Rheumatology and Immunology Practice Questions

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 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.

Q: A 55-year-old male presents with a painful right big toe, and his serum uric acid levels are high. Which drug is most appropriate to prevent further gout attacks?

Allopurinol. ***Allopurinol*** - **Allopurinol** is a **xanthine oxidase inhibitor** that reduces the production of uric acid, thereby lowering serum uric acid levels and preventing future gout attacks [1], [2]. - It is the most commonly prescribed **urate-lowering therapy (ULT)** for **prophylaxis** of recurrent gout [2]. *Metformin* - **Metformin** is an **oral hypoglycemic agent** used to treat **type 2 diabetes mellitus** by decreasing hepatic glucose production and increasing insulin sensitivity. - It has no role in the management or prevention of gout. *Atorvastatin* - **Atorvastatin** is an **HMG-CoA reductase inhibitor** (statin) used to lower **cholesterol** and **triglyceride levels** in patients with hyperlipidemia. - It does not impact uric acid metabolism or gout. *Propranolol* - **Propranolol** is a **non-selective beta-blocker** used to treat conditions such as **hypertension**, angina, and arrhythmias. - It has no effect on uric acid levels or the prevention of gout attacks.

Q: A 30-year-old male presents with back pain and morning stiffness. An X-ray of the lumbar spine shows a bamboo spine appearance. What is the most likely diagnosis?

Ankylosing spondylitis. ***Ankylosing spondylitis*** - The combination of **back pain**, **morning stiffness** in a young male, and especially the characteristic **bamboo spine appearance** on X-ray, is pathognomonic for ankylosing spondylitis. - The bamboo spine results from calcification of the **annulus fibrosus** and vertebral ligaments, leading to fusion of vertebral bodies. *Osteoarthritis* - This condition typically affects older individuals and presents with pain that **worsens with activity** and improves with rest, unlike the morning stiffness seen here. - X-rays in osteoarthritis show **osteophytes**, joint space narrowing, and subchondral sclerosis, not the diffuse spinal fusion of bamboo spine. *Degenerative disc disease* - Common in older adults, it involves the **deterioration of intervertebral discs**, leading to pain that can be exacerbated by movement. - While disc space narrowing and osteophyte formation can be seen, it does not typically result in the widespread **fusion** characteristic of a bamboo spine. *Spinal stenosis* - This is a narrowing of the spinal canal, often caused by **degenerative changes**, disc herniation, or thickened ligaments. - Symptoms include **neurogenic claudication** (leg pain that worsens with walking and improves with sitting), and X-rays show features of central canal narrowing rather than diffuse vertebral fusion.

Q: 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?

Interstitial lung disease. ***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.

Q: A 50-year-old woman with a history of dry eyes and mouth presents with bilateral parotid gland swelling. Which autoantibody is most specific for her condition?

Anti-La/SSB. ***Anti-La/SSB*** - While both **anti-Ro/SSA** and **anti-La/SSB** are characteristic of Sjögren's syndrome, **anti-La/SSB** is considered more specific. - The combination of **dry eyes (xerophthalmia)** and **dry mouth (xerostomia)**, along with parotid gland swelling, strongly indicates Sjögren's syndrome. *Anti-Ro/SSA* - **Anti-Ro/SSA** antibodies are frequently found in Sjögren's syndrome, but also in other autoimmune diseases like **systemic lupus erythematosus (SLE)**, making them less specific [1]. - A positive anti-Ro/SSA can also be associated with **neonatal lupus** and **subacute cutaneous lupus erythematosus** [1]. *ANA* - **Antinuclear antibodies (ANA)** are a common finding in many autoimmune diseases, including Sjögren's syndrome, but they are not specific for this condition [1]. - A positive ANA simply indicates the presence of an autoimmune process and requires further specific antibody testing [1]. *RF* - **Rheumatoid factor (RF)** is primarily associated with **rheumatoid arthritis** and can also be found in other autoimmune diseases or even healthy individuals. - It is not specific for Sjögren's syndrome, though it may be positive in some patients with Sjögren's (secondary Sjögren's associated with RA).

Q: A 40-year-old man presents with severe pain and redness in his right great toe after a night of heavy drinking. Synovial fluid analysis shows negatively birefringent crystals. What is the most likely diagnosis?

Gout. ***Gout*** - The sudden onset of **severe pain** and **redness** in the **great toe (podagra)**, especially after a night of **heavy drinking**, is highly characteristic of an acute gout attack [2]. - The finding of **negatively birefringent crystals** (uric acid crystals) in the synovial fluid is the **gold standard for diagnosing gout** [1]. *Rheumatoid arthritis* - This condition typically affects **multiple small joints symmetrically**, particularly of the hands and feet, rather than a single joint like the great toe in an acute, isolated episode. - Synovial fluid in rheumatoid arthritis would show **inflammatory changes** but not negatively birefringent crystals. *Pseudogout* - Pseudogout, caused by **calcium pyrophosphate dihydrate (CPPD) crystals**, often presents acutely with inflammation, but these crystals would be **positively birefringent** in synovial fluid analysis [1]. - While it can affect the great toe, it more commonly involves larger joints like the **knee** [3]. *Septic arthritis* - Although septic arthritis can cause acute, severe pain and redness in a single joint, synovial fluid analysis would reveal a **high white blood cell count** with a predominance of **neutrophils** and a **positive Gram stain/culture** for bacteria, not crystals. - A definitive diagnosis would require culturing the synovial fluid.

Q: A 55-year-old female presents with progressive skin tightening, difficulty swallowing, and dry eyes. Which of the following tests would be most supportive of a diagnosis of systemic sclerosis?

Presence of anti-Scl-70 antibodies. Presence of anti-Scl-70 antibodies - **Anti-Scl-70 antibodies** (topoisomerase I) are highly specific for **diffuse systemic sclerosis** and correlate with more severe disease, including lung fibrosis and skin involvement. - The patient's symptoms of **progressive skin tightening** and **difficulty swallowing** are characteristic of systemic sclerosis, making this antibody a strong indicator [1]. *ANA titer and pattern results* - While a **positive ANA** is almost universally present in systemic sclerosis, it is **not specific** enough for diagnosis on its own, as it can be positive in many other autoimmune conditions [1]. - The **pattern** (e.g., nucleolar or speckled) may suggest systemic sclerosis, but additional specific antibodies are needed for confirmation. *Presence of anti-RNP antibodies* - **Anti-RNP antibodies** are primarily associated with **mixed connective tissue disease (MCTD)**, which shares features of systemic sclerosis, lupus, and polymyositis [1]. - While some scleroderma patients may have positive anti-RNP, it's not the most definitive marker for systemic sclerosis specifically. *Presence of anti-centromere antibodies* - **Anti-centromere antibodies** are highly specific for **limited cutaneous systemic sclerosis (CREST syndrome)**, which typically presents with less extensive skin involvement and a more benign course than diffuse systemic sclerosis. - The patient's **progressive skin tightening** suggests a more diffuse form rather than limited.

Q: A 50-year-old woman presents with a malar rash, arthritis, and proteinuria. Which autoantibody is most specific for her condition?

Anti-Smith. ***Anti-Smith*** - **Anti-Smith antibodies** are highly specific for **Systemic Lupus Erythematosus (SLE)**, reflecting the diagnosis suggested by the patient's symptoms (malar rash, arthritis, proteinuria) [1]. - While not as sensitive as ANA, their presence is almost diagnostic for SLE, especially in conjunction with the characteristic **renal involvement (proteinuria)** [1]. *Anti-dsDNA* - **Anti-dsDNA antibodies** are also highly specific for **SLE** and are often associated with **lupus nephritis**, but they are not considered *more* specific than anti-Smith antibodies for diagnosis overall [2]. - The level of anti-dsDNA antibodies can fluctuate with disease activity, making them useful for monitoring, but anti-Smith is considered the most specific for establishing the diagnosis [1]. *Anti-Ro* - **Anti-Ro antibodies** (also known as antibodies to **SS-A**) are commonly associated with **Sjögren's syndrome** and **subacute cutaneous lupus erythematosus**, as well as neonatal lupus [1], [3]. - While they can be found in SLE, they are not specific enough to diagnose the condition suggested by the patient's combination of symptoms. *Anti-centromere* - **Anti-centromere antibodies** are highly specific for the **limited cutaneous form of systemic sclerosis (CREST syndrome)**. - This antibody is not typically associated with the common manifestations of SLE presented by the patient, such as a malar rash or proteinuria.

Q: A 57-year-old man presents with bilateral hand joint pain and stiffness for the past six months. His hands appear swollen and red. Which of the following tests is the most specific for the suspected diagnosis?

Anti-CCP. ***Anti-CCP*** - **Anti-cyclic citrullinated peptide (anti-CCP)** antibodies are highly specific for **rheumatoid arthritis (RA)**, even in its early stages. - The presentation of bilateral hand joint pain and stiffness with swelling and redness is classic for RA, making anti-CCP the most useful test for confirmation [1]. *ANA* - **Antinuclear antibodies (ANA)** are associated with various **autoimmune diseases**, notably systemic lupus erythematosus, making it non-specific for rheumatoid arthritis alone. - While ANA can be positive in a subset of RA patients, its presence does not specifically point to RA over other autoimmune conditions. *RF* - **Rheumatoid factor (RF)** is positive in about 80% of RA patients but can also be positive in other conditions such as chronic infections, other autoimmune diseases (e.g., Sjögren's syndrome), and even in healthy individuals, especially the elderly, making it less specific than anti-CCP [1]. - Although useful for diagnosis and prognosis, its lower specificity means it alone cannot definitively confirm rheumatoid arthritis. *ESR* - **Erythrocyte sedimentation rate (ESR)** is a general marker of **inflammation** and elevated in many inflammatory conditions, including infections, malignancies, and various autoimmune diseases. - While often elevated in rheumatoid arthritis, it is not specific to the disease and only indicates general inflammation [1].

Question 1

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 2

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

Question 3

A 55-year-old male presents with a painful right big toe, and his serum uric acid levels are high. Which drug is most appropriate to prevent further gout attacks?

Accepted Answer

Allopurinol

Answer

Metformin

Answer

Atorvastatin

Answer

Propranolol

Question 4

A 30-year-old male presents with back pain and morning stiffness. An X-ray of the lumbar spine shows a bamboo spine appearance. What is the most likely diagnosis?

Accepted Answer

Ankylosing spondylitis

Answer

Osteoarthritis

Answer

Degenerative disc disease

Answer

Spinal stenosis

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?

Accepted Answer

Interstitial lung disease

Answer

Cardiomyopathy

Answer

Renal failure

Answer

Peripheral neuropathy

Question 6

A 50-year-old woman with a history of dry eyes and mouth presents with bilateral parotid gland swelling. Which autoantibody is most specific for her condition?

Accepted Answer

Anti-La/SSB

Answer

ANA

Answer

RF

Answer

Anti-Ro/SSA

Question 7

A 40-year-old man presents with severe pain and redness in his right great toe after a night of heavy drinking. Synovial fluid analysis shows negatively birefringent crystals. What is the most likely diagnosis?

Accepted Answer

Gout

Answer

Rheumatoid arthritis

Answer

Pseudogout

Answer

Septic arthritis

Question 8

A 55-year-old female presents with progressive skin tightening, difficulty swallowing, and dry eyes. Which of the following tests would be most supportive of a diagnosis of systemic sclerosis?

Accepted Answer

Presence of anti-Scl-70 antibodies

Answer

ANA titer and pattern results

Answer

Presence of anti-RNP antibodies

Answer

Presence of anti-centromere antibodies

Question 9

A 50-year-old woman presents with a malar rash, arthritis, and proteinuria. Which autoantibody is most specific for her condition?

Accepted Answer

Anti-Smith

Answer

Anti-Ro

Answer

Anti-centromere

Answer

Anti-dsDNA

Question 10

A 57-year-old man presents with bilateral hand joint pain and stiffness for the past six months. His hands appear swollen and red. Which of the following tests is the most specific for the suspected diagnosis?

Accepted Answer

Anti-CCP

Answer

ANA

Answer

RF

Answer

ESR

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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