Clinical Case Studies: Diagnosis and Laboratory Interpretation in Internal Medicine

Posted on Jan 22, 2026 in Medicine & Health

Case 1: Drug-Induced Hemolytic Anemia

A 43-year-old patient complains of back pain, darkened urine, general weakness, and dizziness that occurred after treating a cold with aspirin and ampicillin. Objectively, the patient is pale with subicteric sclera. Heart Rate (HR) is 98 bpm. The liver is palpable +2 cm, and the spleen is palpable +3 cm (hepatosplenomegaly).

Complete Blood Count (CBC) and Biochemical Analysis

  • RBCs: 2.6 × 1012/l
  • Hb: 60 g/l
  • Color Index: 0.9 (N: 0.85–1)
  • WBCs: 9.4 × 109/l
  • Basophils: 0.5%
  • Eosinophils: 3%
  • Stab Neutrophils: 6%
  • Segmented Neutrophils: 58%
  • Lymphocytes: 25%
  • Monocytes: 7%
  • ESR: 38 mm/hour
  • Reticulocytes: 24% (N: 1%)
  • Total Bilirubin: 38 mmol/l (N: 17.1–20.5 mmol/l)

Task

  1. Give a clinical and laboratory interpretation of the results. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Clinical and Laboratory Interpretation

  • The patient presents with symptoms of back pain, darkened urine, general weakness, and dizziness after taking aspirin and ampicillin.
  • Objectively, the patient is pale with subicteric sclera (indicative of *jaundice*), and there is *hepatosplenomegaly*.
  • CBC shows:
    • Low red blood cell count (RBCs) and low hemoglobin (Hb), indicating anemia.
    • Elevated white blood cell count (WBCs) with a shift to the left (increased immature neutrophils like stab neutrophils), suggestive of an inflammatory or infectious process.
    • Elevated erythrocyte sedimentation rate (ESR), indicating inflammation.
    • Markedly elevated reticulocytes (24%), indicating a strong compensatory response to anemia (suggesting hemolysis).
  • Biochemical analysis shows:
    • Elevated total bilirubin level, indicating hyperbilirubinemia.
  • The clinical picture (jaundice, darkened urine, anemia) combined with laboratory findings (elevated reticulocytes, hyperbilirubinemia) strongly suggests hemolytic anemia. The temporal relationship with aspirin and ampicillin suggests a drug-induced etiology.

2. Clinical Diagnosis

  • Main Diagnosis: Drug-Induced Hemolytic Anemia (likely secondary to aspirin or ampicillin).
  • Complications: Worsening anemia, jaundice, liver dysfunction, and potential renal complications due to hemolysis-related changes.
  • Related Diseases (Differential Diagnoses): Autoimmune hemolytic anemia, viral hepatitis, or other liver pathologies.

3. Further Diagnostic Evaluation

Yes, the patient should undergo a more extensive diagnostic evaluation to confirm the diagnosis and assess the extent of organ involvement. This may include:

  • Coombs test: To differentiate between autoimmune and drug-induced hemolysis.
  • Liver Function Tests (LFTs): To assess liver function.
  • Urinalysis: To further assess for hemoglobinuria and other urinary changes related to hemolysis.
  • Imaging studies (e.g., ultrasound): To evaluate the size and condition of the liver and spleen.
  • Detailed medication history: To identify the specific drug trigger.

Case 2: Iron Deficiency Anemia and Menorrhagia

A 20-year-old female patient complains about weakness, profuse menstruation, periodical headache, and arrhythmia. Objectively, the patient has pale skin, soft nails, hair loss (*alopecia*), and sleepiness.

CBC and Biochemical Analysis

  • RBC: 3.4 × 1012/l
  • Hb: 70 g/l
  • Color Index: 0.70 (N: 0.85–1)
  • Platelets: 140 × 109/l
  • Anisocytosis, eosinophilia, and neutropenia are observed.
  • Total Iron-Binding Capacity (TIBC) revealed a high level of transferrin in blood (N: 50–85 μmol/l).
  • ESR: 25 mm/hour.

Task

  1. Give a clinical and laboratory assessment of the results of the examination. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Clinical and Laboratory Assessment

  • The patient presents with symptoms consistent with chronic anemia (weakness, pale skin, soft nails, hair loss, sleepiness) and a history of profuse menstruation (*menorrhagia*).
  • CBC findings show:
    • Low RBC and low Hb, indicating anemia.
    • Low Color Index (0.70), indicating hypochromic microcytic anemia.
    • Anisocytosis (variation in RBC size).
    • Eosinophilia (elevated eosinophils), suggesting possible allergic or parasitic conditions.
    • Neutropenia (decreased neutrophil count).
  • Blood biochemistry:
    • High Total Iron-Binding Capacity (TIBC) and transferrin levels, which is a classic finding in iron deficiency, as the body attempts to maximize iron absorption.
    • ESR is slightly elevated, indicating mild inflammation.
  • The pathogenic relationship is clear: chronic blood loss due to profuse menstruation leads to iron depletion, resulting in hypochromic microcytic anemia.

2. Clinical Diagnosis

  • Main Diagnosis: Iron Deficiency Anemia (IDA) secondary to Menorrhagia.
  • Complications: Fatigue, cardiac arrhythmias, increased risk of infections due to neutropenia.
  • Related Diseases (Differential Diagnoses): Thalassemia, Vitamin B12 deficiency anemia (less likely given the low color index), chronic inflammatory conditions.

3. Further Diagnostic Evaluation

Yes, the patient should undergo a more extensive diagnostic evaluation to confirm the diagnosis, assess the underlying cause of IDA, and rule out other contributing factors. This may include:

  • Iron studies: To determine serum iron, ferritin, and iron saturation.
  • Peripheral blood smear: To further evaluate red blood cell morphology.
  • Stool examination for occult blood: To rule out gastrointestinal bleeding as a source of iron loss.
  • Thyroid function tests: To evaluate thyroid function, as disorders can contribute to menstrual irregularities and hair loss.
  • Gynecological evaluation: To assess the menstrual abnormalities.
  • Allergy testing: If allergic conditions are suspected due to eosinophilia.

Case 3: DVT and Positive Lupus Anticoagulant

A 17-year-old patient suffers from an acutely started disease. He felt heaviness in the right foot one summer evening without a visible provoking factor. Inspection has shown the presence of thrombosis of the popliteal, deep femoral, and subiliac veins on the right leg.

Coagulation Screening

  • Thrombocytopenia: 116 × 109/L (N: 150–450 × 109/L)
  • Prothrombin Time (PT): 15 sec (N: 11–15 sec)
  • Fibrinogen: 4.5 g/l (N: 2.7–4.0 g/l)
  • Antithrombin III (AT III): 100%
  • Protein C: 95%
  • Protein S: 110%
  • Activated Partial Thromboplastin Time (APTT): 45.9 sec (N: 30–45 sec)
  • Activity of Factor IX: 68%
  • Activity of Factor XI: 80%
  • Activity of Factor XII: 96%
  • Activity of Factor VIII: 120%
  • Screening test on the *Lupus Anticoagulant* is positive.

Task

  1. Give a clinical and laboratory assessment of the results of the examination. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Clinical and Laboratory Assessment

  • The patient presents with acute symptoms leading to the diagnosis of extensive Deep Vein Thrombosis (DVT) in the right leg.
  • Coagulative screening reveals:
    • Mild thrombocytopenia.
    • Elevated fibrinogen levels, indicating an acute phase reaction or increased clotting potential.
    • Slightly prolonged APTT (45.9 sec).
    • Elevated Factor VIII activity (120%).
    • A positive screening test for Lupus Anticoagulant (LA). LA is an antiphospholipid antibody that paradoxically causes clotting *in vivo* despite prolonging clotting times *in vitro* (like APTT).
  • The pathogenic relationship is that the presence of the Lupus Anticoagulant, an acquired thrombophilia, predisposes the patient to venous thrombosis, explaining the DVT in a young patient without typical risk factors.

2. Clinical Diagnosis

  • Main Diagnosis: Deep Vein Thrombosis (DVT) of the right leg.
  • Complications: Pulmonary embolism, chronic venous insufficiency, post-thrombotic syndrome.
  • Related Diseases (Differential Diagnoses): Antiphospholipid Syndrome (APS), inherited thrombophilia (e.g., Factor V Leiden mutation), malignancy.

3. Further Diagnostic Evaluation

Yes, the patient requires a more extensive diagnostic evaluation to confirm the underlying cause of the hypercoagulable state and rule out other contributing factors. This may include:

  • Further testing for antiphospholipid antibodies: To confirm Antiphospholipid Syndrome (APS) (e.g., anti-cardiolipin antibodies, anti-beta2 glycoprotein I antibodies).
  • Genetic testing: For inherited thrombophilia (e.g., Factor V Leiden mutation, prothrombin gene mutation).
  • Imaging studies: Such as Doppler ultrasound or CT angiography to assess the extent of thrombosis and rule out pulmonary embolism.
  • Consultation with a hematologist: For specialized management of thrombosis and hypercoagulable states.

Case 4: Chronic Liver Disease and Hepatic Encephalopathy

A 39-year-old woman working as a barmaid was delivered to a hospital after vomiting blood. Endoscopy showed the presence of varicose lesions of the esophagus. It was determined that the level of Gamma-GT was 245 IU/L. Varicose veins were treated with sclerotherapy, bleeding was stopped, and the patient was asked to abstain from alcohol. However, a year later she was hospitalized with jaundice, drowsiness, and clinical signs of chronic liver disease.

Biochemical Blood Analysis

  • Albumin: 25 g/l (N: 40–55 g/l)
  • Bilirubin Total: 260 mmol/l (N: 17.1–20.5 mmol/l)
  • Alkaline Phosphatase (ALP): 315 IU/L (N: 44–147 IU/L)
  • AST: 134 IU/l (N: 8–33 IU/l)
  • GGTP (GGT): 360 IU/l (N: 5–40 IU/l)
  • Urea: 3.1 mmol/l (N: 3.1–8.8 mmol/l)
  • Vitamin B12: 1200 ng/ml (N: 200–1100 ng/ml)

Task

  1. Give a clinical and laboratory interpretation of the results. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Clinical and Laboratory Interpretation

  • The patient has a history of portal hypertension (esophageal varices) and high GGT, strongly suggesting chronic alcohol-related liver injury.
  • The current presentation (jaundice, drowsiness) indicates severe liver decompensation.
  • Biochemical analysis reveals:
    • Low albumin: Indicating impaired hepatic synthetic function (cirrhosis).
    • Markedly elevated total bilirubin: Indicating severe impairment of bilirubin metabolism (jaundice).
    • Elevated ALP, AST, and GGTP: Indicating hepatocellular damage and cholestasis. The high GGTP is highly suggestive of alcohol etiology.
    • Normal urea: Although low-normal, this is often seen in severe liver failure due to impaired urea synthesis.
    • Elevated Vitamin B12: Often seen in chronic liver disease due to impaired clearance or release from damaged hepatocytes.
  • The pathogenic relationship is that chronic alcohol abuse led to liver cirrhosis, resulting in portal hypertension (varices) and subsequent decompensation (jaundice, hepatic encephalopathy, and synthetic failure).

2. Clinical Diagnosis

  • Main Diagnosis: Chronic Liver Disease (Cirrhosis), likely Alcohol-Related, with Decompensation.
  • Complications: Hepatic encephalopathy (drowsiness), severe jaundice, hypoalbuminemia, portal hypertension, and history of variceal bleeding.
  • Related Diseases (Differential Diagnoses): Viral hepatitis (B or C), autoimmune hepatitis, non-alcoholic fatty liver disease (NAFLD).

3. Further Diagnostic Evaluation

Yes, the patient should undergo a more extensive diagnostic evaluation to confirm the underlying cause and assess severity. This may include:

  • Liver imaging studies: Ultrasound, CT scan, or MRI to evaluate liver structure, assess for cirrhosis, and detect focal lesions (e.g., hepatocellular carcinoma).
  • Liver biopsy: To determine the extent of fibrosis or cirrhosis.
  • Serological tests: For viral hepatitis markers (HBsAg, anti-HCV) and autoimmune markers.
  • Coagulation profile: To assess synthetic function (Prothrombin Time/INR).
  • Assessment of alcohol consumption history: And referral to addiction services.

Case 5: Chronic Kidney Disease with Uremia and Anemia

A 61-year-old man complains of weight loss, weakness, and apathy over the last months. All this time he was suffering from nocturia and impotence. Blood pressure was 180/110 mmHg.

Laboratory Examination

  • Hemoglobin: 91 g/l
  • Erythrocytes: 4.4 × 1012/l
  • Leukocytes: 7.5 × 109/l
  • Platelets: 220 × 109/l
  • ESR: 35 mm/hr

Urinalysis

  • Protein: 1.5 g/l (N: 0–0.2 g/l)
  • Urates: ++
  • Oxalates: +

Biochemical Blood Analysis

  • Sodium: 130 mmol/l (N: 135–145 mmol/l)
  • Potassium: 5.2 mmol/l (N: 3.6–5.2 mmol/l)
  • Bicarbonate: 16 mmol/l (N: 22–29 mmol/l)
  • Urea: 43.0 mmol/l (N: 3.1–8.8 mmol/l)
  • Creatinine: 640 μmol/l (N: 41–111 μmol/l)
  • Glucose: 6.4 mmol/l (N: 4–5.5 mmol/l)
  • Calcium: 1.92 mmol/l (N: 2.0–2.6 mmol/l)
  • Phosphate: 2.42 mmol/l (N: 0.8–1.45 mmol/l)
  • Alkaline Phosphatase (ALP): 205 IU/l (N: 44–147 IU/l)

Task

  1. Interpret results for clinical and laboratory specimens. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Interpretation of Results

  • The patient presents with long-standing symptoms (nocturia, impotence, weakness) and severe hypertension (180/110 mmHg).
  • Renal Function: Markedly elevated urea and creatinine indicate severe renal impairment (uremia).
  • Electrolytes and Acid-Base: Hyponatremia, high-normal potassium (approaching hyperkalemia), and low bicarbonate indicate Metabolic Acidosis, typical of advanced kidney failure.
  • Hematology: Anemia (Hb 91 g/l) is common in CKD due to decreased erythropoietin production.
  • Urinalysis: Significant proteinuria (1.5 g/l) confirms kidney damage.
  • Bone Metabolism: Hypocalcemia and hyperphosphatemia, along with elevated ALP, suggest renal osteodystrophy (secondary hyperparathyroidism).
  • The pathogenic relationship is that chronic kidney damage (likely hypertensive or diabetic nephropathy) has led to a severe reduction in Glomerular Filtration Rate (GFR), causing uremia, hypertension, anemia, and metabolic bone disease.

2. Clinical Diagnosis

  • Main Diagnosis: Chronic Kidney Disease (CKD), Stage 4 or 5 (End-Stage Renal Disease likely), etiology pending.
  • Complications: Uremia, Severe Hypertension, Anemia of Chronic Disease, Metabolic Acidosis, Secondary Hyperparathyroidism/Renal Osteodystrophy.
  • Related Diseases (Differential Diagnoses): Hypertensive nephropathy, Diabetic nephropathy, Glomerulonephritis.

3. Further Diagnostic Evaluation

Yes, the patient requires extensive evaluation to determine the underlying cause and stage of CKD. Further investigations may include:

  • Renal ultrasound or CT scan: To evaluate kidney size (small kidneys suggest chronicity) and rule out structural abnormalities.
  • Urine albumin-to-creatinine ratio (ACR): To quantify proteinuria.
  • HbA1c test: To evaluate for underlying Diabetes Mellitus.
  • Parathyroid hormone (PTH) levels: To confirm secondary hyperparathyroidism.
  • Referral to a nephrologist: For management and preparation for renal replacement therapy (dialysis or transplant).

Case 6: Hepatobiliary Dysfunction and Dyslipidemia

A 35-year-old female patient, who uses long-term hormonal contraceptives, suffers from gastrointestinal (GIT) complaints. She has rapidly progressing caries of the teeth of the lower jaw. She complained that often after eating there are pains right below the ribs, especially after eating fatty foods, along with belching and abdominal rumblings. Objectively, mouth ulcers (*aphthae*) are present on the mucous membrane of the oral cavity, a yellow plaque is noted on the root of the tongue, and there is some dryness of the mucous membranes.

Biochemical Blood Analysis

  • Albumin: 55 g/l (N: 40–55 g/l)
  • Total Bilirubin: 60 mmol/l (N: 17.1–20.5 mmol/l)
  • Alkaline Phosphatase (ALP): 175 IU/l (N: 44–147 IU/l)
  • AST: 38 IU/l (N: 8–33 IU/l)
  • GGT: 100 IU/l (N: 5–40 IU/l)
  • Urea: 5.8 mmol/l (N: 3.1–8.8 mmol/l)
  • Total Cholesterol: 7.3 mmol/l (N: 2.85–5.7 mmol/l)

Task

  1. Give a clinical and laboratory assessment of the results of the examination. Determine the pathogenic relationship between the analysis data.
  2. Formulate the clinical diagnosis (main, complications, and related diseases).
  3. Does the patient need to undergo a more extensive diagnostic evaluation?

Answer

1. Clinical and Laboratory Assessment

  • The patient presents with symptoms suggestive of biliary colic or gallbladder disease (pain after fatty foods, belching).
  • Laboratory findings show:
    • Elevated total bilirubin, ALP, and GGT, indicating cholestasis or hepatobiliary dysfunction.
    • Mildly elevated AST, suggesting minor hepatocellular injury.
    • Significantly elevated total cholesterol, indicating dyslipidemia.
  • The pathogenic relationship is likely related to the long-term use of hormonal contraceptives, which can increase the risk of cholestasis, gallstone formation, and dyslipidemia. The oral symptoms (caries, aphthae) may reflect underlying nutritional deficiencies or systemic inflammation related to chronic GIT issues.

2. Clinical Diagnosis

  • Main Diagnosis: Hepatobiliary Dysfunction (Cholestasis) and Dyslipidemia, likely secondary to hormonal contraceptive use.
  • Complications: Gallbladder disease (cholelithiasis/cholecystitis), potential progression of liver dysfunction, increased cardiovascular risk due to dyslipidemia.
  • Related Diseases (Differential Diagnoses): Non-alcoholic fatty liver disease (NAFLD), primary biliary cholangitis, gastroesophageal reflux disease (GERD).

3. Extensive Diagnostic Evaluation

Yes, the patient should undergo a more extensive diagnostic evaluation to characterize the hepatobiliary dysfunction and its potential complications. This may include:

  • Abdominal ultrasound: To assess the liver and gallbladder structure, specifically looking for gallstones or bile duct dilation.
  • Liver function tests: Including bilirubin fractions (direct/indirect) and ALT.
  • Lipid profile: To fully assess cardiovascular risk (LDL, HDL, triglycerides).
  • Gynecological consultation: To discuss alternative contraceptive methods.
  • Dental examination: To address the rapidly progressing caries and oral health concerns.