Clinical Manifestations and Presentation of Diseases Practice Questions

Q: Which of the following is not typically associated with cystic fibrosis?

Renal failure. ***Renal failure*** - **Renal failure** is not a typical manifestation or complication of **cystic fibrosis (CF)**. The CFTR protein primarily affects epithelial cells in organs like the lungs, pancreas, liver, and intestines, not the kidneys. - While CF patients may experience **electrolyte imbalances** due to excessive salt loss, this rarely progresses to **kidney failure** as a direct result of the disease itself. *Infertility* - **Infertility** is commonly associated with CF, particularly in males due to **congenital bilateral absence of the vas deferens (CBAVD)**, which is found in over 95% of male CF patients [1]. - In females, CF can cause **viscous cervical mucus** and nutritional deficiencies, leading to challenges with conception [1]. *Azoospermia* - **Azoospermia**, specifically **obstructive azoospermia**, is a direct consequence of **congenital bilateral absence of the vas deferens (CBAVD)**, which is highly prevalent in male CF patients [1]. - This condition prevents sperm from reaching the ejaculate, despite normal sperm production in the testes. *Nasal polyps* - **Nasal polyps** are a common feature in patients with **cystic fibrosis**, often leading to **chronic rhinosinusitis** and nasal obstruction. - This is due to the dysfunctional CFTR protein leading to abnormal mucus production and inflammation in the nasal passages [1].

Q: Which of the following is the most characteristic symptom of obstruction of the inferior vena cava?

Paraumblical dilatation. ***Paraumbilical dilatation*** - Obstruction of the **inferior vena cava (IVC)** leads to collateral circulation through superficial veins, especially around the umbilicus, causing **paraumbilical dilatation** (caput medusae). - This collateral flow bypasses the obstructed IVC to return blood to the superior vena cava system. *Thoraco-epigastric dilatation* - This pattern of collateral circulation is more characteristic of **superior vena cava (SVC) obstruction**, where blood from the upper body needs to bypass the SVC. - The dilated veins would typically be seen on the chest and upper abdomen, draining towards the femoral veins. *Oesophageal varices* - **Oesophageal varices** are typically caused by **portal hypertension** [1], often secondary to liver cirrhosis, not directly by IVC obstruction. - They represent portosystemic collateral veins, diverging from the portal system to the systemic circulation [1]. *Haemorrhoids* - **Haemorrhoids** are dilated veins in the anal canal, most commonly caused by **straining** during defecation or conditions that increase intra-abdominal pressure [2]. - While they can be a sign of portal hypertension [1], **IVC obstruction** is not their primary or most characteristic cause.

Q: A young male patient presenting with LDL of 600 mg/dl and triglycerides of 160 mg/dl would most likely exhibit what finding on physical examination?

Tendon xanthoma. ***Tendon xanthoma*** - Markedly elevated **LDL (600 mg/dL)** with relatively normal triglycerides is characteristic of **familial hypercholesterolemia**, a condition frequently associated with **tendon xantomas**. [1] - **Tendon xanthomas** are cholesterol deposits commonly found in the Achilles tendons or extensor tendons of the hands due to chronic hypercholesterolemia. [1] *Lipemia retinalis* - **Lipemia retinalis** occurs when triglyceride levels are extremely high, typically above **1,000 mg/dL**, causing a whitish appearance of retinal blood vessels. [1] - The patient's triglyceride level of **160 mg/dL** is within the normal range and would not lead to lipemia retinalis. *Eruptive tuberous xanthomas* - **Eruptive tuberous xanthomas** are associated with very high triglyceride levels, often seen in severe **hypertriglyceridemia** (e.g., genetic lipoprotein lipase deficiency) or poorly controlled diabetes. - These are typically small, reddish-yellow papules appearing suddenly on extensor surfaces, which is not indicated by the patient's normal triglyceride level. *Xanthelasma* - **Xanthelasma** are yellowish plaques that occur on the eyelids, and while associated with hyperlipidemia, they are not specific to the severity or type of dyslipidemia presented. - They are more common in older adults and can occur even with normal lipid levels, making them less indicative of the specific lipid profile mentioned.

Q: Which of the following conditions is least likely to cause pruritus?

Hyperparathyroidism. ***Hyperparathyroidism*** - While hyperparathyroidism can cause some **non-specific symptoms** like bone pain and weakness, **pruritus is not a typical** or common direct symptom associated with it [2]. - The elevated **calcium** and **parathyroid hormone** levels do not directly induce the sensation of itching in most patients [3]. *Polycythemia rubra vera* - This myeloproliferative disorder is well-known for causing **aquagenic pruritus**, which is itching that occurs after contact with water [1]. - The pruritus is thought to be mediated by **histamine release** from an increased mast cell burden. *Uraemia* - **Chronic kidney disease**, especially in its advanced stages leading to uraemia, frequently causes **uraemic pruritus** [1]. - This itching is often severe, generalized, and can significantly impact the patient's **quality of life**, thought to be due to accumulation of toxins. *Hyperthyroidism* - Hyperthyroidism can lead to generalized **pruritus** due to increased **cutaneous blood flow**, elevated skin temperature, and changes in metabolic rates [1]. - The increased metabolic activity and vasodilation can contribute to **skin irritation** and itching.

Q: Which of the following is a characteristic symptom of Henoch-Schönlein Purpura?

Gastrointestinal bleeding. ***Gastrointestinal bleeding*** - **Gastrointestinal symptoms**, including bleeding, are common in **Henoch-Schönlein Purpura (HSP)** due to **IgA deposition** in the gut vasculature, leading to inflammation and hemorrhage. - Patients may experience colicky abdominal pain, nausea, vomiting, and bloody stools. *Low platelet count* - HSP is primarily a **vasculitis**, not a primary platelet disorder; therefore, patients typically have a **normal platelet count** [1]. - **Thrombocytopenia** would suggest a different diagnosis, such as **idiopathic thrombocytopenic purpura (ITP)** or another coagulation disorder. *Bleeding in the brain* - While a very rare complication, **intracranial hemorrhage** is not a characteristic or common symptom of HSP. - Most bleeding manifestations in HSP are related to the **skin**, **gut**, and sometimes **kidneys**. *Purpuric rash on buttocks and legs* - A **palpable purpuric rash** on the **buttocks and lower extremities** is indeed a hallmark symptom of HSP, but it is a skin manifestation, not a type of bleeding, and the question asks about a characteristic bleeding symptom. - This rash results from **leukocytoclastic vasculitis** with **IgA deposition** in small blood vessels [1].

Q: Mask-like appearance of the face, narrowing of the aperture, and rigidity of the mucosa are characteristic of:

Progressive systemic sclerosis. ### Progressive systemic sclerosis - This condition is characterized by **fibrosis** of the skin and internal organs, leading to the **mask-like appearance** of the face due to skin tightening [1]. - The **narrowing of the oral aperture** (microstomia) and **rigidity of the oral mucosa** are also common manifestations due to collagen deposition [1]. *Tetanus* - Tetanus causes muscle spasms and rigidity, notably **trismus** (lockjaw) which is a forceful closing of the jaw, not a narrowing of the opening itself. - It does not cause a mask-like facial appearance or characteristic mucosal rigidity but rather strong, painful muscle contractions. *Multiple sclerosis* - This is a **demyelinating disease** affecting the central nervous system, leading to neurological symptoms like motor weakness, sensory disturbances, and vision problems. - It does not involve the characteristic facial or oral changes described in the question. *Osteomalacia* - This condition involves **defective bone mineralization** due to vitamin D deficiency, leading to bone pain and muscle weakness. - It primarily affects the skeletal system and does not cause facial changes or mucosal rigidity.

Q: Which of the following is not a defining feature of Paterson-Brown-Kelly syndrome?

Achalasia. *Dysphagia* - **Dysphagia** is a symptom associated with Paterson-Brown-Kelly syndrome as it results from the presence of **mucosal webs**. - It contributes to the difficulty in swallowing due to obstructive lesions in the esophagus. *Cheilosis* - **Cheilosis** (or angular cheilitis) can occur in patients with iron deficiency anemia, which is part of the syndrome. - However, it is not one of the classical components of the triad established for this syndrome. *Mucosal webs* - **Mucosal webs** are a key feature of Paterson-Brown-Kelly syndrome. - They lead to an **obstruction** in the esophagus, which is intrinsic to the condition. *Iron deficiency anemia* - **Iron deficiency anemia** is a significant aspect of Paterson-Brown-Kelly syndrome, as it accompanies the pathophysiology of the mucosal webs. - It is one of the clinical features that result from chronic bleeding or malabsorption.

Q: Which of the following conditions most commonly causes odynophagia?

Monilial esophagitis. ***Monilial esophagitis*** - **Monilial esophagitis**, caused by *Candida albicans*, is a common opportunistic infection, especially in **immunocompromised individuals**, and often causes severe odynophagia. - The inflammatory exudates and **pseudomembranes** formed by *Candida* directly irritate the esophageal mucosa, leading to significant pain during swallowing. *Achalasia* - Achalasia is a primary esophageal motility disorder characterized by **incomplete relaxation of the lower esophageal sphincter** and loss of esophageal peristalsis [1]. - Its main symptoms are **dysphagia** (difficulty swallowing) and regurgitation, but **odynophagia** (painful swallowing) is not a common or prominent feature [1]. *Herpes esophagitis* - Herpes esophagitis, caused by the **Herpes simplex virus (HSV)**, typically presents with **discrete, shallow ulcers** on the esophageal mucosa. - While it can cause odynophagia, it is generally less common than monilial esophagitis and often associated with more scattered lesions rather than widespread inflammation. *Barrett's esophagus* - Barrett's esophagus is a metaplastic change in the esophageal lining, where **squamous epithelium is replaced by columnar epithelium** due to chronic acid reflux. - It is often **asymptomatic** or presents with symptoms of **GERD** (heartburn, regurgitation), but **odynophagia** is not a typical or common symptom associated with the condition itself.

Q: A chronic smoker presents with mild haemoptysis, and also reports a history of hypertension and obesity. Laboratory data reveal raised ACTH levels that are not suppressed by dexamethasone, leading to a diagnosis of Cushing's syndrome. Which of the following is the cause of Cushing's syndrome in this patient?

Ectopic ACTH secreting tumor. Ectopic ACTH secreting tumor - The combination of **hemoptysis** in a **chronic smoker** points towards a **lung tumor**, which can produce ACTH ectopically [1]. - **High ACTH** levels that are **not suppressed by dexamethasone** are characteristic of ectopic ACTH production, as these tumors are generally not regulated by the normal feedback mechanisms [1]. *MEN I* - **Multiple Endocrine Neoplasia type 1 (MEN I)** often includes pituitary tumors, but the presentation with hemoptysis and the specific lack of ACTH suppression point away from a pituitary-driven Cushing's. - MEN I is associated with tumors of the **parathyroid**, **pituitary**, and **pancreatic islet cells**, and while it can cause Cushing's, the **hemoptysis** is a strong differentiator. *Pituitary adenoma* - While a **pituitary adenoma** (Cushing's disease) causes ACTH-dependent Cushing's, the ACTH levels are typically **suppressed by high-dose dexamethasone**. - The patient's history of **hemoptysis** in a smoker strongly suggests a primary pulmonary pathology, not a pituitary tumor [1]. *Adrenal cortical adenoma* - An **adrenal cortical adenoma** causes **ACTH-independent Cushing's syndrome**, meaning ACTH levels would be **low or undetectable**, not elevated [1], [2]. - The primary problem in this case is high ACTH, ruling out adrenal adenoma as the direct cause of Cushing's syndrome [2].

Question 1

Which of the following is not typically associated with cystic fibrosis?

Accepted Answer

Renal failure

Answer

Infertility

Answer

Azoospermia

Answer

Nasal polyps

Question 2

Which of the following is the most characteristic symptom of obstruction of the inferior vena cava?

Accepted Answer

Paraumblical dilatation

Answer

Thoraco-epigastric dilatation

Answer

Haemorrhoides

Answer

Oesophageal varices

Question 3

Carney triad consists of:

Accepted Answer

Gastric GIST, pulmonary chondroma, extra-adrenal paraganglioma

Answer

Gastric leiomyoma, pulmonary hamartoma, adrenal adenoma

Answer

Gastric adenocarcinoma, bronchial carcinoid, pheochromocytoma

Answer

Gastric lymphoma, pulmonary fibrosis, adrenal cortical carcinoma

Question 4

A young male patient presenting with LDL of 600 mg/dl and triglycerides of 160 mg/dl would most likely exhibit what finding on physical examination?

Accepted Answer

Tendon xanthoma

Answer

Lipemia retinalis

Answer

Eruptive tuberous xanthomas

Answer

Xanthelasma

Question 5

Which of the following conditions is least likely to cause pruritus?

Accepted Answer

Hyperparathyroidism

Answer

Uraemia

Answer

Polycythemia rubra vera

Answer

Hyperthyroidism

Question 6

Which of the following is a characteristic symptom of Henoch-Schönlein Purpura?

Accepted Answer

Gastrointestinal bleeding

Answer

Purpuric rash on buttocks and legs

Answer

Low platelet count

Answer

Bleeding in the brain

Question 7

Mask-like appearance of the face, narrowing of the aperture, and rigidity of the mucosa are characteristic of:

Accepted Answer

Progressive systemic sclerosis

Answer

Tetanus

Answer

Multiple sclerosis

Answer

Osteomalacia

Question 8

Which of the following is not a defining feature of Paterson-Brown-Kelly syndrome?

Accepted Answer

Achalasia

Answer

Mucosal Webs

Answer

Cheilosis

Answer

Dysphagia

Question 9

Which of the following conditions most commonly causes odynophagia?

Accepted Answer

Monilial esophagitis

Answer

Herpes esophagitis

Answer

Achalasia

Answer

Barrett's esophagus

Question 10

A chronic smoker presents with mild haemoptysis, and also reports a history of hypertension and obesity. Laboratory data reveal raised ACTH levels that are not suppressed by dexamethasone, leading to a diagnosis of Cushing's syndrome. Which of the following is the cause of Cushing's syndrome in this patient?

Accepted Answer

Ectopic ACTH secreting tumor

Answer

MEN I

Answer

Pituitary adenoma

Answer

Adrenal cortical adenoma

Clinical Manifestations and Presentation of Diseases — MCQs

Clinical Manifestations and Presentation of Diseases — MCQs

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