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Arthritis Associated with Systemic Disease, and Other Arthritides

Chapter 386 | Part 11: Immune-Mediated, Inflammatory, and Rheumatologic Disorders

KEY CLINICAL POINTS

  • Fibromyalgia is characterized by widespread musculoskeletal pain, with treatment including NSAIDs, antidepressants, and anticonvulsants.
  • Hemochromatosis arthropathy presents as osteoarthritis-like changes in small joints, with treatment involving phlebotomy and NSAIDs.
  • Hemophilia A and B lead to recurrent hemarthrosis, requiring prophylactic clotting factor replacement and synovectomy.
  • Sickle cell disease causes musculoskeletal complications like dactylitis, osteonecrosis, and avascular necrosis, managed with hydroxyurea and transfusions.
  • Neuropathic joint disease (Charcot joint) in diabetes mellitus requires immobilization, orthotics, and surgical intervention for severe cases.

1. DEFINITION & OVERVIEW

Arthritis associated with systemic diseases encompasses conditions where musculoskeletal symptoms are secondary to underlying systemic disorders. Other arthritides include crystal-induced (gout, pseudogout), metabolic (hyperlipidemia), and neoplastic (PVNS, synovial sarcoma) causes. Key differentials include hemochromatosis, hemophilia, sickle cell disease, and myofascial pain syndromes.

Table 385-3: Pharmacologic Agents for Fibromyalgia

DRUG DOSE
Cyclobenzaprine 10–40 mg daily, at bedtime or in divided doses up to 4×/d
Amitriptyline 10–50 mg/d; recommended to take at bedtime
Duloxetine 60 mg/d; begin at 30 mg/d for 1 week
Milnacipran 50 mg bid; titrate over 7 days
Pregabalin 150–450 mg/d; begin at 75 mg bid for at least 1 week
Tramadol 37.5 mg tramadol + 325 mg acetaminophen up to 4×/d

1.1 Fibromyalgia

Chronic widespread pain with tender points, often linked to spinal hypermobility. Treatment includes serotonin-norepinephrine reuptake inhibitors (SNRIs), pregabalin, and muscle relaxants.

1.2 Hemochromatosis Arthropathy

Osteoarthritis-like changes in small joints, with subchondral sclerosis and calcification. Early diagnosis via serum transferrin saturation and iron studies.

1.3 Hemophilia Arthropathy

Recurrent hemarthrosis leading to chronic synovitis and fibrosis. Prophylactic clotting factor replacement and synovectomy are critical.

2. EPIDEMIOLOGY

Fibromyalgia affects ~2% of adults, more common in women. Hemochromatosis prevalence is 1 in 200 in high-risk populations. Hemophilia A (85% of cases) and B (15%) are inherited disorders. Sickle cell disease affects ~100,000 in the U.S., with 1 in 13 African Americans carrying the trait. HOA occurs in 5–10% of patients with intrathoracic malignancies.

2.1 Risk Factors

Genetic predisposition (e.g., HFE gene mutations), chronic inflammation, and metabolic disorders (hyperlipidemia, hyperparathyroidism).

2.2 Demographics

Fibromyalgia: 75–90% female. Hemochromatosis: more common in men over 40. Sickle cell disease: highest prevalence in African, Mediterranean, and Middle Eastern populations.

3. ETIOLOGY & PATHOPHYSIOLOGY

Systemic diseases (e.g., hemochromatosis, hemophilia, sickle cell disease) cause joint damage via iron deposition, clotting factor deficiency, or vasoocclusion. Hyperlipidemia leads to crystal deposition (pseudogout) or periostitis. Neoplasms (e.g., PVNS, synovial sarcoma) cause synovial proliferation. Neurogenic arthritis results from loss of protective reflexes in diabetes or spinal cord injury.

3.1 Hemochromatosis

Iron overload causes oxidative stress, lipid peroxidation, and synovial iron deposition. Subchondral sclerosis and chondrocalcinosis develop.

3.2 Sickle Cell Disease

Vasoocclusion leads to bone infarction, avascular necrosis, and synovitis. Hyperuricemia contributes to gout-like flares.

4. CLINICAL FEATURES

Fibromyalgia: Widespread pain, fatigue, and sleep disturbances. Hemochromatosis: Joint swelling, arthralgia, and Raynaud’s phenomenon. Hemophilia: Recurrent hemarthrosis and joint deformities. Sickle cell disease: Dactylitis, osteonecrosis, and acute chest syndrome. HOA: Clubbing, periostitis, and joint swelling.

4.1 Hemochromatosis Arthropathy

Osteoarthritis-like changes in hands, knees, and hips. Subchondral cysts and calcification. Noninflammatory synovial fluid.

4.2 Sickle Cell Crisis

Periarticular pain, joint effusions, and acute synovial infarction. Bone infarctions cause severe pain and growth plate damage in children.

5. DIFFERENTIAL DIAGNOSIS

For hemochromatosis: Primary osteoarthritis, gout, and pseudogout. For hemophilia: Septic arthritis, gout, and rheumatoid arthritis. For sickle cell disease: Osteomyelitis, avascular necrosis, and crystal arthropathy. For HOA: Osteoarthritis, malignancy, and infection.

5.1 Hemochromatosis vs. Gout

Hemochromatosis: Noninflammatory synovial fluid, subchondral calcification. Gout: Inflammatory synovial fluid, monosodium urate crystals.

5.2 HOA vs. Osteoarthritis

HOA: Rapid joint destruction, periostitis, and clubbing. Osteoarthritis: Gradual joint space narrowing and osteophyte formation.

6. INVESTIGATIONS & DIAGNOSIS

Serum ferritin, transferrin saturation for hemochromatosis. Coagulation studies (PT, aPTT) for hemophilia. Synovial fluid analysis for crystals. MRI for early HOA. Bone scans for metastatic disease. Genetic testing for sickle cell trait.

6.1 Diagnostic Criteria

Hemochromatosis: Elevated serum iron and transferrin saturation. HOA: Clubbing, periostitis, and imaging findings. Sickle cell disease: Hemoglobin electrophoresis and family history.

6.2 Imaging

MRI for early avascular necrosis, X-rays for joint space narrowing, and CT for bone cysts.

7. MANAGEMENT & TREATMENT

Phlebotomy for hemochromatosis, clotting factor replacement for hemophilia, hydroxyurea for sickle cell disease, and NSAIDs for pain. HOA requires immobilization and surgical fusion. Neoplastic arthropathy needs wide resection and chemotherapy. Myofascial pain is treated with trigger point injections and physical therapy.

Table 386-1: Musculoskeletal Abnormalities in Sickle Cell Disease

Abnormality Description
Sickle cell dactylitis Swelling of hands/feet, often in children
Avascular necrosis Femoral head, humeral head, tibial condyles
Osteomyelitis Salmonella infection, splenic dysfunction
Septic arthritis Rare but severe, requires joint aspiration

7.1 Hemochromatosis

Repeated phlebotomy to reduce iron stores. NSAIDs for arthritis. Avoid NSAIDs in patients with renal insufficiency.

7.2 Sickle Cell Disease

Hydroxyurea to reduce vasoocclusion. Transfusions for severe anemia. Pain management with acetaminophen and opioids.

8. PROGNOSIS & COMPLICATIONS

Fibromyalgia: Chronic, fluctuating pain with no cure. Hemochromatosis: Early treatment prevents organ failure. Hemophilia: Prophylaxis reduces joint damage. Sickle cell disease: Mortality from complications (e.g., stroke, infection). HOA: Progressive joint destruction, requiring surgery.

8.1 Complications

Hemochromatosis: Cirrhosis, diabetes, and heart failure. Sickle cell: Acute chest syndrome, stroke, and renal failure. HOA: Joint deformity and disability.

8.2 Long-Term Outcomes

Early intervention improves outcomes for hemochromatosis and HOA. Sickle cell disease requires lifelong management. Hemophilia with prophylaxis has better joint preservation.

9. SPECIAL CONSIDERATIONS

Pregnancy: Avoid NSAIDs in late gestation. Pediatrics: Monitor for growth plate damage in sickle cell disease. Elderly: Increased risk of osteoporosis and falls. Neoplastic arthropathy: Aggressive treatment for malignancy is critical.

9.1 Pregnancy

Avoid NSAIDs in third trimester. Use acetaminophen for pain. Monitor for fetal growth restriction.

9.2 Pediatrics

Sickle cell dactylitis resolves with treatment. HOA in children may regress with age.

10. KEY POINTS & CLINICAL PEARLS

  1. Fibromyalgia is diagnosed clinically with widespread pain and tender points. 2. Hemochromatosis arthropathy is treated with phlebotomy and NSAIDs. 3. Hemophilia requires prophylactic clotting factor replacement. 4. Sickle cell disease management includes hydroxyurea and transfusions. 5. HOA is managed with immobilization and surgical fusion. 6. Myofascial pain responds to trigger point injections and physical therapy.