Rheumatology and Immunology Practice Questions

Q: A 30-year-old man presents with a history of migratory arthritis, carditis, and erythema marginatum. What is the most likely diagnosis?

Rheumatic fever. ***Rheumatic fever*** - This diagnosis aligns perfectly with the classic presentation of **migratory arthritis**, **carditis**, and **erythema marginatum**, which are major criteria for rheumatic fever (Jones criteria) [1]. - Its etiology is typically a delayed, non-suppurative complication of a Group A beta-hemolytic streptococcal infection [1]. *Rheumatoid arthritis* - Characterized by **symmetric polyarthritis** primarily affecting small joints, prolonged morning stiffness, and can have systemic manifestations [2]. - While it can involve multiple joints, it doesn't typically present with a **migratory pattern** or **erythema marginatum**. *Systemic lupus erythematosus* - A multisystem autoimmune disease that can cause arthritis, serositis, and skin manifestations like the **malar rash** [3]. - However, **erythema marginatum** is not a typical skin finding, and its arthritis is usually non-erosive and non-deforming. *Psoriatic arthritis* - Associated with **psoriasis** and can present with various forms of arthritis, including oligoarthritis, polyarthritis, and spondyloarthritis. - It does not present with **carditis** or **erythema marginatum**, which are key features in the question.

Q: A 29-year-old man presents with recurrent oral ulcers, uveitis, and arthritis. Which HLA subtype is most commonly associated with his condition?

HLA-B51. ***HLA-B51*** - The constellation of **recurrent oral ulcers**, **uveitis**, and **arthritis** in a young man is highly suggestive of **Behçet's disease**. - **HLA-B51** is the most strongly associated genetic marker with Behçet's disease, particularly in patients of Middle Eastern, Mediterranean, and East Asian descent. *HLA-B27* - **HLA-B27** is primarily associated with **seronegative spondyloarthropathies**, such as **ankylosing spondylitis** and **reactive arthritis** [1]. - While uveitis can occur in these conditions, recurrent oral ulcers are not a prominent feature, and the overall clinical picture doesn't fit Behçet's disease [1]. *HLA-DR4* - **HLA-DR4** is most strongly linked to **rheumatoid arthritis**, a chronic inflammatory condition primarily affecting joints. - Ocular involvement in rheumatoid arthritis typically manifests as **scleritis** or **episcleritis**, and recurrent oral ulcers are not a characteristic symptom. *HLA-DR3* - **HLA-DR3** is associated with several autoimmune diseases, including **systemic lupus erythematosus (SLE)**, **Sjögren's syndrome**, and **Type 1 diabetes** [2]. - While SLE can cause oral ulcers and arthritis, uveitis is less common, and Sjögren's primarily causes sicca symptoms.

Q: Which of the following is the most appropriate initial treatment for a patient with newly diagnosed rheumatoid arthritis (RA)?

Methotrexate. Methotrexate - **Methotrexate** is considered the **first-line disease-modifying anti-rheumatic drug (DMARD)** for newly diagnosed RA due to its proven efficacy and favorable safety profile [1]. - It works by **inhibiting folate metabolism**, leading to anti-inflammatory and immunosuppressive effects that slow disease progression [1]. Infliximab - **Infliximab** is a **biologic DMARD** (TNF-alpha inhibitor) typically reserved for patients who have had an inadequate response to conventional DMARDs like methotrexate [1]. - Its use as initial therapy is generally not recommended due to higher cost and potential for serious side effects, unless specific severe presentations or contraindications to conventional DMARDs exist [1]. Hydroxychloroquine - **Hydroxychloroquine** is a milder DMARD, often used for **mild RA** or in combination with other DMARDs. - It is generally not considered the most appropriate initial monotherapy for newly diagnosed RA due to its **slower onset of action** and less potent effect compared to methotrexate. Prednisone - **Prednisone** is a **corticosteroid** used for short-term relief of acute RA symptoms due to its potent anti-inflammatory effects [1]. - While effective for symptom control, it does not alter the underlying disease progression and is associated with significant long-term side effects, making it unsuitable as a long-term initial monotherapy for RA.

Q: A 55-year-old man develops severe pain and swelling in his knee over the past 24 hours. His knee is erythematous and warm. Arthrocentesis reveals negatively birefringent needle-shaped crystals. What is the most likely diagnosis?

Gout. **Gout** - The presence of **negatively birefringent needle-shaped crystals** in joint fluid is pathognomonic for **gout** [1]. - **Acute onset** of severe pain, swelling, erythema, and warmth in a single joint, such as the knee, are classic symptoms of an acute gout attack [2]. *Pseudogout* - Characterized by the presence of **positively birefringent rhomboid-shaped crystals**, which are calcium pyrophosphate dihydrate (CPPD) crystals, not negatively birefringent needle-shaped crystals [1]. - While it can present with acute joint inflammation similar to gout, the crystal morphology in the joint fluid is distinct. *Rheumatoid arthritis* - Typically presents as a **chronic, symmetric polyarthritis** affecting smaller joints, and rarely causes acute monoarticular inflammation of this severity. - Joint fluid analysis in rheumatoid arthritis would show inflammatory changes but not specific crystals like those described. *Septic arthritis* - While septic arthritis can cause acute, severe joint pain and inflammation, joint fluid analysis would reveal a **high white blood cell count** with a predominance of neutrophils and **positive bacterial cultures**, but not crystals. - The crucial finding of negatively birefringent needle-shaped crystals rules out septic arthritis as the primary diagnosis.

Q: A 40-year-old man presents with a history of hypertension and episodes of abdominal pain. Angiography reveals multiple aneurysms in the renal arteries. What is the most likely diagnosis?

Polyarteritis nodosa. Polyarteritis nodosa - This systemic vasculitis is characterized by necrotizing inflammation of medium-sized arteries, often leading to aneurysm formation and organ ischemia [1]. - Renal artery involvement, manifesting as multiple aneurysms and resulting in hypertension and abdominal pain, is highly characteristic of this condition. Takayasu arteritis - This condition primarily affects large arteries, particularly the aorta and its major branches, leading to stenosis and occlusion, not multiple aneurysms in the renal arteries. - It typically presents in younger females and is often associated with symptoms of reduced pulse and claudication in the limbs. Kawasaki disease - This is an acute vasculitis of childhood primarily affecting medium-sized arteries, notably the coronary arteries, leading to aneurysms [1]. - It is unlikely in a 40-year-old and presents with a distinct clinical picture including fever, rash, conjunctivitis, and mucositis [1]. Granulomatosis with polyangiitis - This is a small vessel vasculitis characterized by granulomatous inflammation of the respiratory tract and glomerulonephritis, often associated with c-ANCA antibodies. - While it can affect the kidneys, it typically causes vasculitic lesions and glomerulonephritis, not multiple macroscopic aneurysms in the renal arteries [2].

Q: A 40-year-old female presents with progressive difficulty in combing her hair and climbing stairs. Physical examination reveals proximal muscle weakness. What is the most likely diagnosis?

Dermatomyositis. ***Dermatomyositis*** - **Proximal muscle weakness**, manifesting as difficulty combing hair (shoulders) and climbing stairs (hips), is a hallmark feature of **dermatomyositis** and other inflammatory myopathies [1]. - While the question doesn't state it, this condition would also be associated with characteristic **skin rashes** (e.g., heliotrope rash, Gottron's papules) [1]. *Myasthenia gravis* - Presents with **fluctuating weakness** that worsens with activity and improves with rest, often affecting ocular and bulbar muscles first. - Muscle weakness is due to **autoantibodies against acetylcholine receptors** at the neuromuscular junction, not direct muscle inflammation. *Guillain-Barre syndrome* - Characterized by **ascending paralysis** and **areflexia**, typically triggered by an infection. - The weakness is usually acute and progressive over days to weeks, not specifically limited to proximal muscles. *Multiple sclerosis* - A **demyelinating disease** of the central nervous system, leading to varied neurological symptoms such including weakness, sensory disturbances, and vision problems. - Weakness can be present but is often associated with other neurological deficits and is not typically isolated to progressive, symmetrical proximal weakness as the primary presenting symptom.

Q: A 55-year-old man with a history of gout presents with a sudden onset of severe pain in the big toe. What is the best initial treatment?

Colchicine. **Colchicine** - **Colchicine** is effective in treating acute gout flares when administered promptly, ideally within 24-36 hours of symptom onset. - It works by **inhibiting neutrophil migration** and activity, reducing inflammation in the affected joint. *Allopurinol* - **Allopurinol** is a xanthine oxidase inhibitor used for **long-term management** of gout by reducing uric acid production [1]. - It is generally **not recommended during an acute gout flare** as it can potentially worsen the attack by rapidly altering serum urate levels [1]. *Probenecid* - **Probenecid** is a uricosuric agent used for **long-term prevention** of gout attacks by increasing renal excretion of uric acid [1]. - Like allopurinol, it is **contraindicated during an acute gout attack** as it can exacerbate symptoms [1]. *Indomethacin* - While **Indomethacin**, a non-steroidal anti-inflammatory drug (NSAID), is an appropriate treatment for acute gout, it is not listed as the "best initial treatment" in this option set, as **colchicine** is also a first-line option [1]. - NSAIDs work by **reducing inflammation** and pain, but they may have contraindications such as renal insufficiency or gastrointestinal bleeding risk. *Overview of Pathophysiology* - Gout is characterized by recurrent attacks of arthritis and elevated uric acid levels, commonly affecting the metatarsophalangeal joint of the great toe [2].

Q: A 30-year-old male presents with digital infarcts involving the 2nd and 3rd fingers on the right side and the 5th finger on the left side. His blood pressure is 160/140 mm Hg. What is the likely diagnosis?

Systemic sclerosis. ***Systemic sclerosis*** - **Scleroderma renal crisis** can cause very high blood pressures like 160/140 mmHg and lead to **digital infarcts** due to vasculopathy [1]. - The patient's age and widespread digital infarcts are also consistent with the microvascular involvement seen in systemic sclerosis [1]. *Polyarteritis nodosa* - This is a **necrotizing vasculitis** of medium-sized arteries, often causing **abdominal pain**, **neuropathy**, and **renal involvement**, but digital infarcts are less typical than in scleroderma [1]. - While it can cause hypertension, the severity and pattern of digital infarcts are less characteristic when compared to scleroderma renal crisis. *Takayasu arteritis* - This is a **large-vessel vasculitis** primarily affecting the aorta and its major branches, leading to **claudication**, **pulse deficits**, and **hypertension**. - Digital infarcts are not a common feature of Takayasu arteritis, as it mainly affects larger vessels, not typically the small digital arteries. *Buerger's disease* - Primarily affects **small and medium-sized arteries and veins** in the extremities, almost exclusively in **heavy smokers**, leading to **digital ischemia** and excruciating pain. - While it causes digital infarcts, the extreme hypertension described (160/140 mmHg) is not a typical feature of Buerger's disease, which is more localized.

Q: In a patient with a history of chronic back pain and morning stiffness that improves with exercise, which radiographic finding is characteristic of ankylosing spondylitis?

Syndesmophytes. ***Syndesmophytes*** - **Syndesmophytes** are characteristic radiographic findings in ankylosing spondylitis, representing ossification within the **annulus fibrosus** and along the outer fibers of the intervertebral disc [1]. - Their presence indicates active disease processes leading to **bony fusion** of vertebrae, contributing to spinal stiffness [1]. *Osteophytes (associated with osteoarthritis)* - **Osteophytes** are bony spurs that form at the margins of joints, primarily associated with **osteoarthritis** due to degenerative changes. - Unlike **syndesmophytes**, they are not specific to inflammatory conditions like ankylosing spondylitis and are typically unilateral and not vertically oriented [1]. *Schmorl's nodes (indicate disc herniation)* - **Schmorl's nodes** are vertebral endplate indentations where the nucleus pulposus herniates into the vertebral body. - While sometimes associated with back pain, they are indicative of **disc degeneration** or trauma, not the inflammatory process of ankylosing spondylitis. *Bamboo spine* - **Bamboo spine** is a descriptive term for the advanced stage of ankylosing spondylitis, resulting from widespread **syndesmophyte formation** and fusion of the vertebrae [1]. - While ultimately a feature of ankylosing spondylitis, it describes the overall appearance due to multiple **syndesmophytes**, rather than being a specific individual finding itself [1].

Q: A 55-year-old woman presents with firm, indurated plaques on her face and hands, and she also has Raynaud's phenomenon. What is the most likely diagnosis?

Scleroderma. ***Scleroderma*** - **Firm, indurated plaques** on the face and hands are characteristic of **skin thickening** seen in systemic sclerosis [1]. - **Raynaud's phenomenon** is a very common initial symptom in scleroderma, often preceding other manifestations. *Systemic lupus erythematosus* - While it can cause skin lesions, they typically manifest as a **malar rash** or discoid lesions, not firm, indurated plaques [3]. - Raynaud's can occur, but the combination of specific skin findings points away from SLE as the most likely diagnosis. *Dermatomyositis* - Characterized by **proximal muscle weakness** and specific skin findings like **Gottron's papules** and the **heliotrope rash** [2]. - The described **firm, indurated plaques** are not typical of dermatomyositis. *Sarcoidosis* - May present with various skin lesions, including plaques, but these are usually **erythematous** or violaceous and histologically show **non-caseating granulomas**. - **Raynaud's phenomenon** is not a primary or common feature of sarcoidosis.

Question 1

A 30-year-old man presents with a history of migratory arthritis, carditis, and erythema marginatum. What is the most likely diagnosis?

Accepted Answer

Rheumatic fever

Answer

Rheumatoid arthritis

Answer

Systemic lupus erythematosus

Answer

Psoriatic arthritis

Question 2

A 29-year-old man presents with recurrent oral ulcers, uveitis, and arthritis. Which HLA subtype is most commonly associated with his condition?

Accepted Answer

HLA-B51

Answer

HLA-B27

Answer

HLA-DR4

Answer

HLA-DR3

Question 3

Which of the following is the most appropriate initial treatment for a patient with newly diagnosed rheumatoid arthritis (RA)?

Accepted Answer

Methotrexate

Answer

Infliximab

Answer

Hydroxychloroquine

Answer

Prednisone

Question 4

A 55-year-old man develops severe pain and swelling in his knee over the past 24 hours. His knee is erythematous and warm. Arthrocentesis reveals negatively birefringent needle-shaped crystals. What is the most likely diagnosis?

Accepted Answer

Gout

Answer

Pseudogout

Answer

Rheumatoid arthritis

Answer

Septic arthritis

Question 5

A 40-year-old man presents with a history of hypertension and episodes of abdominal pain. Angiography reveals multiple aneurysms in the renal arteries. What is the most likely diagnosis?

Accepted Answer

Polyarteritis nodosa

Answer

Kawasaki disease

Answer

Takayasu arteritis

Answer

Granulomatosis with polyangiitis

Question 6

A 40-year-old female presents with progressive difficulty in combing her hair and climbing stairs. Physical examination reveals proximal muscle weakness. What is the most likely diagnosis?

Accepted Answer

Dermatomyositis

Answer

Myasthenia gravis

Answer

Guillain-Barre syndrome

Answer

Multiple sclerosis

Question 7

A 55-year-old man with a history of gout presents with a sudden onset of severe pain in the big toe. What is the best initial treatment?

Accepted Answer

Colchicine

Answer

Allopurinol

Answer

Probenecid

Answer

Indomethacin

Question 8

A 30-year-old male presents with digital infarcts involving the 2nd and 3rd fingers on the right side and the 5th finger on the left side. His blood pressure is 160/140 mm Hg. What is the likely diagnosis?

Accepted Answer

Systemic sclerosis

Answer

Takayasu arteritis

Answer

Buerger's disease

Answer

Polyarteritis nodosa

Question 9

In a patient with a history of chronic back pain and morning stiffness that improves with exercise, which radiographic finding is characteristic of ankylosing spondylitis?

Accepted Answer

Syndesmophytes

Answer

Bamboo spine

Answer

Osteophytes (associated with osteoarthritis)

Answer

Schmorl's nodes (indicate disc herniation)

Question 10

A 55-year-old woman presents with firm, indurated plaques on her face and hands, and she also has Raynaud's phenomenon. What is the most likely diagnosis?

Accepted Answer

Scleroderma

Answer

Systemic lupus erythematosus

Answer

Dermatomyositis

Answer

Sarcoidosis

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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