Rheumatology & Haematology — MCQs

Rheumatology & Haematology UK Medical PG Practice Questions and MCQs

Question 31: A 51-year-old man presents with progressive muscle weakness affecting his shoulders and hips. He has difficulty rising from chairs and climbing stairs. CK is 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 presentation of **progressive, symmetrical proximal muscle weakness** (shoulders and hips, difficulty rising/climbing stairs) is highly typical for inflammatory myopathies like polymyositis. - The markedly elevated **Creatine Kinase (CK) of 2000 U/L** and confirmation of **myopathic changes** on EMG strongly confirm primary muscle tissue damage, characteristic of polymyositis.*Polymyalgia rheumatica*- This condition primarily causes **morning stiffness** and **pain** in the proximal muscles (shoulders and hips), but patients typically exhibit *minimal* or *no* true muscle weakness.- **CK levels** are usually normal in polymyalgia rheumatica, unlike the massive elevation seen here.*Myasthenia gravis*- Characterized by **fluctuating, fatigable weakness** that is often worse at the end of the day or after exercise, commonly affecting **ocular** and **bulbar muscles**.- Muscle enzyme levels such as **CK** are typically **normal**, distinguishing it from an inflammatory myositis.*Motor neuron disease*- This disorder causes progressive weakness due to **upper and lower motor neuron degeneration**, often leading to **fasciculations** and atrophy.- Although weakness occurs, the CK elevation is usually mild or normal, and EMG characteristically shows **neurogenic** (not myopathic) changes.*Hypothyroidism*- Hypothyroidism can cause a mild form of chronic myopathy with proximal weakness, pain, and stiffness, often associated with generalized symptoms.- The associated CK elevation is typically **mild to moderate** (usually well below 2000 U/L), making the extreme elevation seen here less likely due to isolated hypothyroidism.

Question 32: A 36-year-old woman presents with fatigue, joint pain, and photosensitive rash. Blood tests show pancytopenia, positive ANA, and low complement levels. Urinalysis shows proteinuria and RBC casts. What is the most appropriate initial treatment?

A. NSAIDs
B. Hydroxychloroquine
C. Prednisolone (Correct Answer)
D. Methotrexate
E. Rituximab

Explanation: ***Prednisolone*** - The patient presents with features suggestive of **severe Systemic Lupus Erythematosus (SLE)**, including **lupus nephritis** (proteinuria, RBC casts) and **pancytopenia**, which constitute organ-threatening manifestations.- **High-dose systemic corticosteroids** like prednisolone are the initial treatment of choice for acute flares of severe SLE to rapidly suppress inflammation and prevent further organ damage.*NSAIDs* - **NSAIDs** are typically used for mild musculoskeletal symptoms in SLE, such as arthralgias, but are insufficient for systemic, organ-threatening disease like **lupus nephritis** or **pancytopenia**.- They carry risks, especially in patients with renal involvement, and would not address the severe inflammatory process requiring rapid immunosuppression.*Hydroxychloroquine* - **Hydroxychloroquine** is a cornerstone of SLE treatment for mild-to-moderate disease and for long-term maintenance, helping to reduce flares and improve survival.- However, it has a **slow onset of action** and is **insufficient** as monotherapy for acute, severe organ-threatening manifestations like active lupus nephritis or severe cytopenias.*Methotrexate* - **Methotrexate** is an immunosuppressant used in SLE, primarily for arthritis and skin manifestations, often as a **steroid-sparing agent**.- It is **not indicated** as an initial monotherapy for acute, severe, life-threatening SLE flares, especially those involving the kidneys and bone marrow, where rapid immunosuppression is critical.*Rituximab* - **Rituximab** is a B-cell depleting agent used in refractory or severe SLE, particularly for certain hematologic manifestations or lupus nephritis that is **unresponsive to conventional therapy**.- It is generally considered a **second-line or salvage therapy**, not the initial treatment for acute, severe presentations, unless specific contraindications to corticosteroids exist.

Question 33: A 49-year-old woman presents with fatigue, muscle weakness, and purple discoloration around her eyes (heliotrope rash). She has difficulty swallowing and a rash over her knuckles. CK is 3500 U/L. What is the most likely diagnosis?

A. Polymyositis
B. Dermatomyositis (Correct Answer)
C. Inclusion body myositis
D. Polymyalgia rheumatica
E. Hypothyroidism

Explanation: ***Dermatomyositis***- The combination of severe proximal **muscle weakness**, markedly elevated **CK** (3500 U/L), and characteristic skin findings such as **heliotrope rash** and **Gottron papules** is highly indicative of dermatomyositis.- **Dysphagia** is also a common feature in dermatomyositis due to the involvement of striated muscles in the pharynx and upper esophagus.*Polymyositis*- While polymyositis also presents with **proximal muscle weakness** and elevated **CK**, it is characterized by the **absence of the distinctive skin rashes** seen in this patient.- The presence of **heliotrope rash** and **Gottron papules** effectively rules out polymyositis, which is a muscle-centric inflammatory disorder.*Inclusion body myositis*- IBM typically presents with a more insidious onset and often affects **distal muscles** and **quadriceps** preferentially, leading to different patterns of weakness.- **CK elevation** in IBM is usually mild, rarely reaching the severe levels (3500 U/L) observed in acute inflammatory myopathies like dermatomyositis.*Polymyalgia rheumatica*- PMR is characterized by **pain and stiffness** in the shoulder and hip girdles, especially prominent in the morning, rather than objective **muscle weakness**.- Crucially, **CK levels are almost always normal** in polymyalgia rheumatica, making the elevated CK (3500 U/L) incompatible with this diagnosis.*Hypothyroidism*- Hypothyroid myopathy can cause **fatigue** and **muscle weakness**, but it lacks the specific **inflammatory skin manifestations** such as the heliotrope rash and Gottron papules.- While CK can be elevated in hypothyroidism, it usually does not reach the **extreme levels** of 3500 U/L seen in severe inflammatory myositis.

Question 34: A 29-year-old man presents with acute severe abdominal pain and vomiting. He has a strong family history of similar episodes. Serum amylase is normal. Urinary porphobilinogen is elevated. What is the most likely diagnosis?

A. Acute pancreatitis
B. Acute intermittent porphyria (Correct Answer)
C. Familial Mediterranean fever
D. Hereditary angioedema
E. Inflammatory bowel disease

Explanation: ***Acute intermittent porphyria***- Acute intermittent porphyria (**AIP**) presents with acute, severe, often colicky abdominal pain and vomiting, frequently mistaken for an acute abdomen presentation, consistent with the patient's symptoms and strong family history.- The definitive diagnostic marker for an acute porphyria attack is the significant elevation of **urinary porphobilinogen (PBG)** and delta-aminolevulinic acid (ALA), confirming the diagnosis over other causes of acute abdominal pain.*Acute pancreatitis*- Although acute pancreatitis causes severe abdominal pain and vomiting, the diagnosis requires significantly elevated **serum amylase** and/or lipase (usually threefold the upper limit of normal).- The patient's **normal serum amylase** level makes uncomplicated acute pancreatitis highly unlikely as the underlying cause, especially alongside the specific finding of elevated PBG.*Familial Mediterranean fever*- FMF causes severe, self-limiting episodes of serositis (peritonitis), causing fever and abdominal pain, but it is typically diagnosed by clinical criteria and genetic testing for the **MEFV mutation**.- Unlike AIP, FMF does not involve defects in the heme synthesis pathway and thus does not cause elevation of **urinary porphobilinogen**.*Hereditary angioedema*- HAE can cause severe colicky abdominal pain due to **visceral angioedema** (swelling of the bowel wall), which may mimic an acute abdomen.- This disorder is linked to a deficiency or dysfunction of **C1-inhibitor** and is not associated with elevated urinary porphobilinogen.*Inflammatory bowel disease*- IBD, such as Crohn's disease, causes chronic or relapsing abdominal pain, often accompanied by diarrhea, weight loss, and hematochezia, and usually does not present with sudden, profound acute attacks mimicking this porphyric crisis.- IBD diagnosis relies on endoscopy and biopsy, and it does not result in a characteristic elevation of **urinary porphobilinogen**.

Question 35: A 45-year-old woman presents with progressive dysphagia and Raynaud's phenomenon. She has tight, thickened skin on her hands and face. ANA shows nucleolar pattern. What is the most likely diagnosis?

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

Explanation: ***Systemic sclerosis*** - The combination of **progressive dysphagia**, **Raynaud's phenomenon**, and **tight, thickened skin** on hands and face are classic manifestations. - A **nucleolar ANA pattern** is highly characteristic, often associated with specific autoantibodies like **anti-topoisomerase I (Scl-70)** or **anti-RNA polymerase III** in systemic sclerosis. *Systemic lupus erythematosus* - Typically presents with diverse symptoms including **arthritis**, rash (e.g., malar), photosensitivity, and renal involvement, which are not highlighted here. - ANA in SLE commonly shows a **homogeneous** or **speckled pattern**, with specific antibodies like **anti-dsDNA** or **anti-Sm**, rather than a nucleolar pattern. *Sjögren's syndrome* - Primarily characterized by **sicca symptoms** like dry eyes and dry mouth due to exocrine gland dysfunction. - While Raynaud's can occur, significant widespread skin thickening and dysphagia from esophageal dysmotility are not its primary features. *Dermatomyositis* - Features include **proximal muscle weakness** and distinctive skin findings like **heliotrope rash** and **Gottron's papules**, which are absent in this presentation. - Skin thickening as described is not typical; dysphagia, if present, is usually due to pharyngeal muscle weakness, not esophageal dysmotility. *Mixed connective tissue disease* - Defined by overlapping features of SLE, systemic sclerosis, and polymyositis, but the predominant features here align with systemic sclerosis. - The serological hallmark is a high titer of **anti-U1-RNP antibodies**, which doesn't specifically correlate with a nucleolar ANA pattern.

Question 36: A 32-year-old woman presents with recurrent miscarriages and arterial thrombosis. Blood tests show positive lupus anticoagulant and anticardiolipin antibodies. What is the most appropriate long-term treatment?

A. Aspirin alone
B. Warfarin (Correct Answer)
C. Clopidogrel
D. LMWH
E. No treatment

Explanation: ***Warfarin***- Warfarin is the definitive long-term therapy for **secondary prevention** of thrombosis in non-pregnant patients with Antiphospholipid Syndrome (APS) following an arterial or venous thrombotic event.- The target intensity is typically an **International Normalized Ratio (INR) of 2.0 to 3.0**, which is necessary to prevent severe recurrent events, particularly **arterial thrombosis**.*Aspirin alone*- Aspirin is primarily used for **primary prophylaxis** in high-risk, asymptomatic APS carriers or often adjunctively, but it is insufficient as monotherapy following a documented **arterial thrombosis**.- The risk profile is too high for antiplatelet therapy alone; the patient requires full anticoagulation to mitigate the risk of severe **recurrent clotting**.*Clopidogrel*- Clopidogrel is an **antiplatelet agent** that targets platelet aggregation, similar to aspirin, and is not the preferred primary long-term treatment modality for systemic hypercoagulability syndromes like APS.- **Anticoagulation** (Warfarin) is superior to antiplatelet therapy for preventing the broad spectrum of **venous and arterial thromboembolism** seen in APS.*LMWH*- Low Molecular Weight Heparin (LMWH) is the treatment of choice for acute thrombosis and is specifically used during **pregnancy** (often combined with low-dose aspirin) to prevent obstetric complications.- It is administered via injection and is generally not preferred for convenient **long-term, non-pregnancy management** due to the burden of daily injections.*No treatment*- Failure to treat the patient with established APS and previous thrombosis puts her at an exceedingly high risk of severe and potentially fatal **recurrent thrombotic events** (e.g., recurrent stroke, catastrophic APS).- APS is a serious chronic condition requiring lifelong medical intervention, often **anticoagulation**, once a significant thrombosis has occurred.

Question 37: A 48-year-old woman presents with fatigue, muscle weakness, and purple discoloration around her eyes. She has difficulty swallowing and a rash over her knuckles. CK is 4000 U/L. What is the most important additional investigation?

A. EMG
B. Muscle biopsy
C. CT chest/abdomen/pelvis (Correct Answer)
D. ANA and myositis antibodies
E. Thyroid function tests

Explanation: ***CT chest/abdomen/pelvis***- The clinical presentation (fatigue, proximal muscle weakness, **heliotrope rash**, **Gottron's papules**, dysphagia, and markedly elevated CK) is highly characteristic of **Dermatomyositis**.- Patients with Dermatomyositis have a significantly increased risk of **occult malignancy**, necessitating thorough screening, typically with a **CT scan of the chest, abdomen, and pelvis** to identify potential underlying cancers (e.g., ovarian, lung, gastric, pancreatic).*EMG*- While an **EMG** would show characteristic myopathic changes (e.g., fibrillations, positive sharp waves, low-amplitude motor unit potentials), the clinical picture and elevated CK already strongly suggest inflammatory myopathy.- Given the high association of Dermatomyositis with malignancy, identifying potential cancer takes precedence over further electrodiagnostic confirmation of the myopathy itself as the *most important additional investigation*.*Muscle biopsy*- A **muscle biopsy** is considered the **gold standard** for confirming Dermatomyositis, revealing perifascicular atrophy and perivascular inflammation.- However, in a patient with a clear clinical diagnosis of Dermatomyositis, the immediate priority is to screen for associated malignancy, which can be life-threatening, before proceeding with invasive diagnostic procedures for the myopathy itself.*ANA and myositis antibodies*- **ANA and myositis-specific autoantibodies** (e.g., anti-Mi-2, anti-TIF1-gamma, anti-NXP2) are important for classifying the subtype of inflammatory myopathy, predicting disease course, and guiding treatment.- While crucial for a complete workup, the *most important additional investigation* in this specific context (newly diagnosed Dermatomyositis with malignancy risk) is to rule out associated cancer.*Thyroid function tests*- **Hypothyroidism** can cause myopathy with features like fatigue, weakness, and elevated CK (myxedema myopathy), making **thyroid function tests** a reasonable general screening tool for myopathy.- However, the classic cutaneous findings of **heliotrope rash** and **Gottron's papules** are highly specific for Dermatomyositis, distinguishing it from thyroid-related myopathy and making malignancy screening the priority.

Question 38: A 34-year-old woman presents with severe fatigue, muscle pain, and morning stiffness lasting over 2 hours. She has multiple tender points but normal inflammatory markers. What is the most appropriate initial treatment?

A. NSAIDs
B. Corticosteroids
C. Pregabalin (Correct Answer)
D. Methotrexate
E. Physiotherapy

Explanation: ***Pregabalin***- The patient's symptoms of severe fatigue, widespread muscle pain, morning stiffness lasting over 2 hours, and multiple tender points, coupled with normal inflammatory markers, are classic for **fibromyalgia**.- Pregabalin is a **first-line pharmacological treatment** for fibromyalgia, effective in reducing widespread pain and improving sleep by modulating neurotransmitter release. *NSAIDs*- NSAIDs primarily target **inflammatory pain**, but fibromyalgia is a **non-inflammatory chronic pain syndrome**.- They are generally **ineffective** for the widespread, neuropathic-like pain experienced in fibromyalgia. *Corticosteroids*- Corticosteroids are powerful **anti-inflammatory drugs**, and like NSAIDs, are not indicated for fibromyalgia as it is not an inflammatory condition.- Their long-term use carries significant side effects, making them unsuitable for chronic non-inflammatory pain. *Methotrexate*- Methotrexate is a **disease-modifying anti-rheumatic drug (DMARD)** used for autoimmune inflammatory conditions, such as rheumatoid arthritis.- It has **no role** in the treatment of fibromyalgia, which lacks an underlying autoimmune or inflammatory pathology. *Physiotherapy*- While **physical therapy and exercise** are critical components of a comprehensive fibromyalgia management plan, they are often initiated alongside or after pharmacological intervention.- For severe symptoms, a **pharmacological agent** is typically considered part of the initial treatment strategy to help manage pain and improve functional capacity before other therapies can be fully effective.

Question 39: A 48-year-old man presents with progressive muscle weakness affecting his shoulders and hips. He has difficulty rising from chairs and climbing stairs. CK is 2800 U/L. Muscle biopsy shows inflammatory infiltrates. What is the most appropriate treatment?

A. Physiotherapy alone
B. Prednisolone (Correct Answer)
C. Methotrexate
D. Azathioprine
E. Immunoglobulin

Explanation: ***Prednisolone***- **First-line therapy** for idiopathic inflammatory myopathies (IIMs) such as **polymyositis** or **dermatomyositis**, targeting the underlying autoimmune inflammation.- High-dose oral **glucocorticoids** are crucial for rapid suppression of the immune response, aiming to reduce inflammation shown by the muscle biopsy and lower the highly elevated **CK levels**.*Physiotherapy alone*- While essential for maintaining muscle function and preventing contractures, **physiotherapy** is only supportive and does not address the underlying severe autoimmune inflammation.- Given the highly elevated **CK** and active inflammation on biopsy, the patient requires immediate and potent **immunosuppressive medication** to halt muscle destruction.*Methotrexate*- This is an immunosuppressive agent typically used as a **second-line** or **steroid-sparing agent** in chronic or refractory inflammatory myopathy, not usually the initial monotherapy.- It has a slower onset of action compared to high-dose corticosteroids, making it unsuitable for initiating treatment in active, severe myositis.*Azathioprine*- Similar to methotrexate, **azathioprine** is primarily employed as a steroid-sparing agent or for maintenance therapy in patients with chronic or relapsing inflammatory myopathies.- It is not the initial drug of choice because **glucocorticoids** provide a faster and stronger initial immunosuppressive effect critical for halting acute muscle damage.*Immunoglobulin*- **Intravenous Immunoglobulin (IVIG)** is reserved for patients with severe, refractory disease, or those with contraindications to high-dose steroids (e.g., in some cases of dermatomyositis).- It is typically administered after the failure of primary therapy with **corticosteroids** and conventional immunosuppressants.

Question 40: A 32-year-old man presents with acute severe abdominal pain and vomiting. He has a family history of similar episodes. Serum amylase is normal but urinary porphobilinogen is markedly elevated. What is the most appropriate acute treatment?

A. IV fluids and analgesia
B. High carbohydrate diet
C. Hemin therapy
D. Avoid precipitating drugs
E. All of the above (Correct Answer)

Explanation: ***All of the above***- The clinical presentation of acute severe abdominal pain, vomiting, family history, and markedly elevated **urinary porphobilinogen (PBG)** is highly indicative of an acute porphyria attack.- Effective management of a severe acute porphyria attack necessitates a comprehensive approach encompassing **specific therapy** (hemin), **metabolic suppression** (high carbohydrate intake), and **intensive supportive care** (IV fluids, analgesia, and strict avoidance of precipitating factors).*IV fluids and analgesia*- **Intravenous fluids** are crucial to correct dehydration and address electrolyte imbalances, especially **hyponatremia**, which can aggravate the neurological symptoms frequently seen in porphyria.- **Opioid analgesics** are indispensable for managing the intense, often debilitating, visceral abdominal pain characteristic of an acute porphyria attack, as NSAIDs are typically inadequate and some may even be contraindicated.*High carbohydrate diet*- **High carbohydrate loading**, usually administered as an intravenous dextrose infusion, is a fundamental component of acute porphyria treatment.- Carbohydrates effectively **repress the activity of hepatic delta-aminolevulinic acid (ALA) synthase**, the rate-limiting enzyme in heme biosynthesis, thereby diminishing the production of neurotoxic porphyrin precursors like **ALA** and **PBG**.*Hemin therapy*- **Hemin (hematin) infusion** represents the most specific and definitive treatment for severe acute porphyria attacks.- Administered intravenously, **hemin directly supplies exogenous heme**, which subsequently downregulates **hepatic ALA synthase** activity, leading to a rapid reduction in the levels of toxic precursors **ALA** and **PBG**.*Avoid precipitating drugs*- Many medications, including various **barbiturates**, sulfonamides, and certain anticonvulsants, are known to induce **hepatic cytochrome P450 enzymes**.- This enzyme induction escalates the demand for heme, which in turn upregulates **ALA synthase**, thereby triggering or exacerbating an acute porphyria attack; thus, their strict avoidance is critical.

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