Diagnostic approach to connective tissue disorder: Spotlight on adult-onset still’s disease

Jasmine1*, Prema2, Sripreethi3, Asha Benat4

1Non Critical Ward supervisor, Kauvery Hospital, Heartcity, Trichy, Tamil Nadu

2Infection Prevention Control Nurse, Kauvery Hospital, Heartcity, Trichy, Tamil Nadu

3Nurse Educator, Kauvery Hospital , Heartcity, Trichy, Tamil Nadu

4Non Critical ward staff Nurse, Kauvery Hospital , Heartcity, Trichy, Tamil Nadu

*Correspondence

Abstract

A 17-year-old girl, studying 12th std presented with fever, cold, cough, vomiting and followed by weight loss for which she got admitted at Pudukottai GH for 15 days. No improvement noticed her parents discharged from there and got admitted at Child Jesus hospital. The consultant seen and referred to our hospital for further treatment and management, developed chest pain, fever with polyarthralgia of almost 2-3 weeks duration.

Key words: Connective tissue disorders (CTDs); Marfan syndrome

Introduction

Connective tissue disorders (CTDs) are a diverse group of over 200 conditions that damage the structural, elastin and collagen framework of the body, affecting skin, joints, muscles, and organs. They are primarily categorized into autoimmune (e.g., lupus, scleroderma, rheumatoid arthritis) or genetic (e.g., Marfan syndrome, Ehlers-Danlos) types.

Signs and Symptoms

  • Chronic joint/muscle pain
  • Skin changes
  • Fatigue
  • Stiffness
  • Rash

Causes of Connective Tissue Disorder Connections: AOSD is often classified within the spectrum of inflammatory, systemic rheumatic diseases (similar to autoimmune conditions) because it affects multiple tissues and organs.

Overlap Symptoms: Joint pain, rash, fever, and fatigue overlap with Systemic Lupus Erythematosus (SLE) and Rheumatoid Arthritis (RA).

Organ Involvement: Inflammation can lead to joint destruction (especially in the wrists), pericarditis (heart lining), and lung complications.

Adult-onset still’s disease

Adult-Onset Still’s Disease (AOSD) is a form of Still’s disease, a rare systemic auto inflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion.[1] Levels of the iron-binding protein ferritin may be extremely elevated with this disorder. AOSD may be presented in a similar manner to other inflammatory diseases and two autoimmune diseases, which must be ruled out before making the diagnosis.

Prognosis is usually favorable but manifestations of the disease affecting the lungs, heart, or kidneys may occasionally cause severe life-threatening complications.[2] It is treated first with corticosteroids such as prednisone. Medications that block the action of interleukin-1, such as anakinra, can be effective treatments when standard steroid treatments are insufficient.

Signs and Symptoms

Causes and Triggers of Adult-Onset Still’s Disease:

  • Infectious Triggers:  Although not contagious, the disease often follows viral or bacterial infections, including Cytomegalovirus (CMV), Epstein-Barr virus (EBV), HIV, Hepatitis A, B, or C, and bacteria such as Mycoplasma pneumonia.
  • Immune Dysfunction:  AOSD is considered an auto inflammatory condition, where the innate immune system goes into overdrive, releasing excessive cytokines (IL-1, IL-6, IL-18, and TNF) even without an active infection.
  • Genetic Factors:  While not directly inherited, specific human leukocyte antigen (HLA) types such as HLA-B17, B18, B35, and DR2 may predispose individuals to the disease.

Case Presentation

She was evaluated and found to have pericardial effusion, and blood culture was sent. Her investigations at the time revealed elevated total count for which peripheral smear was done there, which was inconclusive. Since the patient was in persistent fever, she was referred here for further management. On admission, patient was febrile and toxic. Patient complaints of decreased intake, persistent cough, sputum and inability to walk. She was admitted. Initial evaluation revealed elevated total count with anemia and hypo-albuminemia. Echo was done, which revealed mild pericardial effusion with transudative pericardial effusion suggestive of chronic pericardial effusion. X-ray was inconclusive. Blood culture was sent, which was sterile. Procalcitonin was elevated. Since she was having persistent cough for which Pulmonologist and general physician opinion was obtained. In view of polyarthralgia with fever, Rheumatologist opinion was obtained and ANA was done, which revealed positive for antinuclear antibody by immune fluorescence method for which Rheumatologist review was obtained, they suspected patient having adult-onset still’s disease, which might be the cause for fever and high ferritin level. Patient started with steroid Methylprednisolone 6 mg IV Bd. After steroid, patient gradually responded and fever subsided. Patient was symptomatically better. Since her WBC count was elevated (36,360). Hematologist opinion was obtained and bone marrow aspiration done. Advised to follow a rheumatologist with a bone marrow report after 1 week.

Clinical findings

  • Fever
  • Cold
  • Persistent Cough
  • Chest pain
  • Vomiting
  • Weight loss
  • Joint pain
  • Decreased intake
  • Inability to walk
  • Hb -7.7
  • WBC – 36,360
  • albumin – 2.6
  • Procal – 24
  • Ferritin – 19,000
  • ANA Immunofluorescence (IgG) – Positive
  • Widal – negative
  • Mantoux – Negative
  • Blood culture – sterile
  • USG abdomen – Hepatomegaly
  • CT chest – Left side mild pleural effusion
  • Echo – Mild Pericardial effusion

Investigation

X-ray

Diagnosis

  • Connective tissue disorder
  • Adult-onset Still’s disease
  • Pyrexia of unknown origin
  • Mild pericardial effusion
  • Polyarthralgia
  • Lower respiratory tract infection
  • Sepsis – secondary to bacterial infection
  • Hypoalbuminemia – Chronic Anemia
  • Bone marrow aspiration done (reports awaited)

Management

Nursing management for a patient with fever, arthralgia (joint pain), and vomiting in the context of an autoimmune disorder focuses on stabilizing the patient, managing pain, replacing fluid losses, and suppressing immune-mediated inflammation.

  • Assessed vital signs and monitored temperature, heart rate, blood pressure, and respiration frequently to detect sepsis or severe dehydration.
  • Assessed and evaluated joint pain, stiffness, and the effectiveness of analgesics or anti-inflammatories
  • Monitored intake and output strictly to prevent dehydration due to vomiting and high-grade fever.
  • Review C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), white blood cell counts, and metabolic panels to monitor inflammation and organ function.
  • Administered prescribed acetaminophen or NSAIDs to lower body temperature and reduce pain.
  • Administered intravenous fluids as ordered to correct dehydration.

Outcome

The patient was treated conservatively with necessary supportive measures. Patient condition improved and being discharged in a stable condition.

Discharge

Medications

Tab.wysolone40mg OD x 7 days
Tab. Pan40mgBD (before food) X 7 DAYS
Tab. Faronem er300mgBD x 7 days
Tab. Hcq200mgBD x 7 days
Syp. Sucrafil o1tspTDS

Discussion about medical aspects

The patient was admitted to medical management. She was presented with fever, cough, cold, chest pain, weight loss, decreased intake and polyarthralgia. Relevant investigations were carried out. The patient was started on I.V antibiotics, I.V fluids and steroids and responded well. Close monitoring and supportive care were continued. The overall condition of the patient was stable.

Discussion about nursing Aspects

The patient required close monitoring of vital signs, fluid intake and output, and overall response to treatment. Nursing care focused on maintaining comfort, ensuring adequate hydration, administering prescribed medications on time, and observing for any signs of complications of infection, shortness of breath, or changes in consciousness. Patient and family education was provided regarding disease process, medication adherence, and importance of follow up care. Emotional support was also given to reduce anxiety and promote recovery.

Conclusion

The patient is symptomatically better; patient discharged and advised to review after 1 week for further evaluation and to collect the bone marrow report. Advised to follow up with Rheumatologist.

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