Musculoskeletal · PANCE / PANRE

Sjögren Syndrome

Chronic autoimmune exocrinopathy producing keratoconjunctivitis sicca and xerostomia.

Also known as: Sjogren syndrome, Sjögren syndrome, primary Sjögren, sicca syndrome

Overview

A chronic systemic autoimmune disease characterized by lymphocytic infiltration of exocrine glands, producing dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia), with frequent extraglandular involvement. Primary Sjögren occurs in isolation; secondary Sjögren accompanies another autoimmune disease, most commonly rheumatoid arthritis, SLE, or systemic sclerosis.

Epidemiology

Estimated prevalence 0.5-1.0 percent. Female-to-male ratio approximately 9:1. Peak onset in the fifth and sixth decades.

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Risk factors

  • Female sex
  • Age 40-60
  • Family history of autoimmune disease
  • HLA-DR3, HLA-DQ2 associations
  • Existing autoimmune disease (secondary Sjögren)
  • Viral exposure has been implicated (Epstein-Barr virus, hepatitis C, HTLV-1) but not firmly established

Pathophysiology

Lymphocytic (predominantly CD4+ T-cell and B-cell) infiltration of exocrine glands disrupts secretion. B-cell hyperactivity produces hypergammaglobulinemia and characteristic autoantibodies (anti-SSA/Ro and anti-SSB/La). Chronic glandular inflammation may evolve into lymphoma, particularly mucosa-associated lymphoid tissue (MALT) lymphoma of the parotid.

Clinical presentation

Symptoms

  • Dry eyes — sandy, gritty sensation, foreign body feeling, photophobia, decreased tearing
  • Dry mouth — difficulty swallowing dry foods, frequent water intake at meals, dental caries, oral candidiasis
  • Parotid enlargement (recurrent or persistent)
  • Vaginal dryness and dyspareunia
  • Fatigue and arthralgia
  • Symptoms of extraglandular disease: Raynaud, rash, lung disease, neuropathy

Signs / physical exam

  • Decreased tear production (Schirmer test <5 mm wetting in 5 minutes is abnormal)
  • Corneal staining with rose bengal, fluorescein, or lissamine green
  • Dry, fissured tongue, salivary pooling absent
  • Dental caries, particularly at the gum line
  • Parotid enlargement
  • Purpuric rash from hypergammaglobulinemic purpura on lower extremities
  • Articular involvement — non-erosive inflammatory polyarthritis

Classic findings

Middle-aged woman with progressive ocular and oral dryness, bilateral parotid enlargement, positive anti-SSA/Ro and anti-SSB/La antibodies, and dental caries.

Differential diagnosis

  • Age-related sicca — Mild dryness without systemic symptoms, normal labs, normal salivary gland biopsy
  • Medication-induced dryness — Anticholinergics, antihistamines, antidepressants, antihypertensives; resolves with discontinuation
  • IgG4-related disease (Mikulicz syndrome) — Symmetric salivary and lacrimal gland enlargement, elevated IgG4, characteristic histology
  • Sarcoidosis — Bilateral hilar lymphadenopathy, elevated ACE, non-caseating granulomas; salivary involvement (Heerfordt syndrome)
  • HIV-associated diffuse infiltrative lymphocytosis syndrome (DILS) — Salivary gland enlargement and CD8+ infiltrate in HIV; SSA/SSB negative
  • Head and neck radiation history — Permanent xerostomia after radiation therapy

Diagnostic workup

Diagnostic criteria

ACR/EULAR 2016 classification criteria. Diagnosis requires a score ≥4 from the weighted items: anti-SSA positive (3), focus score ≥1 on labial biopsy (3), abnormal ocular staining score ≥5 (1), Schirmer test ≤5 mm/5 min (1), unstimulated salivary flow ≤0.1 mL/min (1). Patients must have symptoms of ocular or oral dryness or systemic features.

Labs

  • Anti-SSA (Ro) — positive in 70-90 percent; anti-SSB (La) — positive in 40-60 percent
  • ANA — positive in 70-80 percent
  • Rheumatoid factor — positive in 50-70 percent
  • CBC (cytopenias), CMP, ESR, CRP, immunoglobulins (hypergammaglobulinemia), complement (low C3/C4 in vasculitis)
  • Cryoglobulins, urinalysis, and renal function in suspected glomerulonephritis or cryoglobulinemia

Imaging

  • Schirmer test, tear breakup time, ocular staining score by ophthalmology
  • Unstimulated whole salivary flow rate (<0.1 mL/min is abnormal)
  • Salivary gland ultrasound — increasingly used to demonstrate characteristic glandular heterogeneity
  • Minor salivary gland (labial) biopsy — focus score ≥1 (≥1 cluster of ≥50 lymphocytes per 4 mm² of glandular tissue) is the gold standard

Diagnostic algorithm

DomainTestAbnormal Result
OcularSchirmer test<5 mm wetting in 5 min
OcularOcular staining score≥5
OralUnstimulated salivary flow≤0.1 mL/min
SerologyAnti-SSA (Ro)Positive
HistologyLabial salivary gland biopsyFocus score ≥1
Key diagnostic tests for Sjögren syndrome under the ACR/EULAR 2016 criteria.

Treatment

First-line

  • Symptom-directed therapy is the cornerstone
  • Dry eyes: preservative-free artificial tears, lubricant gels at night, environmental humidification, avoidance of antihistamines and decongestants; topical cyclosporine (Restasis) or lifitegrast for moderate-severe disease
  • Dry mouth: frequent sips of water, sugar-free lozenges and gum, saliva substitutes, meticulous dental hygiene with topical fluoride and routine cleanings
  • Cholinergic agonists (pilocarpine, cevimeline) to stimulate residual salivary and lacrimal function
  • Hydroxychloroquine for fatigue, arthralgia, and rash
  • Methotrexate or azathioprine for inflammatory arthritis

Second-line / adjunct

  • Systemic glucocorticoids for severe extraglandular disease (vasculitis, glomerulonephritis, severe inflammatory arthritis)
  • Rituximab for systemic involvement, cryoglobulinemic vasculitis, refractory disease, and certain neurologic complications
  • Immunosuppressive agents (mycophenolate, cyclophosphamide) for vasculitis, severe ILD, or glomerulonephritis
  • Punctal plugs for refractory ocular dryness

Complications

  • Severe dental caries, periodontal disease, oral candidiasis
  • Corneal ulceration and visual loss from severe keratoconjunctivitis sicca
  • Non-Hodgkin lymphoma — typically MALT lymphoma of the parotid; lifetime risk 5-10 percent, with persistent parotid enlargement, lymphadenopathy, low C4, and cryoglobulins as risk factors
  • Interstitial lung disease (NSIP pattern, LIP, organizing pneumonia)
  • Renal involvement (interstitial nephritis, renal tubular acidosis)
  • Peripheral neuropathy (sensory, small fiber, sensorimotor) and CNS disease (rare)
  • Cutaneous vasculitis

PANCE pearls

  • Anti-SSA crosses the placenta and can cause congenital heart block in offspring — pregnancies require fetal echocardiographic monitoring between 16-26 weeks.
  • Persistent unilateral parotid enlargement raises concern for lymphoma and warrants biopsy.
  • Sjögren is the most common cause of distal renal tubular acidosis (type 1) — check for hypokalemic, non-anion-gap metabolic acidosis with inability to acidify urine.
  • Sicca symptoms can also result from medications — review the medication list before pursuing extensive workup.

References

  • ACR/EULAR 2016 — Shiboski CH et al., 2016 American College of Rheumatology/European League Against Rheumatism classification criteria for primary Sjögren's syndrome (Arthritis Rheumatol 2017)
  • EULAR 2020 — Ramos-Casals M et al., EULAR recommendations for the management of Sjögren's syndrome with topical and systemic therapies (Ann Rheum Dis 2020)

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