Rheumatology & Haematology — MCQs

Rheumatology & Haematology UK Medical PG Practice Questions and MCQs

Question 21: A 25-year-old man presents with recurrent mouth ulcers, genital ulcers, and erythema nodosum on his shins. He also complains of joint pain and eye irritation. What is the most likely diagnosis?

A. Herpes simplex infection
B. Behçet's disease (Correct Answer)
C. Crohn's disease
D. Aphthous stomatitis
E. Systemic lupus erythematosus

Explanation: ***Behçet's disease*** - The constellation of recurrent **oral ulcers**, **genital ulcers**, and **ocular lesions** (eye irritation) along with **erythema nodosum** and **joint pain** is highly characteristic of Behçet's disease, a systemic vasculitis. - This multisystem inflammatory condition primarily affects small and large vessels and often presents with these mucocutaneous, ocular, and musculoskeletal symptoms. *Herpes simplex infection* - While **herpes simplex** causes recurrent oral and genital ulcers, these are typically **vesicular** before ulceration and are not typically associated with systemic manifestations like **erythema nodosum**, widespread **arthralgia**, or the severe **ocular inflammation** seen in Behçet's. - It is a localized viral infection and does not explain the broad systemic inflammatory presentation described. *Crohn's disease* - **Crohn's disease**, an inflammatory bowel disease, can cause oral aphthous ulcers and perianal lesions, but **genital ulcers** as described here (distinct from perianal) and **erythema nodosum** are not core diagnostic features. - The primary symptoms of Crohn's involve chronic **gastrointestinal inflammation**, which is not the predominant clinical picture in this patient. *Aphthous stomatitis* - **Aphthous stomatitis** explains only the **recurrent mouth ulcers**. - It does not account for the other significant symptoms, including **genital ulcers**, **erythema nodosum**, **joint pain**, and **eye irritation**, which indicate a systemic disorder. *Systemic lupus erythematosus* - **Systemic lupus erythematosus (SLE)** can cause oral ulcers and joint pain (**arthralgia/arthritis**), but **genital ulcers** and **erythema nodosum** are not typical primary diagnostic criteria or common presentations of SLE. - While SLE is a systemic autoimmune disease, the specific combination of symptoms points more strongly towards Behçet's disease.

Question 22: A 40-year-old woman presents with fatigue, muscle aches, and morning stiffness lasting over 1 hour. She has tender points at multiple sites including neck, shoulders, and hips. Blood tests including ESR and CRP are normal. What is the most likely diagnosis?

A. Rheumatoid arthritis
B. Systemic lupus erythematosus
C. Fibromyalgia (Correct Answer)
D. Polymyalgia rheumatica
E. Hypothyroidism

Explanation: ***Fibromyalgia***- This diagnosis is strongly suggested by the combination of chronic, widespread pain, fatigue, prolonged **morning stiffness** (>1 hour), and the presence of multiple definitive **tender points**.- Crucially, fibromyalgia is a non-inflammatory centralized pain disorder, evidenced by the **normal ESR and CRP** results, ruling out most inflammatory arthropathies.*Rheumatoid arthritis*- RA typically presents with objective **synovitis** (joint swelling) and limited use of specific joints, particularly small joints of the hands and feet, which is not described here.- Active RA is an inflammatory disease and would typically show **elevated ESR and CRP**, making it an unlikely diagnosis with normal laboratory findings.*Systemic lupus erythematosus*- SLE is a multi-system autoimmune disorder that often involves specific organ manifestations (e.g., rash, hematologic issues, nephritis) and would usually present with abnormal immunologic markers (e.g., positive **ANA** or anti-dsDNA).- Like RA, active SLE often causes **elevated inflammatory markers (ESR and CRP)**, conflicting with the patient's normal blood test results.*Polymyalgia rheumatica*- PMR causes severe aching and stiffness primarily restricted to the **shoulder and hip girdles** (proximal symptoms), not widespread body tenderness.- A hallmark feature of PMR is a **dramatically elevated ESR and CRP**, which is absent in this case.*Hypothyroidism*- While hypothyroidism can cause fatigue and **myalgia**, it would not typically cause the specific pattern of widespread **tender points** required for a fibromyalgia diagnosis.- Diagnosis relies on abnormal **TSH and free T4** levels; pain and stiffness are less prominent features than in inflammatory or primary pain disorders like fibromyalgia.

Question 23: A 50-year-old woman presents with progressive muscle weakness, particularly affecting her shoulders and hips. She has difficulty rising from chairs and climbing stairs. Her CK is elevated at 2000 U/L. EMG shows myopathic changes. What is the most likely diagnosis?

A. Polymyalgia rheumatica
B. Polymyositis (Correct Answer)
C. Myasthenia gravis
D. Motor neuron disease
E. Hypothyroidism

Explanation: ***Polymyositis***- The patient's presentation with progressive, symmetric **proximal muscle weakness** affecting shoulders and hips, leading to difficulty rising from chairs and climbing stairs, is a classic feature of polymyositis.- A significantly elevated **CK (2000 U/L)** indicates substantial muscle damage, and **myopathic changes** on EMG confirm a primary muscle disorder, all consistent with polymyositis.*Polymyalgia rheumatica*- Polymyalgia rheumatica (PMR) primarily presents with severe muscle **pain and stiffness**, especially in the shoulders and hips, but not objective **muscle weakness**.- In PMR, **CK levels are typically normal**, which contrasts with the markedly elevated CK found in this patient.*Myasthenia gravis*- Myasthenia gravis (MG) causes **fluctuating muscle weakness** and **fatigability** that worsens with activity and improves with rest, often starting with ocular or bulbar symptoms.- **CK levels are normal** in MG, and EMG demonstrates a **decremental response** to repetitive nerve stimulation, indicating a defect at the neuromuscular junction, not muscle inflammation.*Motor neuron disease*- Motor neuron disease (MND) involves signs of both upper and/or lower **motor neuron damage**, such as spasticity, fasciculations, and muscle atrophy, but no sensory deficits.- EMG in MND shows **neurogenic changes** (denervation and reinnervation), and **CK levels are usually normal** or only mildly elevated, not significantly high.*Hypothyroidism*- Hypothyroid myopathy can cause muscle stiffness, cramps, and sometimes **mild-to-moderate proximal weakness**, with **CK levels usually mildly to moderately elevated**.- A CK of 2000 U/L is very high for uncomplicated hypothyroid myopathy, and the primary diagnosis would require abnormal **thyroid function tests**, which are not mentioned.

Question 24: A 35-year-old man presents with acute onset severe pain and swelling in his right great toe. The joint is red, hot, and extremely tender. His serum uric acid is 450 μmol/L (normal 200-430). What is the most appropriate acute treatment?

A. Allopurinol
B. Colchicine
C. Ibuprofen (Correct Answer)
D. Prednisolone
E. Paracetamol

Explanation: ***Ibuprofen*** - **Non-steroidal anti-inflammatory drugs (NSAIDs)** like ibuprofen are the **first-line treatment** for acute gout flares, rapidly reducing severe pain and inflammation due to **uric acid crystal deposition**. - They act by inhibiting **cyclooxygenase (COX) enzymes**, thereby blocking prostaglandin synthesis, which is crucial for managing the intense inflammatory response characteristic of **podagra**. *Allopurinol* - **Allopurinol** is a **xanthine oxidase inhibitor** primarily used for **long-term prophylaxis** to lower serum uric acid levels, not for acute management of a flare. - Initiating allopurinol during an acute attack is generally **contraindicated** as it can mobilize uric acid stores, potentially prolonging or worsening the attack. *Colchicine* - **Colchicine** is an effective anti-inflammatory agent for acute gout, but it's typically a **second-line** option or preferred if started very early (ideally within 12-24 hours of onset). - Its use is often limited by a narrow therapeutic window and dose-dependent **gastrointestinal side effects** such as diarrhea and nausea. *Prednisolone* - **Prednisolone** (corticosteroids) is highly effective for acute gout but is generally reserved for patients who cannot tolerate NSAIDs or colchicine, or those with severe, polyarticular attacks. - Systemic steroids are considered **second- or third-line options**, particularly when NSAIDs are contraindicated (e.g., severe renal failure, heart failure, active peptic ulcer disease). *Paracetamol* - **Paracetamol (Acetaminophen)** is a simple analgesic and antipyretic that **lacks significant anti-inflammatory properties**. - It is insufficient for controlling the intense **chemical inflammation** and severe pain characteristic of an acute gout flare, making it an inappropriate primary treatment.

Question 25: A 35-year-old woman presents with recurrent miscarriages (3 in the past 2 years) and a history of deep vein thrombosis. Blood tests show prolonged APTT that doesn't correct with mixing studies. What is the most likely diagnosis?

A. Factor V Leiden mutation
B. Protein C deficiency
C. Antiphospholipid syndrome (Correct Answer)
D. Prothrombin gene mutation
E. Antithrombin deficiency

Explanation: ***Antiphospholipid syndrome***- The combination of **recurrent miscarriages** and a history of **deep vein thrombosis (DVT)** is a hallmark clinical presentation of Antiphospholipid Syndrome (APS).- The finding of a **prolonged APTT** that fails to correct with a normal plasma mixing study is highly suggestive of **lupus anticoagulant (LA)**, a key diagnostic criterion for APS.*Factor V Leiden mutation*- This condition causes **resistance to activated protein C**, primarily increasing the risk of **venous thrombosis**.- Routine coagulation tests like **aPTT** are typically **normal** in individuals with this mutation.*Protein C deficiency*- This disorder primarily increases the risk of **venous thrombosis** but is less frequently associated with recurrent fetal loss compared to APS.- Coagulation screening tests (**PT** and **aPTT**) are generally **normal** in individuals with this deficiency.*Prothrombin gene mutation*- This mutation (G20210A) results in increased levels of **prothrombin (Factor II)** and primarily causes an increased risk of **venous thrombosis**.- Standard coagulation assays (**PT** and **aPTT**) typically remain **normal** in affected individuals.*Antithrombin deficiency*- This deficiency causes a severe, high-risk state for **venous thrombosis** (DVT/PE).- Although it causes hypercoagulability, it is not strongly associated with the specific combination of thrombosis and **recurrent miscarriages** defining APS, and baseline aPTT is usually normal.

Question 26: A 50-year-old woman presents with a 6-month history of dry eyes and dry mouth. She also complains of joint pain in her hands and fatigue. Blood tests show positive anti-Ro and anti-La antibodies. What is the most likely diagnosis?

A. Systemic lupus erythematosus
B. Sjögren's syndrome (Correct Answer)
C. Rheumatoid arthritis
D. Systemic sclerosis
E. Polymyalgia rheumatica

Explanation: ***Sjögren's syndrome*** - The classic triad of **dry eyes (xerophthalmia)**, **dry mouth (xerostomia)**, and **arthralgia** is highly characteristic of Sjögren's syndrome. - The presence of **positive anti-Ro (SSA)** and **anti-La (SSB) antibodies** further confirms the diagnosis, as these are specific markers for Sjögren's. *Systemic lupus erythematosus* - While anti-Ro/La antibodies can be positive in a subset of SLE patients, the primary presentation in SLE typically includes **malar rash**, **photosensitivity**, **serositis**, or **renal involvement**, which are not the dominant features here. - SLE is a multisystem autoimmune disease with a broader spectrum of manifestations beyond isolated sicca symptoms and joint pain. *Rheumatoid arthritis* - Rheumatoid arthritis primarily presents with **inflammatory synovitis** affecting small joints, characterized by morning stiffness and swelling, often symmetric. - While secondary Sjögren's can occur in RA, the primary complaint of prominent dry eyes and dry mouth with positive anti-Ro/La antibodies makes Sjögren's the more direct diagnosis. *Systemic sclerosis* - Systemic sclerosis is characterized by **skin thickening (scleroderma)**, **Raynaud's phenomenon**, and potential **internal organ fibrosis** (e.g., lungs, GI tract). - Although some patients may experience sicca symptoms, the hallmark skin changes and specific autoantibodies (anti-Scl-70, anti-centromere) are typically present, which are not described. *Polymyalgia rheumatica* - Polymyalgia rheumatica is characterized by **bilateral pain and stiffness** in the **shoulders and hip girdle**, often worse in the morning, typically in older adults. - It does not involve prominent sicca symptoms or specific hand joint pain, and anti-Ro/La antibodies are not associated with this condition.

Question 27: A 45-year-old man presents with a 2-month history of weight loss, night sweats, and painless lymph node enlargement in his neck. Lymph node biopsy shows Reed-Sternberg cells. What is the most likely diagnosis?

A. Non-Hodgkin's lymphoma
B. Hodgkin's lymphoma (Correct Answer)
C. Chronic lymphocytic leukemia
D. Infectious mononucleosis
E. Metastatic carcinoma

Explanation: ***Hodgkin's lymphoma*** - The presence of **Reed-Sternberg cells** (large, often binucleated cells with prominent nucleoli) in the lymph node biopsy is pathognomonic for Hodgkin's lymphoma (HL). - The constitutional symptoms of **weight loss** and **night sweats**, known as **B symptoms**, are classic presenting features highly suggestive of HL in a patient with painless lymphadenopathy. *Non-Hodgkin's lymphoma* - This group of malignancies is very heterogeneous but is *not* defined by the presence of **Reed-Sternberg cells**, which are unique to HL. - NHL typically arises from B or T lymphocytes, often presents later in life, and frequently involves extranodal sites without this specific cellular hallmark. *Chronic lymphocytic leukemia* - CLL is characterized by the proliferation of small, mature, **CD5+/CD23+ B-cells** and typically involves striking peripheral blood lymphocytosis. - The lymph node architecture in CLL would be effaced by these small lymphocytes, not by large, atypical cells like **Reed-Sternberg cells**. *Infectious mononucleosis* - This is an acute, self-limiting infection, usually caused by **Epstein-Barr virus (EBV)**, and would typically not cause chronic **B symptoms** lasting 2 months. - While *Reed-Sternberg-like cells* can sometimes be observed in reactive conditions, true **Reed-Sternberg cells** along with B symptoms point definitively to malignancy. *Metastatic carcinoma* - The biopsy showing **Reed-Sternberg cells**, which are lymphoid in origin, rules out metastatic carcinoma. - Metastatic carcinoma would show nests of **epithelial cells** (usually positive for **cytokeratin**) without features of a primary hematolymphoid malignancy.

Question 28: A 44-year-old woman presents with fatigue, joint pain, and a malar rash. Blood tests show ANA 1:640 (homogeneous pattern), anti-dsDNA positive, low C3 and C4. Urinalysis shows proteinuria and hematuria. What is the most likely diagnosis?

A. Drug-induced lupus
B. Systemic lupus erythematosus (Correct Answer)
C. Mixed connective tissue disease
D. Sjögren's syndrome
E. Dermatomyositis

Explanation: ***Systemic lupus erythematosus***- The combination of **malar rash**, fatigue, joint pain, high titer **ANA** (homogeneous pattern), and the presence of **anti-dsDNA antibodies** is highly specific and diagnostic for **Systemic Lupus Erythematosus (SLE)**.- The findings of **low C3 and C4** indicate active disease with **complement consumption**, which, along with **proteinuria and hematuria**, strongly suggests the presence of active **lupus nephritis**.*Drug-induced lupus*- This condition is typically characterized by the presence of **anti-histone antibodies**, rather than high titers of anti-dsDNA antibodies.- Drug-induced lupus is usually milder and rarely involves key major organs like the kidneys, making severe **nephritis** with proteinuria and hematuria unlikely.*Mixed connective tissue disease*- MCTD is defined by very high titers of **anti-U1-RNP antibodies** and an overlap of features, but high **anti-dsDNA** and severe nephritis are less characteristic.- While overlap can occur, the prominent **anti-dsDNA positivity** and severe **lupus nephritis** of this magnitude are far more indicative of pure SLE than MCTD.*Sjögren's syndrome*- The primary presentation of Sjögren's involves **sicca symptoms** (dry eyes and mouth) and is associated with antinuclear antibodies like **anti-Ro/SSA** and **anti-La/SSB**.- While patients can have arthralgias, the presence of **malar rash**, high **anti-dsDNA**, and severe **nephritis** makes Sjögren's syndrome a less likely primary diagnosis.*Dermatomyositis*- The central features of dermatomyositis are **proximal muscle weakness**, elevated muscle enzymes, and diagnostic skin signs such as the **Heliotrope rash** and **Gottron's papules**.- Severe renal involvement (glomerulonephritis) and high titers of **anti-dsDNA** are not typical findings associated with this primary myopathy, and a malar rash is distinct from typical dermatomyositis rashes.

Question 29: A 29-year-old woman presents with fatigue, pallor, and spoon-shaped nails (koilonychia). Blood tests show Hb 7.5 g/dL. MCV 65 fL, ferritin 8 µg/L. What is the most likely cause?

A. Vitamin B12 deficiency
B. Iron deficiency anemia (Correct Answer)
C. Thalassemia
D. Chronic disease
E. Folate deficiency

Explanation: ***Iron deficiency anemia*** - The triad of **microcytic anemia** (MCV 65 fL), extremely low **ferritin** (8 µg/L, indicating absolute iron deficiency), and clinical findings like **fatigue** and **pallor** is pathognomonic for absolute iron deficiency. - **Koilonychia** (spoon-shaped nails) is a classic, though uncommon, physical sign highly specific to severe or chronic iron deficiency anemia. *Vitamin B12 deficiency* - Vitamin B12 deficiency causes **macrocytic anemia** (high MCV), not the microcytic anemia (MCV 65 fL) observed in this patient. - This deficiency is often associated with **neurological symptoms** (e.g., paresthesias) and typically results in normal or elevated ferritin levels. *Thalassemia* - Thalassemia causes **microcytic anemia** but is characterized by a normal or high **ferritin** level (as iron stores are adequate but utilization is impaired). - Diagnosis relies on the demonstration of abnormal hemoglobin chains via **hemoglobin electrophoresis**, not depleted iron stores. *Chronic disease* - Anemia of chronic disease (ACD) typically presents as **normocytic** or mildly microcytic anemia, but the hallmark is **elevated ferritin** (reflecting sequestered iron) and low transferrin saturation. - The severely low **ferritin** (8 µg/L) strongly contradicts the pathophysiology of ACD, where iron stores are adequate but inaccessible. *Folate deficiency* - Similar to B12 deficiency, folate deficiency causes **macrocytic anemia** (high MCV), which does not match the patient's presentation of MCV 65 fL. - This condition is often associated with poor diet or malabsorption and is primarily distinguished by significantly reduced serum folate levels.

Question 30: A 65-year-old woman presents with severe bone pain, particularly in her back and ribs. X-rays show multiple lytic lesions throughout the skeleton. Blood tests show elevated calcium and raised ESR. What investigation would be most helpful?

A. Bone marrow biopsy
B. Serum protein electrophoresis (Correct Answer)
C. Bone scan
D. Parathyroid hormone
E. Vitamin D levels

Explanation: ***Serum protein electrophoresis***- This test is crucial for detecting and quantifying the **monoclonal protein (M-spike)**, which is the defining laboratory feature of **Multiple Myeloma**.- The clinical presentation—severe bone pain, **multiple lytic lesions**, hypercalcemia, and high ESR—is highly suggestive of a plasma cell malignancy, making SPEP the most helpful initial diagnostic investigation.*Bone marrow biopsy*- While essential for confirming the diagnosis by quantifying **clonal plasma cells**, it is typically performed after the presence of a **monoclonal gammopathy** is established via SPEP/UPEP.- This is an **invasive procedure** and is confirmatory, whereas SPEP is the initial test to identify the hallmark biochemical abnormality.*Bone scan*- Standard **technetium bone scans** are often **negative or misleading** in **Multiple Myeloma** because the lytic lesions lack the osteoblastic phase (new bone formation) needed for tracer uptake.- Plain X-rays, whole-body low-dose CT, or PET scans are superior imaging modalities for assessing the bone destruction (**lytic lesions**) associated with MM.*Parathyroid hormone*- Measuring **PTH** is the standard test to evaluate primary hyperparathyroidism, which is a key differential cause of hypercalcemia.- However, PTH would typically be suppressed in malignancy-associated hypercalcemia, and this test does not explain the concurrent findings of widespread **lytic lesions** and a **raised ESR**.*Vitamin D levels*- While important for general bone health, **Vitamin D levels** are not the primary investigative tool for aggressively destructive bone disease coupled with systemic symptoms like high ESR.- Assessing Vitamin D is more relevant for conditions like osteomalacia or nutritional deficiencies, not a suspected systemic bone malignancy like MM.

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