Rheumatological Disorders Study Guide

Patient Presentation: Male patient reports persistent low back pain.
Condition Overview: This presentation suggests possible ankylosing spondylitis.

Early Symptoms:
- Low back pain starting in early twenties.
- Insidious progression over time.
Physical Findings:
  - Restricted motion and stiffness in the lumbar and sacral areas.
  - Loss of normal lumbar curvature; patients may display lordosis and eventually kyphosis.
  - Presence of sacroiliitis on imaging.
Comorbid Conditions:
  - Heel pain.
  - Dactylitis (inflamed digits, also referred to as "sausage fingers").
  - Uveitis.
  - Inflammatory bowel disease (IBD) – not to be confused with irritable bowel syndrome.
  - Psoriasis.
  - Fatigue.

Underlying Mechanism: Related to an overactive immune system.
- Interaction of genetics, immune system dysfunction, and gut microbiome.
Genetic Marker: Major histocompatibility complex (HLA-B27) plays a notable role.
- Present in 80-95% of Caucasian patients; lower rates in Black patients.
Inflammation Process:
  - Begins with inflammation affecting fibrocartilage at vertebrae and sacroiliac joints.
  - Infiltration of immune cells erodes fibrocartilage.
  - Healing phase leads to abnormal bone formation and osseous fusion, as seen in imaging studies.

History and Physical Examination: Primary methods of diagnosis.
Laboratory Work:
- Testing for HLA-B27.
- Sedimentation rates and C-reactive protein (CRP) levels elevated in rheumatological diseases.
Imaging Studies:
- X-rays and MRIs to assess structural changes in joints and spine.

Management Strategies: Chronic disease requiring long-term management.
- Nonsteroidal anti-inflammatory drugs (NSAIDs) for pain relief.
- Physical therapy to maintain skeletal mobility and prevent contractures.
Prognosis: Generally favorable; no significant premature mortality.
- However, chronic pain and mobility reduction can impact quality of life.

Patient Presentation: Patient complains of severe pain in the toe, awoken by discomfort from sheets touching the area.

Acute Attack Symptoms:
  - Monoarticular joint involvement, primarily the first metatarsophalangeal joint (great toe).
  - Severe pain, redness, swelling extending beyond the joint.
  - Functional disability due to pain.
Triggers for Attacks:
  - Alcohol consumption (beer, spirits, wine).
  - Stress, trauma, or surgery can initiate flare-ups.
  - Consumption of fatty foods, organ meats, and seafood.
  - Specific food sensitivities (example: peanuts).
  - Dehydration and certain medications can exacerbate the condition.

Hyperuricemia: Excess uric acid in the body due to:
- Overproduction of uric acid.
- Impaired renal excretion of uric acid.
Crystal Deposition:
- Monosodium urate crystals form in joints, triggering inflammation.
Immune Response:
- Recruitment of macrophages, neutrophils, and inflammatory cytokines results in acute inflammation.
Complications: Can lead to chronic joint deformities and kidney issues (e.g., uric acid nephropathy, kidney stones).

Standard Diagnostic Methods:
- Joint aspiration is the gold standard but many diagnoses are made clinically.
- Elevated uric acid levels in blood tests determine hyperuricemia.

Acute Management:
- NSAIDs and glucocorticoids for inflammation.
- Joint injections of corticosteroids as needed.
Preventive Strategies:
- Lifestyle modifications (weight loss, exercise).
- Dietary management (avoiding high-purine foods).
Long-term Medications: Uric acid-lowering agents (e.g., allopurinol).

Condition Overview: Systemic scleroderma (formerly known as scleroderma) is an autoimmune disorder affecting connective tissue.

Skin Changes:
- Excess collagen deposition leads to thickening and hardening, particularly in the face and hands.
Calcinosis: Calcium deposits can appear in the skin or bones.
Sclerodactyly: Localized tightening of the skin on fingers.
Raynaud's Phenomenon: Vascular changes in extremities leading to color changes and pain in response to cold or stress.
Other Systemic Involvement:
- Esophageal dysmotility, pulmonary diseases (interstitial lung disease or pulmonary hypertension), and potential renal damage.
- Musculoskeletal symptoms like arthritis and joint contractures.

Long-Term Outcomes: Historically poor prognosis, with significant morbidity stemming from collagen deposition affecting multiple body systems.

Condition Overview: Reactive arthritis (formerly called Reiter syndrome) is a type of arthritis that develops in response to an infection elsewhere in the body.

Onset: Following a bacterial infection, commonly Chlamydia.
Symptoms:
- Peripheral arthritis, often affecting the knees, accompanied by inflammation of tendons and ligaments (enthesitis).
- Uveitis and possible musculocutaneous symptoms (conjunctivitis and genitourinary symptoms).
Common Mnemonic: "Can't see, can't pee, can't climb a tree" to remember associated symptoms.

Proactive Measures: Treatment of the underlying infection and management of inflammatory symptoms.
- Generally a self-limiting condition resolving within 6-12 months.

Condition Overview: Occurs in patients with psoriasis, affecting approximately 30% of those with the skin condition.

Types: Can be peripheral, axial, or both.
Symptoms:
- Nail pitting, onycholysis, and possible uveitis.
Pathophysiology: Similar to rheumatoid arthritis, marked by hyperactive B-cell activity leading to autoantibody production.

Treatment: Focused on managing the underlying psoriasis and addressing joint symptoms through physical therapy and exercise.

Giant Cell Arteritis (GCA) and Polymyalgia Rheumatica (PMR):
- Both conditions are associated with inflammation, typically in an aging population.
GCA Symptoms: Severe headaches, potentially leading to visual disturbances; requires immediate medical intervention (temporal biopsy).
PMR Symptoms: Characterized by bilateral aching and morning stiffness in proximal muscles, particularly affecting the neck, shoulders, and hips.
- Acute phase reactants elevated (ESR and CRP).
Treatment: Rapid response to corticosteroids (e.g., prednisone) can alleviate symptoms rapidly.

Overview: Rare/less common forms of myositis can manifest with proximal muscle weakness.
Viral Myositis: Associated with muscle tissue breakdown, potentially leading to rhabdomyolysis.
Polymyositis and Dermatomyositis: Diagnosed via muscle biopsy and treated with immunosuppressive therapy. Risk of malignancy is higher in these conditions.