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Questions and Answers
Which of the following statements about Inclusion Body Myositis is true?
Which of the following statements about Inclusion Body Myositis is true?
Cancer-Associated Myositis occurs more frequently in patients with Polymyositis than Dermatomyositis.
Cancer-Associated Myositis occurs more frequently in patients with Polymyositis than Dermatomyositis.
False
What is the main histological finding in Inclusion Body Myositis?
What is the main histological finding in Inclusion Body Myositis?
Red rimmed vacuoles
The first-line treatment for inflammatory myopathies typically includes __________ and __________.
The first-line treatment for inflammatory myopathies typically includes __________ and __________.
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Match the following antibodies with their corresponding inflammatory myopathies:
Match the following antibodies with their corresponding inflammatory myopathies:
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What is the typical age range for adults experiencing weakness in muscular presentations related to rheumatology and immunology?
What is the typical age range for adults experiencing weakness in muscular presentations related to rheumatology and immunology?
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Females are more likely to present muscular symptoms than males with a ratio of 2:1.
Females are more likely to present muscular symptoms than males with a ratio of 2:1.
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What type of muscle weakness is typically observed in patients with muscular presentations in rheumatology and immunology?
What type of muscle weakness is typically observed in patients with muscular presentations in rheumatology and immunology?
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The estimated frequency of the dermatomyositis rash alone with extremity edema is ___%.
The estimated frequency of the dermatomyositis rash alone with extremity edema is ___%.
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Match the following characteristics to their appropriate descriptions:
Match the following characteristics to their appropriate descriptions:
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What percentage of sarcoidosis cases typically resolve spontaneously?
What percentage of sarcoidosis cases typically resolve spontaneously?
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Sarcoidosis primarily affects males more frequently than females.
Sarcoidosis primarily affects males more frequently than females.
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What is the major manifestation of chronic sarcoidosis?
What is the major manifestation of chronic sarcoidosis?
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Sarcoidosis is characterized by the presence of ________ granulomas.
Sarcoidosis is characterized by the presence of ________ granulomas.
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Match the following risk factors with their descriptions:
Match the following risk factors with their descriptions:
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Which HLA type is associated with Löfgren syndrome and indicates a good prognosis?
Which HLA type is associated with Löfgren syndrome and indicates a good prognosis?
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HLA DRB1 04 has a protective role against sarcoidosis.
HLA DRB1 04 has a protective role against sarcoidosis.
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What is the primary immune response observed in sarcoidosis granulomas?
What is the primary immune response observed in sarcoidosis granulomas?
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The triad of Löfgren syndrome includes arthritis, hilar adenopathy, and _____ .
The triad of Löfgren syndrome includes arthritis, hilar adenopathy, and _____ .
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Match the following HLA types with their associated diseases:
Match the following HLA types with their associated diseases:
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Which pattern is most commonly associated with Interstitial Lung Disease (ILD)?
Which pattern is most commonly associated with Interstitial Lung Disease (ILD)?
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Juvenile Dermatomyositis commonly affects boys aged 5-15 years.
Juvenile Dermatomyositis commonly affects boys aged 5-15 years.
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What are the characteristic features of Cryptogenic organizing pneumonia (COP)?
What are the characteristic features of Cryptogenic organizing pneumonia (COP)?
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Anti MDA-S antibodies are associated with __________ Dermatomyositis.
Anti MDA-S antibodies are associated with __________ Dermatomyositis.
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Match the following antibodies with their associated conditions:
Match the following antibodies with their associated conditions:
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Which of the following is the most common ocular manifestation of sarcoidosis?
Which of the following is the most common ocular manifestation of sarcoidosis?
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Stage 3 of chronic sarcoidosis is characterized by the presence of nodules.
Stage 3 of chronic sarcoidosis is characterized by the presence of nodules.
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What is the characteristic finding referred to as the 'Garland sign' associated with?
What is the characteristic finding referred to as the 'Garland sign' associated with?
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In chronic sarcoidosis, as lung disease worsens, nodal enlargement tends to __________.
In chronic sarcoidosis, as lung disease worsens, nodal enlargement tends to __________.
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Match the stages of chronic sarcoidosis with their descriptions:
Match the stages of chronic sarcoidosis with their descriptions:
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Which of the following features is associated with dermatomyositis but not polymyositis?
Which of the following features is associated with dermatomyositis but not polymyositis?
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The age group commonly affected by polymyositis is primarily the elderly or juvenile population.
The age group commonly affected by polymyositis is primarily the elderly or juvenile population.
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What skin change is specifically associated with anti-synthetase syndrome?
What skin change is specifically associated with anti-synthetase syndrome?
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The most common cause of death in anti-synthetase syndrome progression is __________.
The most common cause of death in anti-synthetase syndrome progression is __________.
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Match the following conditions with their associated features:
Match the following conditions with their associated features:
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What characterizes Gottron's Papule?
What characterizes Gottron's Papule?
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The Heliotrope Rash is characterized by violaceous periorbital edema and erythema.
The Heliotrope Rash is characterized by violaceous periorbital edema and erythema.
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What is the skin manifestation typically associated with juvenile dermatomyositis due to calcium deposition?
What is the skin manifestation typically associated with juvenile dermatomyositis due to calcium deposition?
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The ______ sign is located over the chest.
The ______ sign is located over the chest.
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Match the following skin lesions with their descriptions:
Match the following skin lesions with their descriptions:
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Which characteristic is associated with the rash in dermatomyositis?
Which characteristic is associated with the rash in dermatomyositis?
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The gold standard test for diagnosing muscle disorders is MRI.
The gold standard test for diagnosing muscle disorders is MRI.
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What is the characteristic finding observed in a muscle biopsy for inflammatory myopathies?
What is the characteristic finding observed in a muscle biopsy for inflammatory myopathies?
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In dermatomyositis, the rash may involve the _____ fold.
In dermatomyositis, the rash may involve the _____ fold.
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Match the following diagnostic tests with their characteristic findings:
Match the following diagnostic tests with their characteristic findings:
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Which of the following is NOT classified under the current classification of inflammatory muscle diseases?
Which of the following is NOT classified under the current classification of inflammatory muscle diseases?
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Dermatomyositis can present with heliotrope rash and Gottron's sign.
Dermatomyositis can present with heliotrope rash and Gottron's sign.
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List two elevated serum enzyme levels indicative of muscle inflammation.
List two elevated serum enzyme levels indicative of muscle inflammation.
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Inclusion body myositis is characterized by __________ weakness of the proximal muscles.
Inclusion body myositis is characterized by __________ weakness of the proximal muscles.
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Match the risk factors to their types:
Match the risk factors to their types:
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What duration time frame is typically associated with the presentation of inflammatory muscle diseases?
What duration time frame is typically associated with the presentation of inflammatory muscle diseases?
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Muscle biopsy in inflammatory myopathies typically shows signs of necrosis and regeneration.
Muscle biopsy in inflammatory myopathies typically shows signs of necrosis and regeneration.
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What is the primary type of muscle weakness seen in inflammatory muscle diseases?
What is the primary type of muscle weakness seen in inflammatory muscle diseases?
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Study Notes
Muscular Presentation
- The typical presentation of muscular diseases seen in rheumatology & immunology typically occurs between ages 55-60, affecting females twice as often as males.
- The disease can also manifest in juvenile (5-15 years old) and adult (40-60 years old) age groups.
- The muscle weakness associated with these diseases is often subacute, symmetrical, purely motor, and affects proximal muscles.
- Although the weakness is persistent, there is typically no significant pain associated with it.
- In Inclusion Body Myositis (IBM), the typical patient is elderly, with males affected more than females.
- IBM commonly presents with recurrent falls, a chronic course, asymmetrical proximal and distal muscle involvement, and is unresponsive to steroids.
- Histological analysis reveals red rimmed vacuoles, unlike other myositis presentations.
- Cancer-associated myositis is linked to Dermatomyositis (DM) more frequently than Polymyositis, with anti NXP and anti TIF γ antibodies present.
Clinical Syndromes in Patients with PM-DM
- Dermatomyositis rash, extremity edema, and inclusion body myositis are clinically significant syndromes associated with various muscular diseases.
Progression of Weakness
- The progression of muscle weakness is gradual, extending over weeks to months.
Antibodies Specific to IMDs
- Specialized antibodies are associated with various Inflammatory Muscle Diseases (IMDs). For example:
- Anti mi a is found in Dermatomyositis.
- Anti Jo-1 is associated with the Anti-synthetase syndrome.
- Anti SRP and Anti HMG CoA reductase are seen in Necrotizing myopathy.
- Anti MDA-5 is found in Amyopathic DM.
- Anti NX P₂, Anti TIF, Y are found in cases of Juvenile DM and Cancer-associated myositis.
- No specific antibodies are associated with Inclusion body myositis.
Other Associated Antibodies
- Certain antibodies are associated with various autoimmune conditions:
- Anti Ro
- Anti Ku (may lead to interstitial lung disease – ILD)
- Anti Pm/Scl (associated with Polymyositis, scleroderma, and possible ILD, showing an ANA - nucleolar - pattern)
Treatment
- Treatment focuses on eliminating all disease activity.
- First-line treatment typically involves steroids in combination with either methotrexate (MTX) or mycophenolate mofetil (MMF).
- If first-line treatment fails, Rituximab and JAK inhibitors (like Tofacitinib) may be considered.
Sarcoidosis & Mixed Connective Tissue Disease
- HLA DRB1 03 is associated with Löfgren syndrome, which typically carries a good prognosis.
- HLA DRB1 04 is considered protective against sarcoidosis.
- HLA DRB1 II is associated with central nervous system (CNS) and cardiac sarcoidosis, which has a poor prognosis.
- HLA DRB1 03 is also linked to various autoimmune conditions like Systemic Lupus Erythematosus (SLE), Sjogren's syndrome, and Dermatomyositis.
- HLA DRB1 04 is associated with anti-phospholipid syndrome and rheumatoid arthritis.
- HLA DRB1 05 is linked to scleroderma.
Immune Paradox/Anergy
- Sarcoidosis granulomas exhibit an accumulation of CD4+ T lymphocytes at their periphery.
- However, there is lymphopenia (low lymphocyte count) in the blood, increasing the risk of infections.
- This phenomenon is known as the immune paradox.
- As a result, the Mantoux test (tuberculin skin test) in sarcoidosis patients yields false negatives due to low lymphocyte count.
- In HIV-positive individuals, the reduced lymphocyte count lowers the risk of developing sarcoidosis.
Acute Sarcoidosis: Löfgren Syndrome
- Löfgren syndrome is characterized by a triad of symptoms:
- Arthritis
- Hilar adenopathy
- Erythema nodosum
- The arthritis/tenosynovitis associated with this syndrome is acute.
Sarcoidosis
- Sarcoidosis is a chronic, multi-systemic granulomatous immunological disorder, usually presenting with non-caseating granulomas.
- Approximately one-third of cases may display caseating granulomas.
- The prognosis for sarcoidosis varies:
- 50% of cases spontaneously resolve.
- 25% transition into a chronic form, frequently impacting the lungs.
- 5% result in mortality due to complications like interstitial lung disease (ILD) or infections.
- The disease's severity and progression are heterogeneous.
- Females are affected more than males in adults.
- The etiology of sarcoidosis remains unknown.
Other Diseases with Non-Caseating Granulomas
- Besides sarcoidosis, non-caseating granulomas also seen in:
- Propionibacterium acnes infection
- Tuberculosis (TB) cases
- Lymphoma
- Berylliosis
- Hypersensitivity pneumonitis (HP)
- Cat scratch disease
- Crohn's Disease
American College of Rheumatology (ACR) Criteria for Diagnosis
- Diagnostic criteria include:
- Compatible clinical presentation
- Histological evidence of non-caseating granulomas
- Ruling out other potential causes
Classifications
- Sarcoidosis is classified into acute and chronic forms:
- Acute sarcoidosis features hilar adenopathy as a key finding.
- Chronic sarcoidosis predominantly affects the lungs (causing interstitial lung disease - ILD), skin, eyes, and joints, also impacting the heart, kidneys, and other systems.
Risk Factors
- Potential risk factors include:
- Propionibacterium acnes infection
- Excessive firewood burning
Interstitial Lung Disease (ILD)
- Common patterns of ILD include NSIP (Non-specific interstitial pneumonia) and COP (Cryptogenic organizing pneumonia):
- NSIP is the most prevalent type, characterized by ground glass opacities.
- COP is distinguished by consolidations in the lungs.
- UIP (Usual Interstitial Pneumonia) is characterized by honeycomb structures, reflecting destruction of lung parenchyma.
Other Dermatomyositis Types
- Amyopathic DM is characterized by a poor prognosis and the presence of Anti MDA-S antibodies.
- Juvenile DM primarily affects girls aged 5-15 years, featuring ischemic ulcers, palmar papules, and the absence of malignancy, cardiac involvement, or ILD. Anti NP and Anti TIF antibodies are often present.
- In adults, Juvenile DM can indicate cancer-associated myositis.
Clinical Triad in Children
- A clinical triad of rapidly progressing ILD, calcinosis cutis, lipodystrophy, and vasculopathy is observed in children with dermatomyositis.
Immune Mediated Necrotizing DM
- Different antibodies are associated with Immune Mediated Necrotizing DM, each with varying prognoses and responses to immunotherapy:
- Anti SRP: Seen in severe disease (with ILD and cardiac manifestations) and fails to respond to immunosuppression.
- Anti HMG CoA reductase: Associated with statin therapy (rarely) but responds to immunosuppressive treatment(such as steroids, IV immunoglobulin, and Rituximab).
Heerfordt-Waldenstrom Syndrome
- Heerfordt-Waldenstrom syndrome is a manifestation of sarcoidosis characterized by a combination of:
- Uveitis (any type/compartment, with acute anterior uveitis being the most common)
- Bilateral (B/L) lower motor neuron (LMN) 7th nerve palsy (most common neurological manifestation in sarcoidosis)
- Parotitis
- Note: Bilateral LMN 7th nerve palsy is also seen in Guillain-Barré syndrome.
Chronic Sarcoidosis
- Lung involvement is a hallmark of chronic sarcoidosis, revealing a clinical paradox: the severity of lung disease inversely correlates with nodal (lymph node) enlargement.
- Prognosis of certain stages of chronic sarcoidosis:
- Stage 1: Bilateral hilar lymphadenopathy.
- Stage 2: Node size begins to decrease, infiltrate increases.
- Stage 3: No nodules, only infiltrates.
- Stage 4: Fibrosis.
- Chest X-rays help visualize the stages of chronic sarcoidosis:
- Stage 1: Bilateral hilar lymphadenopathy.
- Stage 2: Nodular enlargement.
- Stage 3: Parenchymal infiltration.
- Stage 4: Diffused fibrosis.
- The images also illustrate specific findings like:
- Garland sign
- Hilar adenopathy
Additional Notes
- Behçet's disease also presents erythema nodosum, manifesting as painful, pretibial papules with pigmentation. Hilar adenopathy is also commonly observed, usually bilaterally.
Inflammatory Muscle Diseases: Anti Jo-1 and Anti-synthetase Syndrome
- Anti Jo-1 is a significant antibody associated with the Anti-synthetase syndrome.
- The syndrome is treatable if diagnosed early.
Clinical Features of Anti-synthetase Syndrome
- Characteristic clinical features of the Anti-synthetase syndrome include:
- Mechanic's hand: A distinctive finding affecting the radial aspect of the index and middle fingers, with crusted hyperkeratotic lesions.
- Raynaud's phenomenon.
- Cardiomyopathy.
- SLE-like arthritis (Jaccoud's arthropathy). Jaccoud's arthropathy is also found in Sjogren's syndrome.
Investigations for Anti-synthetase Syndrome
- Diagnostic investigations include:
- Chest X-ray (CXR): In cases with fever and lung infiltrates.
- If left untreated, the syndrome can progress to interstitial lung disease (ILD) which is the most common cause of death.
Inflammatory Muscle Diseases: Definition and Classification
- Inflammatory muscle diseases are multisystem autoimmune conditions featuring mononuclear inflammation within skeletal muscle.
- They present with subacute muscle weakness, fatigue, and typically last 6-8 weeks.
- Traditional classification distinguishes between: Polymyositis; Dermatomyositis; Inclusion body myositis; Immune-mediated necrotizing myopathy.
- However, current classification includes:
- Dermatomyositis (DM)
- Anti-synthetase syndrome
- Necrotizing myopathies
- Juvenile DM
- Paraneoplastic myositis
- Inclusion body myositis
- Amyopathic DM
- Polymyositis (now obsolete)
Bohan Peter Diagnostic Criteria
- The Bohan Peter criteria for diagnosing inflammatory muscle diseases include:
- Proximal and symmetrical muscle weakness, affecting the pelvic and scapular girdle, anterior neck flexors, with possible dysphagia or respiratory muscle involvement.
- Elevated serum levels of skeletal muscle enzymes.
- Electromyography (EMG) displaying characteristic myopathy features.
- Muscle biopsy demonstrating signs of necrosis, regeneration, and inflammation.
- Typical cutaneous changes, including:
- Heliotrope rash
- Gottron's sign
Risk Factors for Dermatomyositis (DM)
- Factors contributing to the development of Dermatomyositis (DM) include:
- Genetic: HLA-DRB1-03, HLA-DRB1-07
- Environmental: UV B rays, Coxsackie, Parvovirus B19
- Drugs: Chloroquine, Colchicine, Statins
SLE Rash vs. Dermatomyositis Rash
- Distinguishing features of SLE rash and Dermatomyositis rash:
- SLE rash: never involves knuckles, does not involve the nasolabial fold, associated with painless oral cavity ulcers, non-pruritic.
- Dermatomyositis rash: involves knuckles (MCP joint), may involve the nasolabial fold, not associated with oral cavity ulcers, pruritic.
Mechanics Hand
- Mechanics hand is a characteristic feature of the Anti-synthetase syndrome, not Dermatomyositis.
Investigations for Inflammatory Muscle Diseases
- Muscle biopsy is considered the gold standard test, identifying CD4+ T cell infiltration and perifascicular atrophy.
- MRI, specifically STIR sequence, shows hyperintense areas in affected muscles.
- EMG displays polyphasic short duration small amplitude potentials, high frequency discharges, and spontaneous fibrillation/denervation.
- Elevated CPK and AST levels are commonly observed.
- Anti-mi 20 antibodies are associated with a good prognosis and low risk of ILD.
Additional Notes
- MRI showing hyperintense areas indicates responsiveness to conventional therapy (steroids and MMF).
Skin Manifestations
- Pathognomonic skin lesions associated with Dermatomyositis:
- Gottron's papule: Scaly erythematous flat-topped violaceous papule/plaque on the dorsal surface of MCP, PIP, and DIP joints.
- Heliotrope rash: Violaceous periorbital edema and erythema.
Other Skin Lesions
- Other skin lesions observed in Dermatomyositis include:
- Gottron Rash/Sign: Macular erythema over Gottron's papule, linear erythema over the dorsum of the hand.
- V Sign: Located over the chest.
- Shawl Sign: Posterior over the back.
- Over Scalp: Typically pruritic.
- Halster Sign: Erythema on the lateral thigh.
- Telangiectasis: Nail fold capillary involvement, periungual erythema/edema, cuticular hyperplasia.
- Calcinosis Cutis: Calcium hydroxyapatite deposition, also seen in CREST syndrome and juvenile dermatomyositis.
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Description
This quiz covers the typical presentations of muscular diseases seen in rheumatology and immunology, focusing on age groups, gender differences, and specific conditions such as Inclusion Body Myositis and Dermatomyositis. Explore the symptoms, histological findings, and the relationship between these diseases and cancer. Enhance your understanding of muscular disease pathology prevalent in the clinical setting.
