What's the approach to performing a physical exam on a patient of African, Hispanic, or Middle Eastern descent to evaluate for Sickle Cell Disease (SCD)?

Physical Examination for Sickle Cell Disease (SCD)

The physical examination for SCD should focus on detecting acute complications (acute chest syndrome, splenic sequestration, stroke) and chronic organ damage, with particular attention to vital signs, spleen palpation, cardiopulmonary assessment, and neurological examination. 1

Vital Signs Assessment

• Blood pressure: Measure carefully and compare to age-specific norms, recognizing that SCD patients typically have lower baseline blood pressure than hematologically normal individuals 1
• Oxygen saturation: Evaluate noninvasively with pulse oximetry and track over time, as unexplained desaturation suggests pulmonary complications 1
• Temperature: Document to identify febrile illness requiring urgent evaluation for potential bacteremia 1
• Respiratory rate: Assess for tachypnea indicating acute chest syndrome or other pulmonary complications 1

Spleen Examination

• Palpate for splenomegaly: The presence of a palpable spleen is critical, as splenic sequestration can cause life-threatening acute anemia 1
• Educate families: Reinforce daily home spleen palpation by family members to detect acute enlargement early 1
• Monitor for absence: In HbSS disease, the spleen typically auto-infarcts by age 5-6 years; persistent splenomegaly in older children warrants investigation 1

Cardiopulmonary Assessment

• Auscultate heart sounds: Listen for murmurs, gallops, or irregular rhythms suggesting cardiac complications or pulmonary hypertension 1
• Examine for right ventricular heave: Palpate the left parasternal border for signs of right ventricular hypertrophy from pulmonary hypertension 1
• Assess jugular venous pressure: Elevated JVP suggests right heart failure from pulmonary hypertension 1
• Lung auscultation: Listen for crackles, wheezing, or decreased breath sounds indicating acute chest syndrome or chronic lung disease 1
• Evaluate for respiratory distress: Look for accessory muscle use, nasal flaring, or intercostal retractions 1

Neurological Examination

• Screen for focal deficits: Assess for hemiparesis, aphasia, facial droop, or asymmetric reflexes indicating stroke 2, 3
• Evaluate mental status: Document alertness, orientation, and cognitive function, as altered consciousness may indicate stroke or severe anemia 2
• Test cranial nerves: Perform systematic cranial nerve examination to detect subtle stroke manifestations 1
• Assess gait and coordination: Observe for ataxia or motor weakness 1

Musculoskeletal Examination

• Inspect joints: Look for swelling, warmth, or limited range of motion suggesting avascular necrosis or dactylitis 3, 4
• Examine extremities: Check for leg ulcers, particularly around the malleoli, which are chronic complications of SCD 3, 4
• Assess for bone tenderness: Palpate long bones for focal tenderness indicating bone infarction or osteomyelitis 1

Abdominal Examination

• Palpate liver: Assess for hepatomegaly from chronic hemolysis, transfusion-related iron overload, or hepatic sequestration 1
• Check for abdominal tenderness: Distinguish between vaso-occlusive pain and surgical emergencies like cholecystitis or appendicitis 1
• Assess for ascites: Percuss and palpate for fluid accumulation suggesting hepatic complications 1

Growth and Development Assessment

• Measure height and weight: Plot on growth curves and track over time, as SCD often causes growth delays 1
• Assess pubertal development: Document Tanner staging, as sexual maturation is frequently delayed in SCD 1
• Monitor school performance: Inquire about academic difficulties that may indicate silent cerebral infarcts requiring neuroimaging 1

Skin and Eye Examination

• Inspect sclera: Look for icterus from chronic hemolysis 1, 3
• Examine skin: Assess for pallor indicating severe anemia and jaundice from hemolysis 1, 4
• Check for skin breakdown: Inspect pressure points and lower extremities for ulceration 3

Critical Pitfalls to Avoid

• Do not dismiss patient-reported pain: The diagnosis of vaso-occlusive crisis is based entirely on patient self-report without requiring specific physical findings, and patients with SCD know their disease best 2
• Do not overlook subtle neurological changes: Stroke can present with syncope or altered mental status rather than obvious focal deficits 2
• Do not assume normal vital signs exclude serious complications: Acute chest syndrome can develop rapidly even with initially normal examination 1
• Do not skip spleen examination: Failure to detect splenic sequestration early can result in life-threatening anemia 1

Race/Ethnicity Considerations

• SCD predominantly affects individuals of African, Hispanic, and Middle Eastern descent, with approximately 8% of Black individuals carrying sickle cell trait 1, 4
• All individuals in these populations born in the U.S. since 1987 should have newborn screening results documented; those born before 1987 or outside the U.S. require hemoglobin electrophoresis for definitive diagnosis 5
• The physical examination approach is identical regardless of race or ethnicity once SCD is diagnosed or suspected 1