Diphtheria (Corynebacterium diphtheriae)

Overview


Plain-Language Overview

Diphtheria is a serious infection caused by the bacterium Corynebacterium diphtheriae that mainly affects the throat and upper airways. It causes a thick, gray coating called a pseudomembrane to form in the throat, which can make breathing and swallowing difficult. The infection primarily involves the respiratory system but can also affect the heart and nervous system if the toxin spreads. Symptoms often include a sore throat, fever, and swollen glands in the neck. The disease can lead to severe complications like breathing obstruction and heart damage. It is a contagious illness that spreads through respiratory droplets. Early recognition of symptoms is important because the infection can be life-threatening without treatment.

Clinical Definition

Diphtheria is an acute, toxin-mediated infection caused by toxigenic strains of Corynebacterium diphtheriae. The core pathology involves production of the diphtheria toxin, which inhibits protein synthesis in host cells leading to local tissue necrosis and formation of a characteristic pseudomembrane in the upper respiratory tract. The toxin can disseminate systemically causing myocarditis, neuropathy, and other serious complications. The disease primarily affects the respiratory mucosa but can also involve cutaneous sites. Transmission occurs via respiratory droplets or direct contact with infected lesions. Clinically, it presents with sore throat, low-grade fever, and a thick gray membrane over the tonsils or pharynx. The major clinical significance lies in its potential for airway obstruction and systemic toxin effects, which can be fatal without prompt antitoxin administration and antibiotics.

Inciting Event

  • Exposure to respiratory droplets containing toxigenic Corynebacterium diphtheriae.

  • Colonization of the nasopharynx or skin by the bacterium.

  • Inhalation of contaminated droplets from an infected individual.

Latency Period

  • Incubation period typically ranges from 2 to 5 days after exposure.

  • Symptom onset usually occurs within 1 week of bacterial colonization.

Diagnostic Delay

  • Initial symptoms mimic common viral pharyngitis, leading to misdiagnosis.

  • Lack of awareness in non-endemic areas causes delayed suspicion of diphtheria.

  • Failure to recognize the characteristic pseudomembrane on physical exam.

  • Delayed laboratory confirmation due to slow growth of Corynebacterium diphtheriae on culture.

Clinical Presentation


Signs & Symptoms

  • Sore throat and hoarseness with difficulty swallowing.

  • Fever and malaise indicating systemic infection.

  • Thick gray pseudomembrane formation in the oropharynx causing airway obstruction.

  • Neck swelling and tenderness due to lymphadenopathy.

  • Nasal discharge and possible epistaxis in nasal diphtheria.

History of Present Illness

  • Gradual onset of sore throat, low-grade fever, and malaise over several days.

  • Development of a thick, gray pseudomembrane on the tonsils, pharynx, or nasal mucosa.

  • Progressive neck swelling and bull neck appearance due to cervical lymphadenopathy and edema.

  • Possible hoarseness, dysphagia, and respiratory distress from airway obstruction.

  • Systemic symptoms such as myocarditis or neuropathy may appear in severe cases.

Past Medical History

  • History of incomplete or absent diphtheria vaccination.

  • Previous respiratory infections or recent exposure to infected individuals.

  • Underlying immunodeficiency or chronic illnesses that impair immune response.

Family History

  • No specific heritable syndromes associated with diphtheria.

  • Family members may be asymptomatic carriers or have recent history of respiratory infections.

  • Clusters of cases may occur in households with low vaccination coverage.

Physical Exam Findings

  • Presence of a thick, grayish-white pseudomembrane on the tonsils, pharynx, or nasal mucosa that bleeds if scraped.

  • Cervical lymphadenopathy with a characteristic 'bull neck' appearance due to extensive soft tissue swelling.

  • Pharyngeal erythema and edema surrounding the pseudomembrane.

  • Tachycardia and signs of systemic toxicity in severe cases.

  • Possible respiratory distress from airway obstruction caused by the pseudomembrane.

Diagnostic Workup


Diagnostic Criteria

Diagnosis of diphtheria is established by identifying the characteristic pseudomembrane in the oropharynx combined with clinical symptoms such as sore throat and fever. Confirmation requires isolation of Corynebacterium diphtheriae from a throat swab culture. Detection of the diphtheria toxin gene by PCR or demonstration of toxin production by the Elek test confirms toxigenicity. Laboratory findings may show leukocytosis and elevated inflammatory markers. Early recognition of the clinical presentation along with microbiological confirmation is essential for diagnosis.

Pathophysiology


Key Mechanisms

  • Production of diphtheria toxin, an exotoxin that inhibits protein synthesis by ADP-ribosylation of elongation factor-2 (EF-2).

  • Local tissue damage caused by toxin-mediated necrosis leading to pseudomembrane formation in the upper respiratory tract.

  • Systemic absorption of toxin causing myocarditis, neuritis, and renal toxicity.

  • Colonization of the oropharynx and upper respiratory mucosa by Corynebacterium diphtheriae.

InvolvementDetails
Organs

Larynx and pharynx are commonly involved organs where pseudomembrane formation causes airway compromise.

Heart is a critical organ affected by toxin-induced myocarditis leading to heart failure.

Peripheral nervous system involvement results in neuropathies and paralysis.

Tissues

Respiratory mucosa is the site of initial colonization and pseudomembrane formation causing airway obstruction.

Myocardial tissue can be damaged by toxin leading to myocarditis and arrhythmias.

Peripheral nerves may be affected by toxin causing demyelination and neuropathy.

Cells

Macrophages phagocytose bacteria and present antigens to initiate immune response.

T lymphocytes mediate cellular immunity and help clear infection.

Epithelial cells of the respiratory tract are the primary site of toxin-mediated damage and pseudomembrane formation.

Chemical Mediators

Diphtheria toxin inhibits protein synthesis by ADP-ribosylation of elongation factor-2, causing cell death.

Cytokines such as TNF-alpha and IL-1 are released during inflammation contributing to systemic symptoms.

Antitoxin antibodies neutralize circulating toxin and prevent further tissue injury.

Treatments


Pharmacological Treatments

  • Diphtheria antitoxin

    • Mechanism:
      • Neutralizes circulating diphtheria toxin to prevent cellular damage.

    • Side effects:
      • Serum sickness

      • Anaphylaxis

      • Fever

    • Clinical role:
      • First-line

  • Erythromycin

    • Mechanism:
      • Inhibits bacterial protein synthesis by binding to the 50S ribosomal subunit of Corynebacterium diphtheriae.

    • Side effects:
      • Gastrointestinal upset

      • Cholestatic hepatitis

      • Allergic reactions

    • Clinical role:
      • First-line

  • Penicillin G

    • Mechanism:
      • Inhibits bacterial cell wall synthesis leading to bacterial lysis.

    • Side effects:
      • Allergic reactions

      • Jarisch-Herxheimer reaction

      • Neurotoxicity with high doses

    • Clinical role:
      • First-line

Non-pharmacological Treatments

  • Airway management including possible intubation or tracheostomy to prevent airway obstruction from pseudomembrane.

  • Isolation precautions to prevent transmission via respiratory droplets.

  • Supportive care with hydration and monitoring for cardiac and neurologic complications.

Prevention


Pharmacological Prevention

  • Diphtheria toxoid vaccine as part of the DTaP or Tdap immunization series.

  • Antitoxin administration in exposed individuals to neutralize circulating toxin.

  • Antibiotic prophylaxis with erythromycin or penicillin for close contacts.

Non-pharmacological Prevention

  • Routine childhood immunization to maintain herd immunity.

  • Isolation of infected patients to prevent transmission.

  • Improved sanitation and hygiene to reduce spread of Corynebacterium diphtheriae.

Outcome & Complications


Complications

  • Airway obstruction from pseudomembrane leading to respiratory failure.

  • Myocarditis caused by diphtheria toxin leading to arrhythmias and heart failure.

  • Neuropathy including palatal paralysis and peripheral neuritis.

  • Acute renal failure secondary to toxin-mediated damage.

  • Sepsis from systemic spread of infection.

Short-term Sequelae Long-term Sequelae
  • Respiratory distress requiring intubation or tracheostomy.

  • Cardiac arrhythmias due to myocarditis.

  • Cranial nerve palsies causing dysphagia and vocal cord paralysis.

  • Chronic neuropathies with persistent muscle weakness or paralysis.

  • Cardiac conduction defects and chronic heart failure from myocardial damage.

  • Airway scarring leading to chronic respiratory issues.

Differential Diagnoses


Diphtheria (Corynebacterium diphtheriae) versus Streptococcal pharyngitis

Diphtheria (Corynebacterium diphtheriae)

Streptococcal pharyngitis

Corynebacterium diphtheriae

Streptococcus pyogenes (Group A Streptococcus)

Elek test or culture positive for toxigenic Corynebacterium diphtheriae

Positive rapid antigen detection test or throat culture for Group A Streptococcus

Potentially severe systemic toxicity due to diphtheria toxin with prolonged course

Usually self-limited with rapid symptom onset and resolution with antibiotics

Diphtheria (Corynebacterium diphtheriae) versus Infectious mononucleosis

Diphtheria (Corynebacterium diphtheriae)

Infectious mononucleosis

Exposure to respiratory droplets from infected persons

Close contact with saliva of infected individuals (kissing)

Negative heterophile antibody test; diagnosis by culture and toxin detection

Positive heterophile antibody test (Monospot) and atypical lymphocytosis

Pharyngitis with characteristic pseudomembrane and systemic toxin effects

Fever, pharyngitis, and lymphadenopathy lasting 2-4 weeks

Diphtheria (Corynebacterium diphtheriae) versus Vincent's angina (acute necrotizing ulcerative gingivitis)

Diphtheria (Corynebacterium diphtheriae)

Vincent's angina (acute necrotizing ulcerative gingivitis)

Gray pseudomembrane on tonsils and pharynx extending beyond gums

Ulcerative gingivitis with necrosis and gray pseudomembrane localized to gums

Corynebacterium diphtheriae producing diphtheria toxin

Mixed anaerobic fusiform and spirochete bacteria

Requires diphtheria antitoxin and systemic antibiotics

Responds to oral debridement and metronidazole or penicillin

Diphtheria (Corynebacterium diphtheriae) versus Herpangina (Coxsackievirus infection)

Diphtheria (Corynebacterium diphtheriae)

Herpangina (Coxsackievirus infection)

Corynebacterium diphtheriae

Enterovirus (Coxsackie A virus)

Bacterial culture positive for toxigenic Corynebacterium diphtheriae

Viral culture or PCR positive for Coxsackievirus

Thick gray pseudomembrane on tonsils and pharynx with systemic toxicity

Multiple small vesicles and ulcers on soft palate, resolving in 7-10 days

Diphtheria (Corynebacterium diphtheriae) versus Epiglottitis (Haemophilus influenzae type b)

Diphtheria (Corynebacterium diphtheriae)

Epiglottitis (Haemophilus influenzae type b)

Corynebacterium diphtheriae

Haemophilus influenzae type b

Culture positive for toxigenic Corynebacterium diphtheriae; pseudomembrane on pharynx

Blood culture positive for H. influenzae; lateral neck X-ray shows thumbprint sign

Gradual onset of sore throat with pseudomembrane and systemic toxin effects

Rapid onset of high fever, drooling, and airway obstruction

Medical Disclaimer: The content on this site is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. If you think you may be experiencing a medical emergency, call 911 or your local emergency number immediately. Always consult a licensed healthcare professional with questions about a medical condition.

Artificial Intelligence Use: Portions of this site’s content were generated or assisted by AI and reviewed by Erik Romano, MD; however, errors or omissions may occur.

USMLE® is a registered trademark of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). Doctogenic and Roscoe & Romano are not affiliated with, sponsored by, or endorsed by the USMLE, FSMB, or NBME. Neither FSMB nor NBME has reviewed or approved this content. "USMLE Step 1" and "USMLE Step 2 CK" are used only to identify the relevant examinations.