- Malaise
- Fever
- Dyspnea
What are some of the multisystem disorder components of sarcoidosis?
Lupus pernio
granulomatous uveitis
arthralgias/anorexia
Cardiomyopathy
*basically wherever the inflammation occurs/granulomas deposit
What diagnostics support sarcoidosis?
CBC - leukopenia
ESR - elevated
ACE levels - increased
Hypercalciuria
Imaging - bilateral hilar adenopathy
Diagnostic: Transbronchial biopsy via fiberoptic bronchoscopy
What should be done for patients with radiographic findings of sarcoidosis but no symptoms?
No treatment needed, but need to be monitored closely with eye exams, CXR, EKG and labs
How should moderate - severe sarcoidosis be treated?
Oral corticosteroids - long term therapy usually required over months to years
What labs will go down with clinical improvement of sarcoidosis?
Serum ACE levels
What is scleroderma?
Chronic systemic connective tissue disease with diffuse fibrosis of the skin and internal organs
What causes scleroderma?
Excessive collagen deposition
What is limited scleroderma
hardening of the skin is limited to the face and hands with minimal organ involvement
What is systemic scleroderma
significant organ involvement that typically has a poorer outcome
What is typically the first manifestation of both forms of scleroderma?
Raynaud phenomenon that usually starts years before other symptoms (white to red to blue)
What are the clinical manifestations of limited scleroderma?
- Thickening of the skin with loss of normal folds
- Digital ischemia leading to finger loss
- CREST syndrome
- Pulmonary HTN
What are the clinical manifestations of diffuse scleroderma
- Polyarthralgia, weight loss, and malaise are common early symptoms
- Skin is first organ affected
- Non-pitting edema and pruritus often come first
- Organs often infected are heart, lungs, kidneys, GI tract
What is CREST syndrome
Associated with limited scleroderma:
Calcinosis
Raynaud phenomenon
Esophageal dysfunction
Sclerodactyly
Telangiectasias
What lab test findings support diagnosis of scleroderma?
Based on clinical findings
CBC may show anemia
Proteinuria if renal involvement
PFTs elevated if pulmonary involvement
***ANA is almost always positive
Anticentromere antibodies are highly specific for limited scleroderma
How is scleroderma treated?
- Mainly supportive
- DMTs
- Treatment is focused on involved organ systems
- Raynaud - CCB
- GERD - PPI and behavior modification
- HTN/renal crisis - ACE inhibitors
What is polymyalgia rheumatica?
Inflammatory disorder that causes muscle pain and stiffness
What is the onset of PMR?
Quick onset that is worse in the morning
What is the hallmark presentation of PMR?
Pain and stiffness in shoulders and hips lasting several weeks without other explanation
What other condition presents with PMR 1/3 of the time?
giant cell arteritis
What are the clinical manifestations of PMR?
- Pain in hips, shoulders, and lower back
- Trouble with combing hair, rising from chair, etc; due to pain and stiffness, not weakness
- Joint stiffness, esp after rest
- Systemic findings: Fever weight, loss fatigue
What are the diagnostic findings in PMR?
- CBC - may show anemia
- ESR and CRP usually markedly elevated
- RF, ANA, CCP ab, and CK all WNL which R/O RA
How are patients with PMR treated?
- Prednisone 12.5-25 mg daily
- Higher dose if above the neck symptoms
- Taper prednisone if patients respond well
- Oftentimes prednisone is needed for about a year
What is SLE?
Inflammatory autoimmune disorder characterized by autoantibodies to nuclear antigens
What are the clinical manifestations of SLE?
Systemic:
1. Fever
2. Anorexia/weight loss
3. Fatigue**/Malaise
Skin lesions:
1. Malar
2. Discoid lupus
3. Periungal erythema
4. Splinter hemorrhages
5. Raynaud
6. More
MSK findings of SLE
Joint pain that can occur with or without synovitis and is commonly the earliest presenting complaint; Avascular necrosis
Eye findings of SLE
Conjunctivitis
Photophobia
Transient or permanent blindness/blurring
Lung findings of SLE
Pleurisy
Pleural effusions
Bronchopneumonia
Pneumonitis
Cardio findings of SLE
Pericarditis
Arrythmias
HTN and myocarditis may lead to heart failure
Neuro findings of SLE
Psychosis
Seizures
CVA
Severe depression made worse with steroids
Renal findings of SLE
Acute or chronic renal failure
Glomerulonephritis
very common*
GI findings of SLE
Mesenteric vasculitis
Diagnostic process for SLE
- ANA positive, then,
- Anti-dsDNA and anti-Smith antibodies
**Anti-Smith is most specific test for SLE, while ANA is most sensitive - CBC may show anemia
How is SLE treated?
- Target individual symptoms
- Topical steroids for skin lesions
- NSAIDs for joint pain
- Avoid sun and use sunscreen - vit D supplements
- Hydroxychloroquine helps prevent flares
- yearly eye exams - Oral steroids for more severe manifestations
- Belimumab
What should always be considered with diagnosis of SLE?
Could be drug-induced; check med list
What differentiated drug-induced SLE from SLE
- fewer clinical manifestations
- M=F
- Anti-dsDNA antibodies are absent
- Symptoms return to normal once drug is discontinued (may take up to 6 months)
What is Sjogren’s syndrome
A systemic inflammatory autoimmune disorder which results in immune-mediated dysfunction of the lacrimal and salivary glands
What are the common features of Sjogren’s syndrome?
Dry eyes and mouth
What does Sjogren’s syndrome increase the risk of?
Lymphoma
What is keratoconjunctivitis sicca
Symptoms of Sjogren’s syndrome; lymphocyte and plasma cell infiltration of the lacrimal glands resulting in decreased tear production
What is Xerostomia
Symptoms of Sjogren’s syndrome:
1. Dry “cotton mouth”
2. Dental carries
3. Inability to taste or smell
4. Parotid enlargement
What are the systemic manifestations of Sjogren’s syndrome?
- Dysphagia
- Pleuritis/interstitial lung disease
- Small vessel vasculitis
- Peripheral neuropathies
What are the diagnostic lab findings in Sjogren’s syndrome?
- Often RF +
- ANA +
- CBC has mild anemia, leukopenia, Eosinophilia
- ESR usually elevated
* no test is 100%
What non-lab tests can be done to support diagnosis of Sjogren’s syndrome?
- Sialography - radiopaque material injected into salivary glands
- Salivary scintigraphy
- Minor salivary gland biopsy*** best definitive test - focal aggregates of at least 50 lymphocytes
What is the treatment for Sjogren’s syndrome
- Supportive - artificial tears, keep mouth lubricated
- Medications - cyclosporine ophthalmic drop, pilocarpine and cevimeline (xerostomia)
*Avoid atropinic drugs and decongestants - Dental care
Sjogren’s syndrome prognosis?
Great, no decrease in life expectancy
What are polymyositis and dermatomyositis characterized by?
- bilateral proximal muscle weakness;
- idiopathic immune mediated inflammatory myopathy
What do patient with dermatomyositis have a greatly increased risk of?
developing occult malignancies
What are the clinical manifestations of polymyositis
- Gradual and progressive muscle weakness, typically proximal and starting in the legs
- Dysphagia in 1/3 of patients
- Muscle atrophy/contractures
- Respiratory weakness may lead to need for mechanical ventilation
- No dermatological involvement
What is the difference between polymyositis and dermatomyositis?
Dermatomyositis = polymyositis + skin involvement
What does the rash associated with dermatomyositis look like?
Dusky red, may be malar or beyond, Shawl sign, Heliotrope rash, Gottron sign
What is amyotrophic dermatomyositis?
A form of dermatomyositis with no musculoskeletal symptoms
How are PMS and DMS diagnosed?
- **CK and aldolase are elevated
- ANA +
- Muscle biopsy is diagnostic test**
What additional testing should be done for patients with PMS and DMS?
CT or MRI to rule out occult malignancy:
1. Ovarian***
2. Lung
3. Pancreatic
4. Stomach
5. Colorectal
6. Non-Hodgkin Lymphoma
How are DMS and PMS treated?
- Corticosteroids are mainstay (40-60mg)
- Methotrexate or azathioprine if CS CI
- Avoid sun exposure
- Poor prognosis if associated neoplasm
What is polyarteritis nodosa?
A systemic vasculitis in which medium-sized and small muscular arteries are affected by necrotizing inflammatory lesions; all 3 layers are effected; microaneurysms form and may lead to hemorrhage, ulcerations, ischemia and thrombosis
What infection is strongly related to polyarteritis nodosa?
Hep B
What are the clinical manifestations of polyarteritis nodosa
- insidious onset of fever, malaise, weight loss
- Mononeuritis multiplex - infarct or ischemia of named nerves
- Pain in extremities
- HTN and GI involvement
- Lungs are rarely involved
What are common skin findings of PN?
- Livedo reticularis
- Subcut nodules - often 1st sign**
- often skin ulcers
- Digital ischemia
PN diagnosis?
- CBC - anemia, leukocytosis, thrombocytosis
- CRP and ESR elevated
- Rule out Hep B infection
- Elevated Cr and proteinuria
- Confirm dx by tissue biopsy or angiogram
PN treatment?
- High dose corticosteroids
- Antivirals and plasmapheresis if Hep B +
- Cyclophosphamide if severe
- Poor prognosis
What is Marfan syndrome
A systemic connective tissue disorder caused by a mutation in the fibrillin gene
MSK sx of Marfan?
- Tall, long arms, arachnodactyly
- Scoliosis
- Chest deformity
- Joint hypermobility
Eye sx of Marfan?
- Ectopia Lentis
- Severe myopia
- Glaucoma/cataracts
- Retinal detachment
- Enophthalmos
Cardiac sx of Marfan?
- Mitral valve prolapse
- Dilation of aortic root
**Leading cause of death is aortic dissection
What are some other common findings in Marfan?
- Spontaneous pneumothorax
- Striae atrophicae
- Highly arched palate and dental crowding
- Dural ectasia
How is Marfan syndrome duagnosed?
Ghent criteria; gene mutation not specific (FBN1)
How is Marfan syndrome treated?
- Moderate physical activity restriction
- Beta Blockers to protect aorta
- Mitral valve replacement
- Annual echo of aorta
- Annual eye exams
- Surgically correct pectus excavatum/scoliosis
- Genetic counseling
What is fibromyalgia?
Widespread musculoskeletal pain accompanied by sleep, memory, and mood issues; pain at known tender points
What are the symptoms of fibromyalgia
- Aching pain and stiffness
- Fatigue
- Sleep disorders
- Chronic headaches
- IBS
- Depression/anxiety
- Even minor exertion worsens pain and increases fatigue
What are the fibromyalgia PE findings?
WNL except for “tender points”
How is fibromyalgia diagnosed?
Diagnosis of exclusion: many labs indicated to rule out other diseases
- If patient has had fever, weight loss, or other objective finding it is not fibromyalgia
Treatment of fibromyalgia?
- Education
-diagnosis is real even though no confirmatory tests
-support groups - Lifestyle changes
-Avoid MSG and Aspartame
-No tobacco
-Good sleep habits - Rehab/therapy
-Limit activities
-heat, massage, low-impact aerobics
-behavioral therapy - Medication
-Lyrica, Cymbalta, Savella
-AVOID: opioids, CS, NSAIDs - Exercise is beneficial
