Rheumatology and Immunology Practice Questions

Q: A 60-year-old man presents with dry eyes and dry mouth. A biopsy of the minor salivary glands shows lymphocytic infiltration. What is the most likely diagnosis?

Sjogren's syndrome. ***Sjogren's syndrome*** - The classic presentation of **dry eyes (xerophthalmia)** and **dry mouth (xerostomia)**, coupled with **lymphocytic infiltration** of minor salivary glands, is highly indicative of Sjogren's syndrome. - This condition is a **chronic autoimmune** disorder primarily affecting exocrine glands. *Rheumatoid arthritis* - While rheumatoid arthritis is an autoimmune condition, its primary manifestations involve **synovitis** of peripheral joints, causing pain, swelling, and stiffness, with systemic dryness being less common as a primary presenting symptom. - Lymphocytic infiltration of salivary glands is not a diagnostic feature of RA. *Systemic lupus erythematosus* - SLE is a multi-system autoimmune disease characterized by a wide range of symptoms including **malaria rash**, **arthritis**, **serositis**, and **renal involvement**. - Although dry eyes and mouth can occur in SLE (secondary Sjogren's), the biopsy finding of predominant lymphocytic infiltration of salivary glands points directly to Sjogren's syndrome as the primary diagnosis. *Sarcoidosis* - Sarcoidosis is a multisystem **granulomatous disease** characterized by non-caseating granulomas in affected organs. - While it can manifest with salivary gland enlargement and sicca symptoms, a biopsy would typically show **granulomatous inflammation** rather than just lymphocytic infiltration.

Q: A 30-year-old male with a history of ankylosing spondylitis presents with severe back pain and restricted chest expansion. What is the most appropriate next step in management?

Biologic therapy targeting TNF-alpha. Biologic therapy targeting TNF-alpha - For patients with active ankylosing spondylitis (AS) with **severe symptoms** and restricted chest expansion despite conventional treatment, **TNF-alpha inhibitors** are highly effective in reducing inflammation and improving function [1]. - This therapy helps to slow disease progression and prevent further structural damage by blocking the **pro-inflammatory cytokine TNF-alpha**. *Long-term NSAID therapy* - While **NSAIDs** are the first-line treatment for pain and stiffness in AS, they may not be sufficient for severe disease or patients with inadequate response. - They primarily manage symptoms and do not typically halt **disease progression** in severe cases. *Disease-modifying antirheumatic drugs (DMARDs)* - Traditional **DMARDs** like methotrexate or sulfasalazine are generally less effective for axial symptoms of AS compared to TNF-alpha inhibitors. - Their primary role is often in treating **peripheral arthritis** associated with AS. *Rehabilitation exercises only* - **Rehabilitation exercises** are crucial for maintaining mobility and posture in AS but are insufficient as a standalone treatment for severe inflammation and restricted chest expansion. - While important for functional outcomes, they cannot address the underlying **inflammatory process** in severe disease.

Q: A 50-year-old man presents with skin thickening, Raynaud's phenomenon, and gastroesophageal reflux disease (GERD). Laboratory results show positive autoantibodies associated with connective tissue diseases. What is the likely diagnosis?

Scleroderma (systemic sclerosis). ***Scleroderma*** - The combination of **skin thickening**, **Raynaud's phenomenon**, and **positive anti-Scl-70 antibodies** is characteristic of scleroderma, particularly diffuse scleroderma [1]. - Associated gastrointestinal symptoms like **gastroesophageal reflux disease (GERD)** are common in scleroderma due to esophageal motility issues [1]. *Systemic lupus erythematosus* - SLE typically presents with a **butterfly rash**, **joint symptoms**, and diverse systemic involvement, none of which are primary features here. - The presence of **anti-Scl-70 antibodies** is not characteristic of SLE but rather specific for scleroderma. *Dermatomyositis* - Characterized by **muscle weakness** and **skin rashes** (heliotrope rash), which are absent in this scenario. - Usually linked with **anti-Jo-1 antibodies**, making it distinct from the findings here. *Sjogren syndrome* - Primarily presents with **dry eyes** and **dry mouth**, and typically lacks significant skin changes or Raynaud's phenomenon. - Autoantibodies like **anti-Ro (SSA)** are more commonly seen in Sjogren syndrome rather than anti-Scl-70.

Q: A 50-year-old male presents with chronic back pain and a progressive stooped posture. X-rays reveal vertebral squaring and syndesmophytes. What is the most likely diagnosis?

Ankylosing Spondylitis. ***Ankylosing Spondylitis*** - **Ankylosing spondylitis** is characterized by chronic back pain and progressive spinal stiffness, leading to a **stooped posture** [1]. - **Vertebral squaring** (loss of the normal anterior concavity of vertebral bodies) and **syndesmophytes** (bony growths forming between vertebrae) are classic radiographic findings [1], [2]. *Osteoarthritis* - **Osteoarthritis** typically involves mechanical pain that worsens with activity and improves with rest, often in weight-bearing joints [3]. - Radiographic findings include **osteophytes**, **joint space narrowing**, and **subchondral sclerosis**, rather than vertebral squaring and syndesmophytes. *Rheumatoid arthritis* - **Rheumatoid arthritis** primarily affects peripheral joints symmetrically, leading to inflammation and destruction; it rarely affects the axial spine significantly, other than the C1-C2 joint. - It is associated with **morning stiffness** lasting over 30 minutes and a positive **rheumatoid factor** or **anti-CCP antibodies**. *Degenerative disc disease* - **Degenerative disc disease** involves alterations in the intervertebral discs, leading to back pain, but typically does not cause vertebral squaring or syndesmophytes. - Radiographic features often include **disc space narrowing** and vacuum phenomenon, without the characteristic bony bridging seen in ankylosing spondylitis [1].

Q: A patient presents with Raynaud's phenomenon and diffuse skin thickening. Antibody testing reveals anti-Scl-70 antibodies. What is the most likely diagnosis?

Systemic sclerosis. Systemic sclerosis - The combination of **Raynaud's phenomenon**, **diffuse skin thickening**, and the presence of **anti-Scl-70 antibodies** is highly characteristic of diffuse cutaneous systemic sclerosis. T lymphocytes infiltrate the skin and there is abnormal fibroblast activation, resulting in symmetrical thickening and tightening of the skin [1]. - **Anti-Scl-70 antibodies** (also known as **anti-topoisomerase I**) are a specific marker for systemic sclerosis, particularly the diffuse form, and are associated with a higher risk of **interstitial lung disease** and **scleroderma renal crisis**. *Systemic lupus erythematosus* - While **Raynaud's phenomenon** can occur in SLE, **diffuse skin thickening** as described is not a primary feature; skin manifestations in SLE include **malar rash**, **discoid rash**, and **photosensitivity**. Patients with active SLE almost always test positive for ANA [2]. - **Anti-Scl-70 antibodies** are not typically found in SLE; hallmark antibodies for SLE include **anti-dsDNA** and **anti-Sm antibodies** [2]. *Dermatomyositis* - Characterized by **proximal muscle weakness** and distinctive skin rashes like **Gottron's papules** and the **heliotrope rash**, not diffuse skin thickening. - Associated autoantibodies include **anti-Jo-1**, **anti-MDA5**, and **anti-TIF1γ**, not anti-Scl-70. *Rheumatoid arthritis* - Primarily affects the **synovial joints**, causing symmetrical polyarthritis, and does not typically involve significant skin thickening or Raynaud's phenomenon as a dominant feature [3]. - Associated with **rheumatoid factor (RF)** and **anti-cyclic citrullinated peptide (anti-CCP) antibodies**, not anti-Scl-70.

Q: Which condition is characterized by the triad of arthritis, urethritis, and conjunctivitis?

Reiter’s syndrome. ***Reiter’s syndrome*** - **Reiter's syndrome** is classically defined by the triad of **arthritis**, **urethritis**, and **conjunctivitis**, often following a genitourinary or gastrointestinal infection [1]. - It is currently referred to as **reactive arthritis**, emphasizing its post-infectious nature, though the classic triad remains a key diagnostic feature [3]. *Systemic lupus erythematosus* - **Systemic lupus erythematosus (SLE)** is a chronic autoimmune disease with diverse manifestations, including fatigue, skin rashes (e.g., **malar rash**), arthritis, and kidney involvement [2]. - While arthritis can occur in SLE, urethritis and conjunctivitis are not part of its defining diagnostic criteria or classic presentation. *Rheumatoid arthritis* - **Rheumatoid arthritis (RA)** is characterized by symmetrical polyarthritis, primarily affecting the small joints of the hands and feet, leading to joint destruction and deformity [4]. - Conjunctivitis and urethritis are not primary features of RA, although **Sjögren's syndrome** (which can cause dry eyes) may co-occur as a secondary condition. *Sjögren's syndrome* - **Sjögren's syndrome** is a chronic autoimmune disease characterized by lymphocytic infiltration of exocrine glands, leading to dry eyes (**keratoconjunctivitis sicca**) and dry mouth (**xerostomia**). - While it causes conjunctivitis due to dryness, it does not typically involve urethritis or arthritis as part of its primary triad.

Q: A 28-year-old woman presents with fever, weight loss, and night sweats. She has a history of painful oral and genital ulcers. Which test is most likely to confirm the diagnosis?

Pathergy test. ***Pathergy test*** - The Pathergy test is a characteristic, although not universally positive, **skin hypersensitivity reaction** seen in Behçet's disease, which is highly suggested by the patient's presentation of recurrent oral and genital ulcers, along with systemic symptoms like fever, weight loss, and night sweats [1]. - A **positive Pathergy test** involves the development of a papule or pustule 24-48 hours after an oblique skin prick with a sterile needle, reflecting a nonspecific hyperreactivity of the skin. *HLA-B27* - **HLA-B27** is primarily associated with **spondyloarthropathies** such as ankylosing spondylitis, reactive arthritis, and psoriatic arthritis, which do not typically present with painful oral and genital ulcers. - Its presence would not specifically confirm a diagnosis of Behçet's disease, which has a distinct clinical presentation. *ANA* - **Antinuclear antibodies (ANA)** are a hallmark of **systemic lupus erythematosus (SLE)** and other autoimmune connective tissue diseases [2]. - While SLE can cause oral ulcers, genital ulcers are less common, and the overall clinical picture with fever, weight loss, and night sweats, along with recurrent oral and genital ulcers, is more indicative of Behçet's disease than SLE. *Anti-dsDNA* - **Anti-double-stranded DNA (anti-dsDNA)** antibodies are highly specific for **systemic lupus erythematosus (SLE)** and are often associated with lupus nephritis [3]. - While SLE can cause fever and weight loss, and rarely oral ulcers, the classic triad of recurrent oral and genital ulcers along with systemic symptoms strongly points away from SLE and towards Behçet's disease.

Q: A 33-year-old man presents with an erythematous rash on his cheeks and nose that worsens with sun exposure. What is the most likely diagnosis?

Systemic lupus erythematosus. ***Systemic lupus erythematosus*** - The presentation of an **erythematous rash** on the cheeks and nose that **worsens with sun exposure** is highly characteristic of the **malar rash** commonly seen in systemic lupus erythematosus (SLE) [1]. - SLE is an **autoimmune disease** with diverse manifestations, and photosensitivity is a common feature [1], [2]. *Psoriasis* - Characterized by **well-demarcated, silvery scales** on erythematous plaques, typically on extensor surfaces, the scalp, and nails. - While sun exposure can sometimes trigger or alleviate psoriasis, the described rash (malar distribution, photosensitivity) is not typical. *Seborrheic dermatitis* - Causes a **greasy, scaly rash** predominantly in areas rich in sebaceous glands, such as the scalp, eyebrows, and nasolabial folds. - It does not typically present as a photosensitive malar rash. *Rosacea* - Characterized by **facial erythema**, **telangiectasias**, papules, and pustules, often affecting the cheeks, nose, and forehead [2]. - While rosacea can be worsened by sun exposure, the described rash (often butterfly-shaped) and its strong association with photosensitivity in this context are more indicative of SLE.

Q: A 65-year-old woman with a history of polymyalgia rheumatica presents with new-onset headache and jaw claudication. Her ESR is elevated. What is the most appropriate next step?

Start high-dose corticosteroids. ***Start high-dose corticosteroids*** - The patient's symptoms of **new-onset headache** and **jaw claudication** in the setting of polymyalgia rheumatica and **elevated ESR** are highly suggestive of **giant cell arteritis (GCA)** [1]. - **Prompt initiation of high-dose corticosteroids** is crucial to prevent irreversible complications such as **blindness**, despite awaiting confirmatory tests [1]. *Obtain temporal artery biopsy* - While a **temporal artery biopsy** is the gold standard for confirming GCA, treatment should not be delayed while awaiting the biopsy, as vision loss can occur rapidly [1]. - The biopsy should be performed within **two weeks** of starting steroid treatment, as it can still show diagnostic features. *Perform brain MRI* - A **brain MRI** is generally not indicated as the initial diagnostic step for suspected GCA. - It might be considered if there are atypical neurological symptoms or concerns for other central nervous system pathologies, but it won't diagnose GCA directly. *Measure C-reactive protein* - **C-reactive protein (CRP)** is an inflammatory marker that would likely be elevated, similar to ESR, but it does not provide additional specific diagnostic information to warrant delaying empiric treatment. - Both ESR and CRP confirm inflammation but do not distinguish GCA from other inflammatory conditions definitively [1].

Q: A 55-year-old woman presents with widespread pain, fatigue, and sleep disturbances. Physical examination reveals multiple tender points. What is the most likely diagnosis?

Fibromyalgia. ***Fibromyalgia*** - The classic presentation of **widespread pain**, **fatigue**, **sleep disturbances**, and **multiple tender points** is characteristic of fibromyalgia [1]. - Diagnosis is primarily clinical, based on these symptoms and the exclusion of other conditions [1]. *Rheumatoid arthritis* - Characterized by **inflammatory arthritis** affecting primarily small joints, with swelling, morning stiffness, and systemic symptoms, but not widespread tender points as the primary feature [2]. - Laboratory tests often show elevated **ESR/CRP**, positive **rheumatoid factor (RF)**, and **anti-CCP antibodies**. *Systemic lupus erythematosus* - A multisystem autoimmune disease with varied manifestations, including rash, arthritis, serositis, and renal involvement, but not typically widespread tender points as the predominant symptom. - Associated with positive **antinuclear antibodies (ANA)**, DNA antibodies, and other autoantibodies. *Osteoarthritis* - A degenerative joint disease often affecting weight-bearing joints, characterized by **joint pain** that worsens with activity and improves with rest, typically without significant systemic symptoms or widespread tender points [2]. - Physical exam may reveal **crepitus** and limited range of motion, and X-rays show joint space narrowing and osteophytes.

Question 1

A 60-year-old man presents with dry eyes and dry mouth. A biopsy of the minor salivary glands shows lymphocytic infiltration. What is the most likely diagnosis?

Accepted Answer

Sjogren's syndrome

Answer

Rheumatoid arthritis

Answer

Systemic lupus erythematosus

Answer

Sarcoidosis

Question 2

A 30-year-old male with a history of ankylosing spondylitis presents with severe back pain and restricted chest expansion. What is the most appropriate next step in management?

Accepted Answer

Biologic therapy targeting TNF-alpha

Answer

Long-term NSAID therapy

Answer

Disease-modifying antirheumatic drugs (DMARDs)

Answer

Rehabilitation exercises only

Question 3

A 50-year-old man presents with skin thickening, Raynaud's phenomenon, and gastroesophageal reflux disease (GERD). Laboratory results show positive autoantibodies associated with connective tissue diseases. What is the likely diagnosis?

Accepted Answer

Scleroderma (systemic sclerosis)

Answer

Dermatomyositis (inflammatory myopathy)

Answer

Sjogren's syndrome (autoimmune condition)

Answer

Systemic lupus erythematosus (SLE)

Question 4

A 50-year-old male presents with chronic back pain and a progressive stooped posture. X-rays reveal vertebral squaring and syndesmophytes. What is the most likely diagnosis?

Accepted Answer

Ankylosing Spondylitis

Answer

Osteoarthritis

Answer

Rheumatoid arthritis

Answer

Degenerative disc disease

Question 5

A patient presents with Raynaud's phenomenon and diffuse skin thickening. Antibody testing reveals anti-Scl-70 antibodies. What is the most likely diagnosis?

Accepted Answer

Systemic sclerosis

Answer

Systemic lupus erythematosus

Answer

Dermatomyositis

Answer

Rheumatoid arthritis

Question 6

Which condition is characterized by the triad of arthritis, urethritis, and conjunctivitis?

Accepted Answer

Reiter’s syndrome

Answer

Systemic lupus erythematosus

Answer

Rheumatoid arthritis

Answer

Sjögren's syndrome

Question 7

A 28-year-old woman presents with fever, weight loss, and night sweats. She has a history of painful oral and genital ulcers. Which test is most likely to confirm the diagnosis?

Accepted Answer

Pathergy test

Answer

HLA-B27

Answer

ANA

Answer

Anti-dsDNA

Question 8

A 33-year-old man presents with an erythematous rash on his cheeks and nose that worsens with sun exposure. What is the most likely diagnosis?

Accepted Answer

Systemic lupus erythematosus

Answer

Psoriasis

Answer

Seborrheic dermatitis

Answer

Rosacea

Question 9

A 65-year-old woman with a history of polymyalgia rheumatica presents with new-onset headache and jaw claudication. Her ESR is elevated. What is the most appropriate next step?

Accepted Answer

Start high-dose corticosteroids

Answer

Obtain temporal artery biopsy

Answer

Perform brain MRI

Answer

Measure C-reactive protein

Question 10

A 55-year-old woman presents with widespread pain, fatigue, and sleep disturbances. Physical examination reveals multiple tender points. What is the most likely diagnosis?

Accepted Answer

Fibromyalgia

Answer

Rheumatoid arthritis

Answer

Systemic lupus erythematosus

Answer

Osteoarthritis

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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