Achondroplasia

Disease Description (Causes and Symptoms)

• Definition/Pathophysiology: A chronic degenerative joint disease in which repeated damage and wear of articular cartilage cause the cartilage to become thin or defective, exposing the bone beneath the cartilage (subchondral bone sclerosis); inflammation around the joint and osteophyte formation result in pain and reduced joint function.
• Main causes: In addition to age-related changes, major causes include genetic predisposition, mechanical overload due to obesity, previous joint trauma or repetitive microtrauma, intra-articular inflammation (such as previous infectious arthritis), and abnormal joint alignment.
• Main symptoms
  • Joint pain (particularly worsened with use or weight-bearing; severe knee pain when going up or down stairs)
  • Joint stiffness (generally stiffer after activity rather than in the morning; prolonged morning stiffness is shorter than in rheumatoid arthritis)
  • Reduced range of joint motion and decreased muscle strength around the joint
  • Joint swelling or joint fluid (fluid buildup in the knee)
  • Crepitus and joint deformity (in severe cases)
  • Features by location: knee·hip (difficulty walking), spine (low back pain and radiating pain with symptoms similar to a disc disorder), fingers (joint enlargement and pain in middle-aged women, Heberden/Bouchard nodes)
• Diagnostic points: Suspected based on clinical findings and physical examination, and confirmed with X-ray examination (joint-space narrowing, osteophytes, subchondral sclerosis, etc.). If joint fluid is present, aspiration followed by testing can help distinguish other conditions (and rule out infectious or inflammatory lesions).

Treatment Methods

• Goals: Relieve pain, maintain function and delay worsening, and improve the ability to perform daily activities
• Non-pharmacological treatment (basic treatment, recommended first)
  • Weight loss (in cases of obesity, weight reduction is important for relieving symptoms and suppressing progression)
  • Regular joint-protective exercise (strengthening, flexibility, and aerobic exercise). Guidance from a professional (physical therapist) is recommended initially.
  • Braces (knee braces, canes, etc.) and improvement of the living environment (take care to avoid slipping on stairs and floors)
  • Physical therapy (heat and electrical therapy, manual therapy, strength rehabilitation)
• Pharmacological treatment
  • Antipyretic analgesics/analgesics: acetaminophen (for mild pain) — effectiveness is limited
  • NSAIDs (oral·topical): Consider topical NSAIDs (cream/gel) first; for systemic NSAIDs, consider gastrointestinal, cardiovascular, and kidney risks
  • Short-term oral steroids are not recommended ( 제한된 전신 사용)
  • Intra-articular steroid injections: May be used for acute symptom relief, but frequent injections carry a risk of cartilage damage
  • Intra-articular hyaluronic acid injections: Effectiveness is controversial (pain relief has been reported in some patients); consider cost and effectiveness
  • Other medications: Topical capsaicin; for chronic pain, neuropathic pain medications such as duloxetine may be considered
  • Supplements such as glucosamine and chondroitin: Symptom improvement has been reported in some patients, but objective evidence is limited
• Procedures/Surgery
  • Arthroscopy and limited surgical treatment (when mechanical symptoms are present)
  • Osteotomy: Considered in active younger patients with specific alignment abnormalities
  • Articular cartilage restoration (limited to focal lesions)
  • Joint replacement (artificial joint replacement, e.g., total knee replacement·total hip replacement): Standard treatment when conservative treatment does not improve symptoms and functional impairment and pain are severe
• Precautions
  • Repeated intra-articular steroid injections carry a risk of accelerating cartilage damage
  • When using NSAIDs, check comorbidities and concomitant medications, considering the risk of gastrointestinal, cardiovascular, and kidney side effects
  • Infection prevention and appropriate rehabilitation before and after surgery are essential
• Complications: Joint deformity, loss of function, increased risk of falls and fractures, and reduced quality of life due to chronic pain

Checklist Before an Outpatient Visit (Including Sample Questions)

• Items to bring and information to provide
  • List of medications currently being taken (including prescription drugs, over-the-counter drugs, nutritional products, and supplements)
  • Medical history (joint trauma, joint surgery, history of infectious arthritis, etc.)
  • Recent test and imaging results (copies of X-rays, MRI scans, and blood test results, if available)
  • Symptom records: time of onset, location, pain intensity (pain scale), factors that worsen or improve symptoms, duration of pain, and limitations in daily activities
  • Lifestyle information: weight, amount of exercise, occupation (whether it involves repetitive joint use)
  • Allergies (including drug allergies) and chronic diseases (hypertension, cardiovascular disease, gastrointestinal disease, kidney disease, etc.)
• Priority information to tell the doctor in advance during the outpatient visit
  • If the joint is swollen and warm with extreme pain (suspected infectious arthritis)
  • Whether there has been recent joint trauma or accompanying fever
• Sample questions to ask during the visit (patients are encouraged to write these down and bring them)
  • Was there a specific event or daily activity that made the pain worse?
  • What medications and supplements are you currently taking?

General Sample Questions to Ask the Doctor

• What are the expected effects and side effects of this medication (or injection)?
• How much improvement can be expected with non-pharmacological treatment (exercise·weight control)? What types and frequency of exercise are recommended?
• Do I need to take NSAIDs or other medications long term? How will the risks be managed?
• Would an intra-articular injection (steroid/hyaluronic acid) be advisable in my case? What are the expected benefits and risks?
• How is the timing of surgery (e.g., artificial joint replacement) determined? What are the recovery and rehabilitation processes like?

Examples of Disease-Specific Questions

• Could you explain whether the X-ray findings of my knee (or hip) are severe enough to recommend artificial joint replacement surgery? What are the functional and pain criteria?
• If I lose weight and perform strength exercises, how much improvement in pain is likely? Could you provide specific goals (weight loss in kg, exercise duration and type)?

(If necessary, bringing examination results or a symptom diary can help you discuss the diagnosis and treatment plan in greater detail.)