Differentials

Common

Heart failure with reduced ejection fraction (HFrEF)

History

dyspnea, orthopnea, and paroxysmal nocturnal dyspnea, angina

Exam

bilateral edema, S3 gallop, rales, cool extremities, hepatomegaly, ascites, elevated jugular venous pressure

1st investigation
  • ECG:

    Q waves, left ventricular hypertrophy, bundle branch block, atrial fibrillation, or left axis deviation

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  • CXR:

    cardiomegaly or pulmonary edema

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Other investigations
  • B-type natriuretic peptide (BNP) or N-terminal pro-BNP (NT-proBNP):

    elevated

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  • cardiac troponins:

    normal or elevated

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  • echocardiography:

    low ejection fraction (<40%); focal abnormalities of wall motion

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Heart failure with preserved ejection fraction (HFpEF)

History

more likely in patients who are female, of advanced age, and possibly those with history of hypertension; dyspnea, orthopnea, and paroxysmal nocturnal dyspnea

Exam

bilateral edema; no examination feature clearly distinguishes systolic from diastolic heart failure; S4, rales, hepatomegaly, or ascites may be found; elevated jugular venous pressure

1st investigation
  • ECG:

    left ventricular hypertrophy, bundle branch block, left axis deviation

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  • CXR:

    can demonstrate cardiomegaly or pulmonary edema, which would support the possibility of heart failure

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Other investigations
  • echocardiography:

    HFpEF, hypertrophy

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  • BNP or NT-proBNP:

    elevated

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Cor pulmonale

History

history of COPD, pulmonary emboli, or sleep apnea may suggest pulmonary hypertension resulting in cor pulmonale

Exam

bilateral edema; abnormal lung examination with wheezing or rales; ascites and hepatomegaly; elevated jugular venous pressure

1st investigation
  • echocardiography:

    elevated pulmonary arterial pressure

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Other investigations
  • spirometry:

    reduced forced expiratory volume in one second (FEV1) with a reduced absolute FEV1/forced vital capacity (FVC) ratio suggests an obstructive pattern; reduced FEV1 with a normal or increased absolute FEV1/FVC ratio suggests a restrictive pattern

  • CT scan of chest:

    hyperexpansion and bulla of emphysema or segmental filling defects of pulmonary emboli

  • V/Q scan:

    segmental filling defects of pulmonary emboli

  • polysomnography:

    hypopnea/apnea episodes

  • right heart catheterization:

    elevated right heart pressure

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Sleep apnea

History

snoring, respiratory pauses during sleep; daytime somnolence

Exam

bilateral edema; obesity, large tonsils, short neck with large circumference

1st investigation
  • echocardiography:

    pulmonary hypertension

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Other investigations
  • polysomnography:

    hypopnea/apnea episodes

Deep vein thrombosis

History

acute/subacute calf pain and unilateral edema; pain may be localized over the deep venous system; risk factors include immobility, malignancy, personal, or family history of prior thromboembolic disease, surgery, pregnancy, or hormonal therapy; the Wells clinical prediction rule​ predicts pretest probability​​

Exam

unilateral edema; asymmetric tenderness, warmth, erythema, and palpable cords behind the leg; dilated superficial veins over the foot and leg; normal jugular venous pressure

1st investigation
  • D-dimer:

    normal results have high negative predictive value in patients with low clinical pretest probability. Elevated levels have 98% sensitivity but low specificity for thrombus

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  • duplex ultrasound with compression:

    positive when thrombus is found

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Other investigations
  • venography:

    positive when thrombus is found

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Chronic venous insufficiency

History

chronic swelling, aching, heavy sensation of the legs, worse after standing; risk factors include older age, female sex, obesity, pregnancy, family history of varicose veins, prior leg injury, or history of venous thrombosis

Exam

bilateral or unilateral leg edema; dark reddish-brown skin hyperpigmentation over the shins or skin ulcerations around malleoli; varicose veins; eczematous changes (venous dermatitis); lipodermatosclerosis creating inverted bottle-like contour; white scars/atrophic blanche; normal jugular venous pressure

1st investigation
  • none:

    no initial test, diagnosis is usually clinical

Other investigations
  • duplex ultrasound:

    may show location of venous incompetence and degree of venous reflux

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Nephrotic syndrome

History

frothing of urine from increased protein content; change in urine frequency or color may be seen

Exam

bilateral and generalized edema from hypoproteinemia; edema may be seen in the periorbital region as well as in the extremities; normal jugular venous pressure

1st investigation
  • serum albumin:

    albumin level of <2 g/dL is usually required to cause peripheral edema

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  • serum creatinine:

    elevated creatinine suggests renal dysfunction

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  • urinalysis:

    high-grade proteinuria (4+)

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Other investigations
  • urine microscopy:

    fat droplets inside kidney cells shed into the urine (oval fat bodies), which appear like a cross under polarized light (Maltese cross)

  • spot urine protein:

    protein-creatinine ratio >0.3 g protein per 1 mmol creatinine

  • 24-hour urine collection:

    >3.5 g/dL (proteinuria)

Cirrhosis

History

risk factors for viral hepatitis, excess alcohol consumption, Wilson disease, hemochromatosis, primary sclerosing cholangitis, primary biliary cirrhosis, autoimmune hepatitis, metabolic dysfunction-associated steatohepatitis (formerly known as nonalcoholic steatohepatitis), alpha-1-antitrypsin deficiency; some cases are cryptogenic; may have constitutional symptoms e.g. fatigue, weakness and weight loss

Exam

bilateral edema; liver shrunken and nodular; splenomegaly and/or ascites; jaundice and scleral icterus; engorged periumbilical veins (caput medusae); spider nevi; normal jugular venous pressure

1st investigation
  • liver function tests (including coagulation studies):

    low albumin, prolonged prothrombin time, and increased bilirubin suggests liver synthetic and metabolic dysfunction

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Other investigations
  • liver ultrasonography with duplex:

    small scarred liver with elevated portal pressure and splenomegaly

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Pregnancy

History

pregnancy is commonly associated with lower-extremity edema starting in the second trimester, due to increased total body fluid as a result of hormonal changes and mechanical pressure on the inferior vena cava from the gravid uterus

Exam

bilateral edema, usually mild; pregnancy should be clinically evident by the time it begins to cause peripheral edema

1st investigation
  • human chorionic gonadotropin:

    positive

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Other investigations

    Medication-induced edema

    History

    onset of edema coincides with initiation of medication; use of calcium-channel blocking agents (especially dihydropyridines), agents that cause vasodilation (minoxidil, diazoxide), or agents that block renal prostaglandin synthesis (nonsteroidal anti-inflammatory drugs) causes renal fluid and salt retention and contributes to peripheral edema; other medication classes associated with peripheral edema include antidepressants, estrogens, corticosteroids, intrathecal opioids, gabapentin or pregabalin, mitogen-activated protein kinase enzyme inhibitors, hypoglycemic agents in the thiazolidinedione class​​ and levodopa.

    Exam

    bilateral edema; normal jugular venous pressure

    1st investigation
    • none:

      no specific tests; clinical suspicion is driven by new medication use prior to onset of edema and supported by improvement in edema with medication withdrawal

    Other investigations

      Premenstrual edema

      History

      onset of edema is related to the hormone fluctuations that occur during the normal menstrual cycle; appears in a cyclic pattern, most often in the luteal phase (the 5-7 day window prior to menses); may be a symptom experienced as a part of premenstrual syndrome, and therefore may be associated with other symptoms such as sadness, irritability, fatigue, or breast tenderness or swelling; secondary to hormone normalization

      Exam

      may reveal a cyclical pattern of weight gain and lower extremity edema during the luteal phase (the 5-7 day window prior to menses)

      1st investigation
      • none:

        no initial test; diagnosis is usually clinical

      Other investigations

        Uncommon

        Pericardial effusion

        History

        substernal chest pain, dyspnea, and dizziness; history of risk factors for pericardial effusion (connective tissue disease, chest trauma, myocardial infarction, cardiac surgery, uremia, tuberculosis, or malignancy)

        Exam

        bilateral edema; pulsus paradoxus; severe cases may have hypotension; loss of jugular atrial Y descent; muffled heart sounds; potential pericardial rub; elevated jugular venous pressure

        1st investigation
        • ECG:

          diffuse concave ST elevation, PR depression, and later T-wave flattening and inversions; low voltages

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        • CXR:

          enlarged, globular cardiac silhouette

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        • echocardiography:

          positive for pericardial effusion

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        Other investigations

          Constrictive pericarditis

          History

          risk factors (radiation exposure, connective tissue disease, chest trauma, myocardial infarction, cardiac surgery, uremia, tuberculosis, or malignancy); history of pericarditis; gradual development of symptoms of cardiac congestion

          Exam

          bilateral edema, ascites, hepatomegaly; pericardial knock; large Y descent of jugular pressure, Kussmaul sign (rise in jugular venous pressure on inspiration); elevated jugular venous pressure

          1st investigation
          • CXR:

            pericardial calcification may be seen

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          • ECG:

            nonspecific; QRS voltage is usually low; T waves nonspecifically abnormal; atrial fibrillation

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          • echocardiography:

            increased pericardial thickness and abnormal ventricular filling

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          Other investigations

            Restrictive cardiomyopathy

            History

            history of infiltrative disease such as amyloidosis or hemochromatosis

            Exam

            bilateral edema, hepatomegaly, ascites, Kussmaul sign (rise in jugular venous pressure on inspiration), S3, mitral regurgitation murmur, elevated jugular venous pressure

            1st investigation
            • ECG:

              typically nonspecifically abnormal, with ST-segment and T-wave abnormalities; sometimes low voltage

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            • echocardiography:

              restricted filling, normal or mildly reduced systolic function

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            Other investigations

              Tricuspid regurgitation

              History

              history of congenital valve defects, rheumatic heart disease, or endocarditis

              Exam

              bilateral edema; holosystolic murmur at left lower sternal border; prominent ventricular impulse in the left parasternal region; hepatomegaly; elevated jugular venous pressure

              1st investigation
              • echocardiography:

                tricuspid valvular regurgitation

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              Other investigations

                Nonthrombotic venous outflow obstruction

                History

                unilateral leg pain and swelling (affects the left leg only in May-Thurner syndrome [compression of the left common iliac vein by the overlying right common iliac artery]); increases risk for deep vein thrombosis in the affected vein; may be history of prior thrombus

                Exam

                unilateral leg edema (affecting left leg only in May-Thurner syndrome); potentially cutaneous signs of chronic venous insufficiency; normal jugular venous pressure

                1st investigation
                • duplex ultrasound with compression:

                  positive for compression

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                • CT venography (CTV) or MR venography (MRV):

                  positive for compression

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                Other investigations
                • venography:

                  positive when venous stenosis is observed

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                Hepatic venous outflow obstruction (includes Budd-Chiari syndrome and hepatic veno-occlusive disease)

                History

                right upper quadrant abdominal pain; thrombophilia and/or hematologic disorders such as myeloproliferative disorders or paroxysmal nocturnal hemoglobinuria; prior stem cell transplant, liver irradiation, or chemotherapy increases risk of hepatic veno-occlusive disease

                Exam

                bilateral edema; tender hepatomegaly, jaundice, ascites

                1st investigation
                • liver function panel:

                  elevated bilirubin >2 mg/dL, elevated transaminases and elevated alkaline phosphatase

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                • duplex ultrasound of the liver:

                  demonstrates obstruction of blood flow through the liver

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                • CT or MRI:

                  may show occlusion of hepatic veins, inferior vena cava, or both

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                Other investigations

                  Renal failure

                  History

                  decreased urinary output; hematuria

                  Exam

                  bilateral edema; may have associated ascites or pulmonary rales; hypertension may be seen; elevated jugular venous pressure from total body fluid overload

                  1st investigation
                  • serum creatinine:

                    increased creatinine indicates renal dysfunction

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                  • blood urea nitrogen (BUN):

                    elevated BUN indicates renal dysfunction

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                  • urine output:

                    decreased urine output

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                  • urinalysis with microscopy:

                    proteinuria, red blood cells (RBCs), hyaline casts, or eosinophils

                    More
                  Other investigations

                    Protein-losing enteropathy

                    History

                    severe diarrhea suggests protein-losing enteropathy

                    Exam

                    bilateral edema from hypoproteinemia is generalized and may be seen in the periorbital region as well as in the extremities; normal jugular venous pressure

                    1st investigation
                    • serum albumin:

                      albumin level <2 g/dL is usually required to cause peripheral edema

                      More
                    Other investigations

                      Angioedema

                      History

                      family history of angioedema or recent exposure to a medication such as an ACE inhibitor may be elicited

                      Exam

                      edema is diffuse in anaphylaxis but may be localized in angioedema or focal infection;​​ normal jugular venous pressure

                      1st investigation
                      • none:

                        there are no specific tests, suspicion is usually driven by clinical features

                      Other investigations
                      • C4 level:

                        decreased in hereditary and acquired angioedema

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                      • C1-esterase inhibitor level:

                        decreased in hereditary angioedema

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                      • C1-esterase inhibitor function:

                        decreased in hereditary angioedema

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                      • C1q level:

                        normal in hereditary angioedema; decreased in acquired angioedema

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                      Sepsis

                      History

                      symptoms of localized infection, nonspecific symptoms include fever or shivering, dizziness, nausea and vomiting, muscle pain, feeling confused or disoriented; may be history of risk factors e.g., immunosuppression, pregnancy or postpartum period, frailty, recent surgery or invasive procedures, intravenous drug use, or breach of skin integrity

                      Exam

                      bilateral edema; diffuse, develops after fluid resuscitation; tachycardia, tachypnea, hypotension, fever (>100.4ºF [>38ºC]) or hypothermia (<96.8ºF [<36ºC]), prolonged capillary refill, mottled or ashen skin, cyanosis, low oxygen saturation, newly altered mental state, reduced urine output

                      1st investigation
                      • blood culture:

                        may be positive for organism

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                      • serum lactate:

                        may be elevated; levels >18 mg/dL (>2 mmol/L) associated with adverse prognosis; even worse prognosis with levels ≥36 mg/dL (≥4 mmol/L)

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                      • CBC with differential:

                        WBC count >12×10⁹/L (12,000/microliter) (leukocytosis); WBC count <4×10⁹/L (4000/microliter) (leukopenia); or a normal WBC count with >10% immature forms; low platelets

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                      • C-reactive protein:

                        elevated

                      • BUN and serum electrolytes:

                        serum electrolytes may be deranged; blood urea may be elevated

                      • serum creatinine:

                        may be elevated

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                      • liver function tests:

                        may show elevated bilirubin, alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, and gamma glutamyl transpeptidase

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                      • coagulation studies:

                        may be abnormal

                      • ABG:

                        may be hypoxia, hypercapnia, elevated anion gap, metabolic acidosis

                      Other investigations
                      • ECG:

                        may show evidence of ischemia, atrial fibrillation, or other arrhythmia; may be normal

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                      • CXR:

                        may show consolidation; demonstrates position of central venous catheter and tracheal tube

                      • urine microscopy and culture:

                        may be positive for nitrites, protein or blood; elevated leukocyte count; positive culture for organism

                      • sputum culture:

                        may be positive for organism

                      • lumbar puncture:

                        may be elevated WBC count, presence of organism on microscopy and positive culture

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                      Compartment syndrome

                      History

                      trauma, fracture, or infection in the extremities

                      Exam

                      unilateral edema; pain in extremity may be severe, especially on passive stretch of the muscle; compartment tense to palpation; muscle weakness; hypoesthesia; normal jugular venous pressure; pulses and capillary refill may be normal

                      1st investigation
                      • compartment pressure testing:

                        variable; differential pressure within 20-30 mmHg of the diastolic pressure (delta pressure) is considered a strong indicator for fasciotomy

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                      Other investigations
                      • computed tomography:

                        evidence of the mechanism of the injury (e.g., fracture, bleeding)

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                      Primary lymphedema

                      History

                      can result from congenital lymphedema, lymphedema praecox, lymphedema tarda, yellow nail syndrome, or Turner syndrome; family history of similar symptoms supports diagnosis of congenital lymphedema

                      Exam

                      unilateral or bilateral edema; initially pitting; chronic edema causes fibrosis, hyperkeratosis, rough skin texture, and nonpitting edema; Stemmer sign is indicative (i.e., inability to pinch and lift a fold of skin at the base of the second toe); jugular venous pressure normal; lymphedema graded on a 3-stage scale

                      1st investigation
                      • none:

                        no initial test, diagnosis is usually clinical

                      Other investigations
                      • lymphoscintigraphy:

                        normal result shows symmetrical transport of the tracer through discrete lymph nodes; slow movement of tracer suggests hypoplasia of the lymphatic system; tracer outside of lymph routes suggests obstruction​

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                      Secondary lymphedema

                      History

                      secondary lymphedema caused by malignancy, prior radiation, surgery, or infection (e.g., filariasis); history focuses on these possibilities and eliciting systemic symptoms such as unexplained weight loss

                      Exam

                      unilateral or bilateral, initially pitting; if chronic, causes fibrosis, hyperkeratosis, rough skin texture, and nonpitting edema; unilateral lymphedema following cancer treatment may be measured as the circumference of the affected limb being >2 cm or volume >10% compared with the unaffected limb; Stemmer sign is indicative (i.e., inability to pinch and lift a fold of skin at the base of the second toe); normal jugular venous pressure

                      1st investigation
                      • none:

                        no initial test, diagnosis is usually clinical

                      Other investigations
                      • lymphoscintigraphy:

                        normal result shows symmetric transport of the tracer through discrete lymph nodes; slow movement of tracer suggests hypoplasia of the lymphatic system; tracer outside of lymph routes suggests obstruction​

                        More
                      • Giemsa stain of peripheral blood smear:

                        microfilaria of Wuchereria bancrofti or Brugia spp. present in filariasis

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                      Idiopathic

                      History

                      onset age 20 to 60 years, usually in the third or fourth decade; worsened by orthostatic position; cyclical pattern but not associated with menses; may be associated with psychological symptoms and diuretic, laxative, or bulimic behaviors

                      Exam

                      bilateral edema periodic swelling of extremities and face; abdominal bloating; normal jugular venous pressure

                      1st investigation
                      • none:

                        no routine tests, as this is a diagnosis of exclusion

                      Other investigations

                        Severe malnutrition

                        History

                        longstanding and profound decreased dietary intake

                        Exam

                        bilateral edema from hypoproteinemia is generalized and may be seen in the periorbital region as well as in the extremities; muscle wasting from malnutrition should be evident, although muscle loss induced by protein deficiency may be masked by fluid retention; normal jugular venous pressure

                        1st investigation
                        • serum albumin:

                          albumin level of <2 g/dL is usually required to cause peripheral edema

                          More
                        Other investigations

                          Hypothyroidism/myxedema

                          History

                          fatigue, cold intolerance, dry skin, constipation, weight gain, coarse hair

                          Exam

                          bilateral nonpitting edema occurs on the backs of the hands, and in periorbital and pretibial regions; normal jugular venous pressure

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

                            elevation of TSH suggests hypothyroidism

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                          Other investigations

                            Ruptured popliteal fossa cyst

                            History

                            acute, unilateral, painful calf swelling; symptoms may be clinically similar to deep vein thrombosis; gastrocnemius bursa cysts are more common in knees with prior pathology such as arthritis

                            Exam

                            unilateral edema; may have been a palpable enlargement of the gastrocnemius bursa prior to rupture; normal jugular venous pressure

                            1st investigation
                            • ultrasound:

                              hypoechoic regions superficial to the muscles of the mid calf

                            Other investigations

                              Pelvic tumor causing external pressure on pelvic veins

                              History

                              back pain, hematuria, flank pain, abdominal bloating, abnormal vaginal bleeding or discharge, or unintentional weight loss

                              Exam

                              a mass may be felt upon palpation of the abdomen

                              1st investigation
                              • ultrasound of abdomen:

                                transvaginal is most common; may reveal complex components, bilateral tumors, ascites, mass >10 cm, and mural nodules

                                More
                              • computed tomography scan of abdomen:

                                recommended as a first test in men and a second test (after transvaginal ultrasound) in women; may reveal presence of pelvic mass

                              Other investigations
                              • MRI of abdomen:

                                may reveal presence of pelvic mass

                              • PET scan:

                                may be useful once mass has been detected, to differentiate between malignant and benign pelvic mass, as well as assess for metastases

                              • cystoscopy:

                                may be used for evaluation of hematuria; may reveal lesions or mass that can be biopsied and resected during the procedure

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