Severe Thrombocytopenia as an Early Manifestation in a Young Female with Sjögren’s Syndrome

Abstract

Thrombocytopenia is defined as a reduction in circulating platelet count below 1.5 L/µL, resulting from reduced platelet production or increased destruction secondary to infections, drugs, immune mechanisms, or systemic diseases. In this case, we report a 20-year-old young Indian female presenting with fever, fatigue, and bilateral parotid swelling with severe thrombocytopenia. Laboratory investigations revealed mild anemia, weakly positive antinuclear antibody, reduced salivary flow rate, and minor salivary gland biopsy showing focal lymphocytic sialadenitis, suggesting Sjögren’s syndrome with secondary immune thrombocytopenia (ITP). The patient was started on oral steroids, and there was significant clinical improvement and improvement in thrombocytopenia. This case emphasizes the importance of evaluating autoimmune causes in unexplained thrombocytopenia in young patients and not ruling them out as a viral etiology.

INTRODUCTION

Thrombocytopenia is defined as a reduction in circulating platelet counts below 150,000/µL. It encompasses a broad spectrum of causes ranging from benign to life-threatening conditions.[1,2] immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by isolated thrombocytopenia. It can be primary ITP or secondary ITP due to drugs, infections, autoimmune diseases, or malignancies. Sjögren’s syndrome (SS) is a chronic systemic autoimmune disorder characterized by exocrinopathy, with symptoms of dry eyes and dry mouth, and extraglandular manifestations that commonly affect the lungs, kidneys, peripheral nerves, and bone marrow.[2] Up to 5%–16% of patients with primary SS develop thrombocytopenia.[3,4]

CASE REPORT

A 20-year-old woman presented with 3 days of high-grade fever, chills, fatigue, and 1 month of bilateral parotid swelling. She also reported worsening dry mouth for 6 months. She has no bleeding manifestations, respiratory symptoms, burning micturition or other urinary symptoms, gastrointestinal symptoms, or any recent drug exposure. She had been treated for parotitis at another hospital 1 month earlier with no clinical improvement. There was no significant past or family history, and the patient has no comorbidities.

On examination, the patient had pallor and bilateral parotid enlargement with tenderness and cervical lymphadenopathy.

The patient was vitally stable with regular S1 and S2 heart sounds on cardiovascular examination. Respiratory examination showed normal vesicular breath sounds. A soft, nontender abdomen was noted on per abdomen examination, and neurological examination revealed no focal neurological deficits.

Initial laboratory tests showed platelets 32,000/µL (normal range: 1.5–4.5 lakh/µL), hemoglobin 9.3 g/dL (normal range: 12–16 g/dL), and a normal leukocyte count. Peripheral smear revealed moderate thrombocytopenia, anisopoikilocytosis, and occasional giant platelets. Liver and renal function tests, as well as urine microscopy, were normal. Testing for human immunodeficiency virus, hepatitis C, hepatitis B surface antigen, dengue, chikungunya, malaria, and tuberculosis was negative.

Ultrasonography of the abdomen revealed no organomegaly. Neck ultrasonography showed an enlarged bilateral parotid gland with heterogeneous echotexture and increased vascularity, and multiple intraglandular lymph nodes, findings suggestive of autoimmune sialadenitis.

Antinuclear antibody (ANA) was positive at 1:100 with a nucleoplasmic granular pattern; ANA-blot was negative. Bone marrow examination showed normocellular marrow with normal trilineage hematopoiesis.

Lip biopsy of the minor salivary gland showed focal lymphocytic sialadenitis on histopathological examination [Figure 1], suggestive of SS. To confirm the diagnosis, an unstimulated whole-saliva flow rate test was performed, yielding a rate of <0.1 mL/min, further supporting the diagnosis of SS. Schirmer’s test and ocular staining scores were within normal limits, taking her European Alliance of Associations for Rheumatology (EULAR) classification score of 4.

Figure 1.

Minor salivary gland of lip biopsy – histopathological examination showing focal lymphocytic sialadenitis, suggestive of Sjögren’s syndrome (H&E, ×200)

The patient received intravenous fluids, antipyretics, and antibiotics for parotitis. Oral corticosteroids were initiated for secondary ITP associated with SS. Hydroxychloroquine was planned for long-term management. The patient was discharged once her platelet count reached 1 lakh/µL and was asked to follow up in the outpatient department. On follow-up, her platelet count improved to 3.7 lakh/µL, and sicca symptoms have decreased significantly.

DISCUSSION

This young Indian woman in her early 20s presented with the combination of severe thrombocytopenia, bilateral parotitis, and weakly positive ANA. Autoimmune-related thrombocytopenia is a recognized extraglandular manifestation of primary SS. The American College of Rheumatology/EULAR 2016 criteria were applied, with a positive labial salivary gland biopsy and reduced salivary flow rate contributing to a diagnostic score of 4 points.[5]

Autoimmune diseases, including SS and systemic lupus erythematosus (SLE), are well-documented causes of secondary ITP. In a study of 164 ITP patients, Chen et al. found that 18.82% had primary SS.[6] Another cohort reported a 12% prevalence of ITP among SS patients, especially in younger individuals.[7] Xu et al. reported high disease activity and a high rate of thrombocytopenia in SS-associated ITP, often accompanied by anti-SSA/Ro-52 positivity.[8] Although our patient lacked specific SS autoantibodies, her biopsy and salivary flow confirmed the diagnosis.

Parotid involvement in SS ranges from glandular enlargement to benign lymphoepithelial lesions.[9,10] Our patient showed typical ultrasound features of autoimmune sialadenitis. Similar cases of parotid enlargement mimicking infectious parotitis have been documented, particularly in young females with early-stage disease.

Thrombocytopenia in SS typically results from autoimmune platelet destruction and often responds well to corticosteroids.[11] In our case, platelet counts showed rapid improvement after initiating oral steroids. Hydroxychloroquine may help maintain disease control in the long term.

Exclusion of undifferentiated connective tissue disease (UCTD) was important. While young females often present with incomplete autoimmune profiles, UCTD frequently has a mild course with minimal organ involvement.[12] Our patient met definitive criteria for SS, supported by biopsy and low salivary flow rate, as well as sicca features.

This case emphasizes the importance of evaluating autoimmune diseases in young females presenting with cytopenias and recurrent parotitis. Early diagnosis with appropriate therapy will help in management.

CONCLUSION

A 20-year-old woman initially treated as viral parotitis was diagnosed with SS, presenting with secondary ITP. Bilateral parotid enlargement, positive ANA, low salivary flow, and lymphocytic sialadenitis were key to diagnosis. Early recognition of autoimmune causes of thrombocytopenia is essential, as prompt steroid therapy can lead to rapid improvement.

Take-home messages

1. Autoimmune causes must be considered and evaluated in young patients with thrombocytopenia and should not be ruled out as a viral etiology

2. Early diagnosis and appropriate management are adequate for secondary ITP associated with SS

3. A high index of clinical suspicion is needed for appropriate diagnosis and management.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initial will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.