Autoimmune Disorders — MCQs
An elderly male presents with pain in his shoulders and hands. ESR is 105 mm/L. History includes transient blindness and unilateral headache.
Pauciarticular JRA is characterized by all except:
Which of the following is NOT a large vessel vasculitis?
Sjogren's syndrome includes all except:
A 40-year-old woman with rheumatoid arthritis presents with eye pain and redness. Examination reveals scleritis. What is the most likely associated systemic complication?
Patient presenting with cutaneous vasculitis, glomerulonephritis, peripheral neuropathy, which investigation is to be performed next that will help you diagnose the condition?
Retinitis pigmentosa is a feature of all except which of the following?
A 30-year-old female presents with a butterfly rash on her face, photosensitivity, and joint pain, and laboratory tests reveal positive antinuclear antibody (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies. What is the most likely diagnosis?
A patient presents with palpitations, weight loss, and lid lag. Labs show low TSH and elevated free T4. Diagnosis?
Which of the following is NOT associated with erythema nodosum?
Autoimmune Disorders Indian Medical PG Practice Questions and MCQs
Question 1: An elderly male presents with pain in his shoulders and hands. ESR is 105 mm/L. History includes transient blindness and unilateral headache.
- A. Polyarteritis nodosa
- B. Polymyalgia rheumatica (Correct Answer)
- C. Ankylosing spondylitis
- D. Behçet syndrome
Explanation: ***Polymyalgia rheumatica*** - The combination of **shoulder and hand pain** in an elderly male, along with a **very high ESR**, is highly suggestive of polymyalgia rheumatica [1]. - **Sudden transient blindness** and **unilateral headache** are concerning for giant cell arteritis, which is often associated with polymyalgia rheumatica and requires prompt treatment. *Polyarteritis nodosa* - This is a **necrotizing vasculitis** of medium-sized arteries, often presenting with systemic symptoms, **renal involvement**, and **neuropathy**. - It typically does not cause shoulder and hand pain as the primary presenting symptom, and the transient blindness and headache are more characteristic of giant cell arteritis. *Ankylosing spondylitis* - This condition primarily affects the **axial skeleton**, causing **inflammatory back pain** and stiffness, particularly in younger individuals [2]. - It does not typically present with shoulder and hand pain, transient blindness, or a temporal headache in an elderly patient. *Behçet syndrome* - Characterized by **recurrent oral and genital ulcers**, **uveitis**, and **skin lesions**. - The presenting symptoms of shoulder and hand pain, high ESR, transient blindness, and unilateral headache are not typical features of Behçet syndrome.
Question 2: Pauciarticular JRA is characterized by all except:
- A. Scleritis (Correct Answer)
- B. Uveitis
- C. Keratopathy
- D. Cataract
Explanation: ***Scleritis*** - **Scleritis** is a rare ocular manifestation in juvenile idiopathic arthritis (JIA) and is not a characteristic feature of **pauciarticular JRA**. - Its presence would suggest other systemic inflammatory conditions or more severe forms of JIA, but not typical pauciarticular JRA. *Uveitis* - **Uveitis**, specifically **chronic anterior uveitis**, is a common and often asymptomatic complication in pauciarticular JRA, particularly in ANA-positive girls. - Regular ophthalmologic screening is crucial for early detection and prevention of long-term vision impairment. *Keratopathy* - While not a direct primary manifestation, **keratopathy** (corneal disease) can occur as a secondary complication of chronic **uveitis** in pauciarticular JRA, often due to inflammation and prolonged use of corticosteroids. - Corneal band keratopathy, in particular, is associated with chronic anterior uveitis. *Cataract* - **Cataract formation** is a known complication associated with chronic **uveitis** in pauciarticular JRA, often exacerbated by long-term corticosteroid use. - It results from chronic inflammation affecting the lens of the eye and can lead to significant vision loss if untreated.
Question 3: Which of the following is NOT a large vessel vasculitis?
- A. Giant cell arteritis
- B. Aortitis
- C. PAN (Correct Answer)
- D. Takayasu disease
Explanation: ***PAN*** - **Polyarteritis Nodosa (PAN)** is a **medium-sized vessel vasculitis** that causes necrotizing inflammation of the muscular arteries [4]. - It specifically spares arterioles, capillaries, and venules, distinguishing it from large vessel vasculitides [4]. - PAN typically presents with **systemic symptoms**, **renal involvement**, **peripheral neuropathy**, and **skin manifestations** [1]. *Giant cell arteritis* - **Giant cell arteritis (GCA)**, or temporal arteritis, is a **large vessel vasculitis** affecting the aorta and its major branches, particularly the temporal artery [2]. - It commonly presents in individuals over 50 years old with symptoms like **headache**, **jaw claudication**, and **vision loss** [3]. *Aortitis* - **Aortitis** refers to inflammation of the aorta, which is the body's largest artery, making it by definition a **large vessel vasculitis**. - It can be seen in conditions like **Takayasu arteritis** [3] or **syphilis**, affecting the vessel wall. *Takayasu disease* - **Takayasu arteritis** is a chronic inflammatory condition primarily affecting the **aorta** and its main branches, classifying it as a **large vessel vasculitis** [3]. - It often affects young women and can lead to **stenosis** or **aneurysm formation** in the affected vessels [3]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 687-688. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of Infancy and Childhood, pp. 516-517. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 688-689. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of Infancy and Childhood, pp. 517-518.
Question 4: Sjogren's syndrome includes all except:
- A. Keratoconjunctivitis
- B. Xerostomia
- C. Lymphoma (Correct Answer)
- D. Arthritis
Explanation: Sjogren's syndrome includes all except: ***Lymphoma*** - While patients with **Sjogren's syndrome** have a significantly **increased risk of developing lymphoma** (particularly MALT lymphoma), lymphoma itself is not considered one of the primary diagnostic features or components of the syndrome. - Sjogren's syndrome is an **autoimmune disease** characterized by immune-mediated destruction of exocrine glands, leading to sicca symptoms. *Keratoconjunctivitis* - This is a hallmark feature of Sjogren's syndrome, referring to **dry eyes** due to reduced lacrimal gland function. - The sensation of **gritty eyes** or foreign body sensation is common. *Xerostomia* - This symptom, commonly known as **dry mouth**, is a classic manifestation of Sjogren's syndrome resulting from inflammation and damage to the salivary glands. - Patients often report difficulty chewing, swallowing, and speaking. *Arthritis* - **Arthralgia** (joint pain) and **non-erosive arthritis** are common systemic manifestations observed in patients with Sjogren's syndrome. - This joint involvement is typically **symmetrical** and affects the small joints, similar to rheumatoid arthritis but usually without the destructive changes.
Question 5: A 40-year-old woman with rheumatoid arthritis presents with eye pain and redness. Examination reveals scleritis. What is the most likely associated systemic complication?
- A. Interstitial lung disease (Correct Answer)
- B. Cardiomyopathy
- C. Renal failure
- D. Peripheral neuropathy
Explanation: ***Interstitial lung disease*** - **Scleritis** in a patient with **rheumatoid arthritis** often indicates a more severe, systemic form of the disease. - **Interstitial lung disease (ILD)** is a common and serious **extra-articular manifestation** of rheumatoid arthritis, associated with higher disease activity and worse prognosis. *Cardiomyopathy* - While cardiac involvement can occur in RA (e.g., pericarditis, myocarditis), **cardiomyopathy** is less directly correlated with scleritis as a linked severe systemic complication. - **Rheumatoid arthritis** can increase the risk of cardiovascular disease due to accelerated atherosclerosis and systemic inflammation, but cardiomyopathy itself is not typically the direct systemic complication associated with scleritis. *Renal failure* - **Renal involvement** in rheumatoid arthritis is uncommon, usually related to complications from treatment (e.g., NSAID-induced nephropathy) or secondary amyloidosis, not directly with scleritis. - Scleritis itself does not directly predispose to **renal failure** as a primary systemic complication of RA. *Peripheral neuropathy* - **Peripheral neuropathy** can be a complication of rheumatoid arthritis, particularly in severe cases or vasculitis. - However, it is not as strongly or directly linked to the presence of **scleritis** as **interstitial lung disease** is, in terms of signifying systemic disease severity.
Question 6: Patient presenting with cutaneous vasculitis, glomerulonephritis, peripheral neuropathy, which investigation is to be performed next that will help you diagnose the condition?
- A. HbsA
- B. RA factor
- C. Complement levels (C3, C4)
- D. ANCA (Correct Answer)
Explanation: ***ANCA*** - The combination of **cutaneous vasculitis**, **glomerulonephritis**, and **peripheral neuropathy** strongly suggests a **systemic vasculitis**, for which ANCA testing is crucial for diagnosis and classification [1]. - **ANCA (anti-neutrophil cytoplasmic antibodies)** are primarily associated with **ANCA-associated vasculitides** such as **granulomatosis with polyangiitis (GPA)**, **microscopic polyangiitis (MPA)**, and **eosinophilic granulomatosis with polyangiitis (EGPA)** [1]. *HbsA* - **Hepatitis B surface antigen (HbsAg)** testing is relevant in the context of **polyarteritis nodosa (PAN)**, a type of vasculitis sometimes associated with hepatitis B infection. - However, the clinical presentation here, particularly the glomerulonephritis, is less typical for PAN and more suggestive of ANCA-associated vasculitis. *RA factor* - **Rheumatoid factor (RF)** is primarily associated with **rheumatoid arthritis**, which typically presents with inflammatory polyarthritis rather than widespread vasculitis, glomerulonephritis, and peripheral neuropathy. - While some cases of **rheumatoid vasculitis** can occur, the constellation of symptoms points more strongly towards a primary systemic vasculitis. *Complement levels (C3, C4)* - **Low complement levels (C3, C4)** are characteristic of **cryoglobulinemic vasculitis** (often associated with **HCV infection**), **lupus nephritis**, or certain forms of **post-streptococcal glomerulonephritis**. - While vasculitis and glomerulonephritis can occur in these conditions, the specific combination presented (cutaneous vasculitis, glomerulonephritis, peripheral neuropathy) makes **ANCA-associated vasculitis** a more direct and urgent consideration for initial investigation.
Question 7: Retinitis pigmentosa is a feature of all except which of the following?
- A. NARP
- B. Refsum's disease
- C. Hallervorden-Spatz disease (Correct Answer)
- D. Abetalipoproteinemia
Explanation: ***Hallervorden-Spatz disease*** - Also known as **Pantothenate kinase-associated neurodegeneration (PKAN)**, this disorder primarily causes **extrapyramidal symptoms** such as dystonia and parkinsonism due to iron accumulation in the basal ganglia. - While it is a neurodegenerative disorder affecting the brain, **retinitis pigmentosa** is not a characteristic feature of Hallervorden-Spatz disease. *Refsum's disease* - This is an **autosomal recessive peroxisomal disorder** characterized by the accumulation of **phytanic acid**, which is toxic to various tissues. - **Retinitis pigmentosa** is a classic symptom, often presenting with night blindness and progressive vision loss, along with **ataxia**, **polyneuropathy**, and **ichthyosis**. *NARP* - **NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)** is a rare mitochondrial disorder caused by mutations in the **MT-ATP6 gene**, leading to energy production deficits. - **Retinitis pigmentosa** is a core feature, contributing to visual impairment, alongside **sensory neuropathy**, **ataxia**, and **developmental delay**. *Abetalipoproteinemia* - This is an **autosomal recessive disorder** characterized by the inability to synthesize **apolipoprotein B**, essential for the formation of chylomicrons and VLDL, leading to severe **malabsorption of fat-soluble vitamins** (A, D, E, K). - Prolonged deficiency of **vitamin E** can result in progressive neurological dysfunction, including **ataxia** and **retinitis pigmentosa**, due to oxidative damage to photoreceptors and nervous tissue.
Question 8: A 30-year-old female presents with a butterfly rash on her face, photosensitivity, and joint pain, and laboratory tests reveal positive antinuclear antibody (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies. What is the most likely diagnosis?
- A. Rheumatoid arthritis
- B. Systemic lupus erythematosus (Correct Answer)
- C. Psoriatic arthritis
- D. Dermatomyositis
Explanation: ***Systemic lupus erythematosus*** - The combination of a **butterfly rash**, **photosensitivity**, **arthralgia**, and positive **ANA** and **anti-dsDNA antibodies** is highly characteristic of systemic lupus erythematosus (SLE) [1]. - **Anti-dsDNA antibodies** are very specific for SLE and correlate with disease activity, especially **renal involvement** [1]. *Rheumatoid arthritis* - While it causes **joint pain**, it typically presents with **symmetrical polyarthritis** affecting small joints and lacks the hallmark skin manifestations like a butterfly rash [1]. - Serologically, **rheumatoid arthritis** is associated with **rheumatoid factor (RF)** and **anti-CCP antibodies**, not anti-dsDNA. *Psoriatic arthritis* - This condition is associated with **psoriasis**, manifesting as **scaly skin patches**, and can cause **arthritis**. - It does not typically present with a **butterfly rash** or the specific autoantibodies (ANA, anti-dsDNA) seen in this patient. *Dermatomyositis* - Characterized by **proximal muscle weakness** and distinct skin rashes such as **heliotrope rash** (purplish discoloration around the eyes) and **Gottron's papules** (reddish-purple papules over knuckles). - While it can involve **photosensitivity**, it does not typically present with a **butterfly rash** [1] or **anti-dsDNA antibodies**.
Question 9: A patient presents with palpitations, weight loss, and lid lag. Labs show low TSH and elevated free T4. Diagnosis?
- A. Thyroid storm
- B. Graves' disease (Correct Answer)
- C. Hashimoto's thyroiditis
- D. Subacute thyroiditis
Explanation: ***Graves' disease*** - The constellation of **palpitations, weight loss, and lid lag** are classic symptoms of **hyperthyroidism** [2], [5]. - **Low TSH with elevated free T4** confirms hyperthyroidism [2], and Graves' disease is the most common cause of **autoimmune hyperthyroidism**, often presenting with these ophthalmic signs [1], [3]. *Thyroid storm* - This is a **life-threatening exacerbation** of hyperthyroidism, characterized by severe symptoms such as **fever, altered mental status, and cardiovascular collapse**, which are not indicated here [4]. - While it has similar lab findings (low TSH, high T4), the clinical presentation is much more severe and acute [4]. *Hashimoto's thyroiditis* - This is an **autoimmune condition** that typically causes **hypothyroidism**, characterized by **elevated TSH** and **low free T4**, the opposite of the given lab results [5]. - Symptoms would include **weight gain, fatigue, and cold intolerance**, not palpitations and weight loss [5]. *Subacute thyroiditis* - This condition often presents with a period of **transient hyperthyroidism** followed by hypothyroidism, typically triggered by a **viral infection** and associated with **painful thyroid palpation** [5]. - While it can cause elevated T4 and low TSH, the prominent lid lag and chronic nature implied by the symptoms usually point away from subacute thyroiditis without a history of neck pain or recent infection [3].
Question 10: Which of the following is NOT associated with erythema nodosum?
- A. Pemphigus vulgaris (Correct Answer)
- B. Tuberculosis
- C. Sarcoidosis
- D. Streptococcal infection
Explanation: ***Pemphigus vulgaris*** - **Pemphigus vulgaris** is an **autoimmune blistering disease** of the skin and mucous membranes, characterized by **flaccid bullae** and erosions, and is **not associated with erythema nodosum**. - Its pathophysiology involves **autoantibodies targeting desmoglein 1 and 3**, leading to acantholysis within the epidermis. *Tuberculosis* - **Tuberculosis** is a well-known infectious cause that can **trigger erythema nodosum**, especially in primary infections. - The inflammatory nodules of erythema nodosum are a **hypersensitivity reaction** to the *Mycobacterium tuberculosis* antigens. *Sarcoidosis* - **Sarcoidosis** is a systemic granulomatous disease frequently associated with **erythema nodosum**, particularly in its acute form (Löfgren's syndrome). - Löfgren's syndrome includes the triad of **erythema nodosum, bilateral hilar lymphadenopathy, and arthritis**. *Streptococcal infection* - **Streptococcal pharyngitis** is one of the **most common infectious triggers** of erythema nodosum, especially in children and young adults. - The condition represents a **delayed hypersensitivity reaction** to streptococcal antigens, typically appearing 2-3 weeks after the initial infection.
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