Differentials

Common

Lung cancer

History

cough, shortness of breath, smoking history, asbestos exposure, hemoptysis, chest pain, wheezing; with spread into the neck, may have features of superior vena cava syndrome (facial plethora and distended neck veins when arms raised above the head) or even hoarseness

Exam

weight loss, respiratory distress common; may be absent or decreased breath sounds, dullness to percussion, mediastinal shift; other signs depend on spread and type of tumor​

1st investigation
  • CXR:

    nodule, mass, infiltrates, pleural effusion, hilar lymphadenopathy

    More
  • contrast-enhanced chest CT:

    nodule, mass, infiltrates, pleural effusion, hilar lymphadenopathy

    More
Other investigations
  • bronchoscopy and biopsy:

    confirms tissue diagnosis

    More
  • PET scan chest:

    further evaluates location and extent of primary tumor; evaluates for distant metastases

    More
  • sputum cytology:

    malignant cells in sputum

    More

Bronchiectasis

History

history of recurrent respiratory tract infections; cough producing large amounts of mucopurulent sputum, diurnal variation (e.g., worse in the morning), positional worsening; dyspnea, wheezing, hemoptysis

Exam

crackles and wheezes, predominantly over lower lobes

1st investigation
  • CXR:

    thickening of bronchi and bronchioles, seen as ill-defined perihilar linear densities associated with indistinctness of central pulmonary artery margins

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  • high-resolution CT scan chest:

    bronchial dilation (internal bronchial diameter greater than diameter of accompanying bronchial artery, known as signet ring formation) and lack of bronchial tapering on sequential slices

    More
Other investigations
  • spirometry:

    irreversible obstructive defect, with FEV₁:forced vital capacity ratio <70%

Lung abscess

History

presence of risk factors (immunosuppression, poor oral hygiene, drug misuse, alcohol misuse, seizure disorder, stroke, lung cancer); cough with purulent sputum and foul odor, fever, chills and sweats, pleuritic chest pain, possibly hemoptysis

Exam

tachypnea, fever, dyspnea, dullness to percussion, whispered pectoriloquy and bronchophony on auscultation

1st investigation
  • CXR:

    cavitary lesion with air fluid level, usually in posterior segment of right upper lobe

  • CBC:

    leukocytosis

  • blood culture:

    positive for infectious organism

Other investigations
  • chest CT:

    localizes position and size of collection

  • bronchoscopy:

    localizes position and size of collection

    More

Empyema

History

recent pneumonia, fever, cough, purulent sputum production, chest pain

Exam

febrile, toxic patient, dullness on percussion, absence of breath sounds over affected area

1st investigation
  • CXR:

    anteroposterior and lateral films show fluid collection

    More
  • CBC:

    leukocytosis

  • sputum culture:

    positive growth of offending organism

  • blood culture:

    positive for infectious organism

    More
  • diagnostic thoracocentesis:

    aspiration of purulent fluid; may be positive Gram stain or culture of pleural fluid.

    More
Other investigations
  • chest CT:

    associated pulmonary consolidation or abscess

    More
  • chest ultrasonography:

    distinguishes loculated effusions from an infiltrate

    More

Congenital heart disease

History

poor feeding in infants, faltering growth, shortness of breath, diaphoresis, irritability, recurrent lung infections; adults who survive have symptoms of heart failure (dyspnea, peripheral edema, fatigue) or differential cyanosis (pink upper extremities and cyanotic lower extremities as can occur in coarctation of the aorta)

Exam

various; cardiac murmur, central cyanosis, dyspnea, failure to thrive

1st investigation
  • CXR:

    may reveal abnormal cardiac silhouette

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  • transthoracic echocardiogram:

    variable; findings depend on underlying cardiac condition

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Other investigations
  • cardiac catheterization:

    pulmonary stenosis and ventricular septal defects may be seen on angiogram; provides hemodynamic data such as systemic right ventricular pressure and right-to-left shunt

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Infective endocarditis

History

fever, fatigue, chills, anorexia, night sweats, myalgia, and/or arthralgia

Exam

majority febrile, new or changing heart murmur, petechiae on mucosae and extremities, splinter hemorrhages below nails, Osler nodes on digits, Janeway lesions, hepatosplenomegaly

1st investigation
  • blood cultures:

    growth of infecting organism

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  • CBC:

    anemia and leukocytosis

  • erythrocyte sedimentation rate:

    markedly elevated

  • urinalysis:

    abnormal sediment

    More
  • echocardiogram:

    vegetations in mitral, tricuspid, aortic, or pulmonary valve; seen as nodular structures

    More
Other investigations

    Hypersensitivity pneumonitis (extrinsic allergic alveolitis)

    History

    exposure to nonhuman protein or chemicals such as epoxy resins, shortness of breath, nonproductive or productive cough, fever, malaise, weight loss, bibasilar or diffuse rales

    Exam

    dyspnea, cough, febrile, malaise, weight loss, bibasilar or diffuse rales on auscultation

    1st investigation
    • immunologic response to causative antigen:

      antibody to the putative antigen positively identified through immunologic blood test

    • CBC:

      leukocytosis; normocytic, normochromic anemia

    • erythrocyte sedimentation rate:

      elevated

    • albumin:

      low

    • CXR:

      patchy, nodular infiltrates are observed in acute and subacute hypersensitivity pneumonitis; fibrosis in chronic hypersensitivity pneumonitis

    • high-resolution CT scan chest:

      ground-glass shadowing/attenuation and poorly defined micronodules; features of chronic hypersensitivity pneumonitis include mosaic attenuation, centrilobular nodules, and relative basal sparing

    • diffusing lung capacity of carbon monoxide:

      decreased

    Other investigations
    • pulmonary function tests:

      restricted pattern in acute hypersensitivity pneumonitis; mixed restrictive and obstructive features in subacute or chronic hypersensitivity pneumonitis

    • bronchoalveolar lavage:

      positive antibody and lymphocytosis (elevated CD8+ cells)

    • lung biopsy:

      bronchocentric infiltrate consisting of lymphocytes, plasma cells, neutrophils, foamy macrophages, and noncaseating granulomas; in later stages interstitial fibrosis predominates

    Uncommon

    Cystic fibrosis

    History

    variable; mainly presents in infancy or childhood; chronic cough, sputum production, persistent chest symptoms, wheezing; failure to thrive, diarrhea, abdominal pain, prolonged neonatal jaundice; infertility due to azoospermia

    Exam

    variable; rhinitis, nasal polyps, tachypnea, respiratory distress, wheeze, cough, hyperresonance on chest percussion; abdominal distention, organomegaly, rectal prolapse, signs of malabsorption (failure to thrive, abdominal tenderness, steatorrhea), salivary gland swelling, and/or scoliosis may also be present

    1st investigation
    • sweat test:

      increased chloride in sweat; >60 mEq/L is diagnostic

      More
    Other investigations
    • gene analysis:

      mutations in the CFTR gene

      More

    Interstitial pulmonary fibrosis

    History

    smoking history, progressive exertional dyspnea, chronic cough (occasionally productive), hemoptysis, fatigue, weakness, weight loss

    Exam

    tachypnea, end-expiratory rales at the bases, wheezing; pulmonary hypertension and right heart failure occurs in severe disease

    1st investigation
    • CXR:

      reticular and/or nodular opacities are typical; honeycombing and cyst formation in advanced disease

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    • high-resolution CT scan chest:

      fibrosis of alveoli and lung parenchyma

      More
    Other investigations
    • spirometry:

      restrictive pattern with low forced vital capacity (FVC) and normal or increased FEV₁:FVC ratio

    • lung biopsy:

      variable

      More

    Sarcoidosis

    History

    chronic cough, dyspnea; usually extrapulmonary symptoms: arthralgia, eye pain, blurred vision, painful skin lesions

    Exam

    variable; lymphadenopathy, wheezing, rhonchi, uveitis, arthritis or periarthritis, organomegaly, painful skin papules or nodules, erythema nodosum

    1st investigation
    • CXR:

      hilar and/or paratracheal adenopathy with upper-lobe-predominant, bilateral infiltrates

      More
    • high-resolution CT scan chest:

      delineates type of hilar shadows, detects interstitial lung disease and pulmonary fibrosis

      More
    • biopsy of specific cutaneous lesion (if evident):

      noncaseating granuloma

      More
    Other investigations
    • biopsy from viscera:

      noncaseating granuloma

      More

    Asbestosis

    History

    history of prolonged asbestos exposure; progressive dyspnea; dry cough with chest discomfort

    Exam

    rales, described as cellophane or velcro rales, initially heard in end-inspiratory phase

    1st investigation
    • CXR:

      basal reticulonodular infiltrates, pleural thickening; honeycomb appearance in advanced disease

      More
    • high-resolution CT scan chest:

      delineates pleural-based anomalies; subpleural linear opacities parallel to pleura, pleural plaques

      More
    Other investigations
    • tissue biopsy via bronchoscopy:

      asbestos bodies

      More

    Pleural mesothelioma

    History

    history of asbestos exposure; older adult patient; recent-onset shortness of breath and nonpleuritic chest pain; cough, weight loss, weakness may also occur

    Exam

    dullness on percussion, absence of breath sounds over affected area

    1st investigation
    • CXR:

      pleural-based mass; unilateral pleural effusion; irregular pleural thickening

      More
    • thoracentesis for pleural biopsy and cytology:

      variable

      More
    Other investigations
    • chest MRI:

      degree of tumor extension, especially to the chest wall and diaphragm

      More

    Cavitating pulmonary tuberculosis (TB)

    History

    fever, chills, chronic cough, weight loss, night sweats; history of travel to endemic areas, HIV infection, or immunosuppression​

    Exam

    variety of chest signs, depends on severity of lung involvement: may include tachypnea, decreased breath sounds, crackles, dullness to percussion

    1st investigation
    • CXR:

      miliary mottling, cavitary and/or apical fibrocavitary changes. May demonstrate atelectasis from airway compression, pleural effusion, consolidation, pulmonary infiltrates, mediastinal or hilar lymphadenopathy, upper zone fibrosis.

      More
    • sputum acid-fast bacilli smear and culture:

      presence of acid-fast bacilli (Ziehl-Neelsen stain) in specimen

      More
    • nucleic acid amplification tests (NAAT):

      positive for M tuberculosis

      More
    Other investigations
    • bronchoscopy and bronchoalveolar lavage:

      positive for acid-fast bacilli

      More
    • lateral flow urine lipoarabinomannan (LF-LAM) assay:

      positive

      More
    • contrast-enhanced chest computed tomography scan:

      primary TB: mediastinal tuberculous lymphadenitis with central node attenuation and peripheral enhancement, delineated cavities; postprimary TB: centrilobular nodules and tree-in-bud pattern

      More

    Pulmonary metastases

    History

    symptoms may be absent in multiple metastases; dyspnea common; sudden-onset dyspnea indicates hemorrhage or pneumothorax; wheezing or hemoptysis suggests endobronchial metastases; extension to pleura may cause pleuritic chest pain; patients may have paresthesias (due to associated hypercalcemia, paraproteinemia, or vasculitis)

    Exam

    dyspnea, wheezing, respiratory distress

    1st investigation
    • CXR:

      nodules or infiltration

    Other investigations
    • high-resolution CT scan chest:

      delineates small nodules

      More
    • transthoracic biopsy:

      histology of the primary tumor

      More

    Atrial myxoma

    History

    dyspnea, paroxysmal nocturnal dyspnea, fatigue, dizziness, syncope, fever, weight loss, hemoptysis, sudden death (due to embolization anywhere in arterial system)

    Exam

    raised jugular venous pressure, loud first heart sound, delayed pulmonic component of the second heart sound, tumor plop (early diastolic sound), fever, cyanosis, rash, petechiae

    1st investigation
    • CBC:

      hemoglobin and hematocrit decreased; leukocytosis, thrombocytopenia

      More
    • CXR:

      cardiomegaly, pulmonary edema, occasionally calcification in cardiac myxoma

    • echocardiogram:

      seen as a dumbbell-shaped configuration; possibly associated lipomatous hypertrophy of interatrial septum

      More
    Other investigations
    • cardiac catheterization:

      variable

      More
    • biopsy:

      gelatinous growth with nests of spindle cells

    Axillary artery aneurysm

    History

    usually sudden onset; coolness and numbness of affected hand, weakness and heaviness in affected arm, symptoms worsen on exercise

    Exam

    unilateral clubbing, pallor, coolness of affected arm and hand, slow capillary refill, peripheral pulses in affected arm and hand may be normal

    1st investigation
    • Doppler ultrasonography:

      turbulent, pulsatile flow within the structure, contiguous with brachial artery distally

    Other investigations
    • CT arteriography:

      exact level of bifurcation and extent of aneurysm demonstrated

      More

    Brachial arteriovenous malformations

    History

    limb hypertrophy if chronic, discoloration of affected limb

    Exam

    unilateral clubbing, soft boggy swelling on affected limb, bruit heard over swelling, partially compressible

    1st investigation
    • Doppler ultrasonography:

      vascular anomalous flow

    Other investigations
    • magnetic resonance angiography:

      abnormal early venous filling during arterial phase of imaging

      More
    • angiography:

      delineation of arteriovenous anomaly

      More

    Thyroid acropachy

    History

    history of autoimmune thyrotoxicosis (usually Graves disease, but may be present in Hashimoto thyroiditis); symptoms of thyrotoxicosis (heat intolerance, sweating, weight loss, palpitations, scalp hair loss, irritability)

    Exam

    soft-tissue swelling of hands and feet, signs of thyrotoxicosis (exophthalmos, pretibial myxedema, goiter, tachycardia, tremor)

    1st investigation
    • thyroid-stimulating hormone (TSH):

      suppressed

    • serum free T4:

      elevated

    Other investigations
    • serum free or total T3:

      elevated

      More

    Acromegaly

    History

    headache, snoring, visual field defects, hyperhidrosis, coarsening of facial features, joint pain and dysfunction, fatigue, increased appetite, polyuria/polydipsia

    Exam

    acromegalic facies (frontal bossing, thickening of nose, prognathism, macroglossia), hirsutism, oily skin, enlarged hands with sausage-shaped fingers, organomegaly, hypertension, arrhythmias, thyroid anomalies, arthritis

    1st investigation
    • serum insulin-like growth factor 1 levels:

      elevated

      More
    • oral glucose tolerance test:

      nadir GH value >1 microgram/L (>1 nanogram/mL)

      More
    • random serum growth hormone (GH):

      elevated

      More
    Other investigations
    • pituitary MRI or CT scan:

      characteristic features of pituitary adenoma

      More
    • chest and/or abdominal CT scan:

      tumor localization

      More

    Severe secondary hyperparathyroidism

    History

    bone and joint pain, muscle weakness, history of renal disease

    Exam

    myopathy, osteomalacia, xerosis

    1st investigation
    • serum parathyroid hormone levels:

      elevated

      More
    • serum calcium:

      reduced or normal

    • vitamin D levels:

      reduced

    Other investigations

      Hodgkin lymphoma

      History

      may be asymptomatic; fever, chills, night sweats, weight loss, chest pain, cough, dyspnea, pruritus, bone pains

      Exam

      rubbery lymph nodes in neck, axillae, and inguinals; hepatosplenomegaly, Waldeyer ring involvement (tonsils, nasopharynx, base of tongue)

      1st investigation
      • CBC with differential:

        low hemoglobin, WBC count, and platelets

        More
      • erythrocyte sedimentation rate (ESR):

        elevated

      • LDH:

        elevated

        More
      • CXR:

        mediastinal mass; large mediastinal adenopathy

      Other investigations
      • PET scan:

        delineates lymphoid tissue

        More
      • lymph node and/or bone marrow biopsy:

        Hodgkin cells within an appropriate background cellular milieu

        More
      • immunohistochemical studies:

        classically CD30-positive

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      Disseminated chronic myeloid leukemia

      History

      fatigue, anorexia, weight loss, abnormal bleeding or bruising; left shoulder pain (indicates splenic infarction or perisplenitis)

      Exam

      pallor, plethora, abdominal distention due to splenomegaly, bruising; occasionally tender purple papules on the body accompanied by fever (Sweet syndrome)

      1st investigation
      • CBC:

        elevated WBC, anemia, thrombocytosis

      • peripheral blood smear:

        mature or maturing myeloid cells, elevated basophils and eosinophils

        More
      Other investigations
      • fluorescent in situ hybridization test:

        detects BCR-ABL gene rearrangements

        More
      • bone marrow biopsy and karyotyping:

        granulocytic hyperplasia; presence of Philadelphia chromosome

        More

      Ulcerative colitis

      History

      age 15-45 years, bloody diarrhea, abdominal pain, and bloating

      Exam

      abdominal tenderness and distention, extraintestinal manifestations including peripheral arthritis, sacroiliitis, pyoderma gangrenosum, erythema nodosum

      1st investigation
      • colonoscopy and biopsy:

        continuous uniform inflammation that always involves the rectum; normal terminal ileum (or mild "backwash" ileitis in pancolitis)

        More
      Other investigations
      • CBC:

        microcytic anemia, thrombocytosis

      • erythrocyte sedimentation rate:

        elevated

      • autoantibodies:

        negative anti-Saccharomyces cerevisiae antibody and positive perinuclear antineutrophil cytoplasmic antibody

      Crohn disease

      History

      crampy abdominal pain, intermittent diarrhea, bloody diarrhea if colitis a feature, weight loss, fatigue

      Exam

      aphthous ulcers, evidence of weight loss, pallor, abdominal tenderness, abdominal mass, perianal fistula, perirectal abscess, anal fissure, perianal skin tags; extraintestinal manifestations including iritis, arthritis, sacroiliitis, erythema nodosum, pyoderma gangrenosum

      1st investigation
      • upper gastrointestinal and small-bowel series:

        thickening and distortion of valvulae conniventes due to edema and ulceration

        More
      Other investigations
      • colonoscopy and biopsy:

        aphthous ulcers, mucosal edema, cobblestoning, luminal narrowing; discontinuous, with intermittent areas of normal-appearing bowel (skip lesions)

        More
      • CBC:

        anemia; leukocytosis

        More
      • erythrocyte sedimentation rate:

        elevated

      • autoantibodies:

        positive anti-Saccharomyces cerevisiae antibody and negative perinuclear antineutrophil cytoplasmic antibody

      Primary biliary cholangitis

      History

      middle-aged women, personal or family history of autoimmune disease or primary biliary cholangitis, history of hypercholesterolemia, pruritus, fatigue, sleep disturbance, dry eyes and mouth (sicca syndrome), postural dizziness/blackouts, right upper quadrant discomfort

      Exam

      hepatomegaly, skin hyperpigmentation, splenomegaly, jaundice, xanthelasmata

      1st investigation
      • LFTs:

        elevated bilirubin, gamma glutamyl transferase, and alk phos

      • antimitochondrial antibodies:

        present

        More
      Other investigations

        Cirrhosis

        History

        presence of risk factors (alcohol misuse, intravenous drug use, unprotected intercourse, obesity, blood transfusion); may be asymptomatic or have nonspecific constitutional symptoms such as fatigue, weakness, weight loss

        Exam

        jaundice, hepatomegaly, nodularity of liver on palpation, ascites, signs of end-stage liver failure

        1st investigation
        • LFTs:

          deranged

          More
        • albumin:

          reduced

        • prothrombin time:

          prolonged

          More
        • abdominal ultrasound:

          early stages: enlarged smooth liver; subsequently: coarse echotexture; advanced disease: small liver with surface nodularity, ascites, splenomegaly, increased diameter of portal vein (≥13 mm) or collateral vessels

          More
        Other investigations
        • liver biopsy:

          architectural distortion of liver parenchyma with formation of regenerative nodules

          More

        Thyroid cancer

        History

        most commonly affects women; painless palpable solitary thyroid nodule; hoarseness or dysphagia may occur if recurrent laryngeal nerve involved or vocal cord compressed; history of head and neck irradiation

        Exam

        palpable thyroid nodule (particularly if hard and fixed), cervical lymphadenopathy

        1st investigation
        • thyroid ultrasonography:

          detects cysts and structure of thyroid mass

        • fine needle aspiration (FNA) biopsy:

          cytology confirms malignant features

          More
        Other investigations

          Thymus cancer

          History

          history of myasthenia gravis, fatigue, generalized weakness, weight loss, persistent cough, chest pain, dyspnea common early symptoms; one third of patients are asymptomatic at time of diagnosis​

          Exam

          dyspnea, loss of weight; rarely produces clubbing (usually present when associated with hypertrophic osteoarthropathy)

          1st investigation
          • CXR:

            posteroanterior view: lesion typically appears as a smooth mass in upper half of chest

            More
          • chest CT scan:

            demonstrates relationship between thymoma and surrounding vascular structures

            More
          Other investigations
          • chest PET scan:

            reveals a hypermetabolic mass

            More

          Lipoid pneumonia

          History

          history of mineral oil (e.g., in laxatives) or vegetable oil ingestion; history of lung cancer or bronchiolitis obliterans, recent chemotherapy or radiation therapy; may be asymptomatic or present with nonspecific symptoms (cough, chest pain, dyspnea)

          Exam

          variable and nonspecific signs including fever, tachypnea, crackles

          1st investigation
          • CXR:

            alveolar infiltrates, consolidation

          Other investigations
          • chest CT:

            necrosis and pulmonary collections

            More
          • bronchoalveolar lavage:

            identifies aspirated agent

            More

          Pulmonary artery sarcoma

          History

          dyspnea, chest and/or back pain, cough, hemoptysis, weight loss, malaise, syncope, fever, rarely sudden death

          Exam

          systolic ejection murmur, cyanosis, extremity edema, jugular vein distention, hepatomegaly

          1st investigation
          • CXR:

            solid sarcomatous expansions of proximal pulmonary artery are highly suggestive, especially if there are pulmonary nodules; decreased vascularity, and cardiac enlargement

            More
          Other investigations
          • chest CT:

            nonspecific uniform mass consistent with organized thrombi

            More
          • intravascular ultrasonography:

            unique echogenic mass with irregular surface, string-shaped projection, mosaic pattern containing flecked echolucent and increased echogenic areas

            More
          • PET scan chest:

            shows heterogeneous soft-tissue density from areas of necrosis, hemorrhage, and ossification

            More

          Ulcerative esophagitis

          History

          burning retrosternal pain, nausea, vomiting

          Exam

          minimal findings, occasional epigastric tenderness

          1st investigation
          • barium studies:

            ulceration seen in barium shadow

          • endoscopy:

            direct visualization of ulceration

          Other investigations
          • biopsy:

            epithelial hyperplasia, infiltration by inflammatory cells, and sometimes focal necrosis possible in early lesions; presence of intraepithelial eosinophils common

            More

          Achalasia

          History

          dysphagia, regurgitation, chest pain, heartburn

          Exam

          weight loss

          1st investigation
          • barium studies:

            dilated esophagus, contrast passes slowly into stomach, distal esophagus narrowed and resembles a bird's beak

          • esophageal manometry:

            incomplete relaxation of lower esophageal sphincter in response to swallowing; high resting pressure of lower esophageal sphincter; absent esophageal peristalsis

          Other investigations

            Celiac disease

            History

            diarrhea, flatulence, steatorrhea, weight loss, weakness, fatigue; abdominal pain not common in uncomplicated cases; extraintestinal symptoms may be present (dermatitis herpetiformis, history of bone pain, or previous fracture suggesting osteoporosis)

            Exam

            protuberant abdomen (may be tympanic due to bowel distention); pallor, easy bruising, aphthous stomatitis

            1st investigation
            • antitissue transglutaminase antibodies:

              elevated titer

              More
            • small-bowel biopsy:

              presence of intraepithelial lymphocytes, villous atrophy, and crypt hyperplasia

              More
            Other investigations
            • CBC:

              microcytic anemia

              More
            • iron studies:

              iron deficiency

            • prothrombin time:

              prolonged

              More

            Tropical sprue

            History

            prolonged exposure to an endemic area; diarrhea, fever, fatigue, malaise, anorexia

            Exam

            glossitis, stomatitis, weight loss, dehydration, pallor, pedal edema

            1st investigation
            • CBC:

              macrocytic anemia

              More
            • serum folate:

              low

              More
            • serum B12:

              low

              More
            • quantitative fecal fat assay:

              14-21 g of fecal fat loss per day

              More
            • D-xylose absorption test:

              low serum and urine levels of D-xylose following a 25 g oral dose of D-xylose

              More
            Other investigations

              Leiomyoma of the esophagus

              History

              young patients, dysphagia, retrosternal discomfort, chest pain, regurgitation; bleeding is rare

              Exam

              weight loss and wasting in severe cases

              1st investigation
              • barium studies:

                smooth concave mass underlying intact mucosa, encroaching lumen of esophagus

              Other investigations
              • esophageal ultrasonography:

                mass located in muscularis

              • esophagoscopy:

                uniform smooth mass growing out of muscularis into lumen

                More
              • brush cytology:

                interlacing smooth muscle cells well demarcated by adjacent tissue or a capsule

                More

              Familial clubbing

              History

              positive family history; absence of symptoms suggesting an underlying organic condition

              Exam

              absence of signs suggesting an underlying organic condition

              1st investigation
              • none:

                diagnosis is clinical

              Other investigations

                Pachydermoperiostosis (primary hypertrophic osteoarthropathy)

                History

                onset often at puberty; excessive sweating, acne, arthralgia, coarsening of facial features, enlargement of fingers and toes, cutaneous thickening, and furrowing of scalp

                Exam

                combination of pachydermia (elephant-like skin), periostosis (swelling around the joints, especially wrists and knees), and clubbing is typical; possibly also seborrhea, acne, hyperhidrosis, cutis verticis gyrata (thickened skin of the scalp manifesting as folds and furrows), hemarthrosis or hydrarthrosis​

                1st investigation
                • CXR:

                  usually normal

                  More
                Other investigations
                • plain film radiographs:

                  x-ray of the hands shows acro-osteolysis of the terminal phalanges; films of other joints show periosteal reactions

                  More

                Secondary hypertrophic osteoarthropathy

                History

                painful joints with limited range of movement; pulmonary, hepatic, or endocrine symptoms​

                Exam

                enlarged extremities due to periarticular and osseous proliferation, tender and swollen joints; signs suggesting underlying cause (lung cancer, abscess, bronchiectasis, emphysema, Hodgkin lymphoma, metastatic disease, cystic fibrosis, cirrhosis, inflammatory bowel disease, biliary atresia)

                1st investigation
                • plain film radiographs:

                  x-ray of hands shows acro-osteolysis of terminal phalanges; films of other joints show periosteal reactions

                  More
                • CXR:

                  may reveal associated pulmonary signs

                  More
                Other investigations
                • chest CT scan:

                  delineates the nature of pulmonary involvement (if present)

                  More

                Palmoplantar keratoderma

                History

                thickening of palms and soles; may be hereditary but more commonly acquired

                Exam

                hyperkeratosis

                1st investigation
                • none:

                  diagnosis is clinical

                Other investigations

                  Pregnancy

                  History

                  amenorrhea, nausea, vomiting, weight gain

                  Exam

                  breast enlargement, abdominal distention, palpation of abdominal or uterine mass

                  1st investigation
                  • urine beta-hCG:

                    positive

                  Other investigations
                  • pelvic ultrasound:

                    visualization of fetal parts

                  Pseudoclubbing

                  History

                  asymptomatic

                  Exam

                  Lovibond angle between 160° and 180°; clubbing may be localized to a single digit; subungual tumor, cyst, or osteoid osteoma may be present; if clubbing is generalized acro-osteolysis (loss of terminal tufts of digits) may be present

                  1st investigation
                  • none:

                    diagnosis is clinical

                  Other investigations

                    Myelofibrosis

                    History

                    may be a history of exposure to radiation or industrial chemicals; nonspecific symptoms are common (e.g., weight loss, low-grade fever and night sweats, fatigue, anorexia, pruritus); gastrointestinal bleeding, hemoptysis, hematuria, ascites, and pericardial effusion may be present

                    Exam

                    splenomegaly with or without hepatomegaly, progressive dyspnea, cutaneous petechiae

                    1st investigation
                    • CBC with differential:

                      anemia

                    • peripheral blood smear:

                      teardrop-shaped red blood cells (RBCs), presence of metamyelocytes, myelocytes, promyelocytes, myeloblasts, and nucleated RBCs in the circulation

                    • bone marrow aspiration:

                      may be “dry”

                    • bone marrow biopsy:

                      fibrosis

                    Other investigations
                    • JAK2 V617F mutation:

                      positive in >50% of patients

                      More

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