Osteogenesis Imperfecta: Understanding the disorder

Estimated reading time: 12 minutes

Osteogenesis Imperfecta (OI), often referred to as “brittle bone disease,” is a rare genetic disorder that affects the strength and structure of bones. Individuals with OI have bones that break easily, often with little or no apparent cause. This condition is caused by defects in the production of collagen, a protein essential for bone strength and elasticity.

Types of Osteogenesis Imperfecta

OI is classified into several types, ranging from mild to severe, based on the severity of symptoms and genetic mutations involved:

1. Type I: The mildest and most common form. Individuals experience fractures due to mild trauma but have normal or near-normal stature. Hearing loss and dental issues are also common.
2. Type II: The most severe form, often fatal shortly after birth due to respiratory complications caused by underdeveloped lungs and severe bone deformities.
3. Type III: A severe form characterized by significant bone fragility, deformities, and growth issues. Individuals may have a shortened life expectancy but can survive into adulthood with proper care.
4. Type IV: Moderate in severity, with symptoms that vary widely. Fractures are frequent, and individuals often have mild to moderate bone deformities.

Other less common types (V–VIII) involve unique genetic mutations and specific symptoms, such as hyperplastic calluses or distinctive bone patterns visible on imaging.

Causes of Osteogenesis Imperfecta

OI is primarily caused by mutations in the COL1A1 or COL1A2 genes, which encode for type I collagen. These mutations can either reduce the production of collagen or produce structurally defective collagen, leading to weakened bones. Most cases are inherited in an autosomal dominant pattern, meaning one copy of the mutated gene is enough to cause the disorder. However, some rare cases are inherited in an autosomal recessive manner or arise from new mutations.

Symptoms of Osteogenesis Imperfecta

The hallmark symptom of OI is bone fragility, but the condition can also affect other parts of the body. Common symptoms include:

• Frequent bone fractures
• Bone deformities, such as bowed legs or scoliosis
• Short stature
• Loose joints and muscle weakness
• Hearing loss (often in adulthood)
• Dental issues, such as brittle or discolored teeth (dentinogenesis imperfecta)
• Blue sclerae (a bluish tint in the whites of the eyes)

Diagnosis

Diagnosis is typically based on clinical evaluation, family history, and imaging studies like X-rays. Genetic testing can confirm mutations in the collagen-producing genes, aiding in definitive diagnosis and type classification.

Osteogenesis Imperfecta Management

1. Medical Management

• Medications:
  • Bisphosphonates: These drugs, such as pamidronate and zoledronic acid, are the cornerstone of OI treatment. They strengthen bones by inhibiting bone resorption and increasing bone density, reducing fracture risk.
  • Other Agents: Emerging therapies like denosumab (a monoclonal antibody) and anabolic agents like teriparatide (parathyroid hormone analog) are under investigation.
  • Pain Management: Analgesics and anti-inflammatory drugs are prescribed for fracture-related pain and chronic discomfort.
• Monitoring: Regular bone density scans (DEXA) and imaging are crucial to assess bone health and treatment efficacy.

2. Physical Therapy and Rehabilitation

• Physical Therapy:
  • Tailored exercises to strengthen muscles, improve balance, and maintain joint mobility.
  • Water-based therapies (aquatic therapy) are particularly beneficial as they allow movement without stress on fragile bones.
• Occupational Therapy:
  • Focuses on enhancing daily living skills and promoting independence.
  • Training in the use of adaptive tools and devices.

3. Surgical Interventions

• Intramedullary Rodding:
  • Metal rods are inserted into long bones (e.g., femur, tibia) to prevent deformities and provide structural support.
  • This procedure reduces fracture frequency and improves mobility.
• Spinal Surgery:
  • For severe scoliosis or kyphosis, spinal fusion or other corrective procedures may be necessary.

4. Orthopedic and Assistive Devices

• Custom braces, splints, and orthotics can help support fragile bones and prevent fractures.
• Mobility aids, such as wheelchairs, walkers, or crutches, provide additional safety and reduce strain on bones during movement.

5. Nutritional Support

• Calcium and Vitamin D: Ensuring adequate levels is critical for bone health.
• High-Protein Diet: Supports collagen production and overall muscle strength.
• Monitoring for Deficiencies: Regular blood tests to check nutrient levels.

6. Psychological and Emotional Support

• Counseling: Living with a chronic condition can impact mental health. Psychological counseling helps individuals cope with the emotional aspects of OI.
• Support Groups: Connecting with others facing similar challenges can foster a sense of community and shared understanding.

Nutritional Supplements for OI

1. Calcium

• Importance: Essential for bone formation and maintenance.
• Sources: Dairy products (milk, yogurt, cheese), fortified plant-based milks (almond, soy), leafy greens (kale, spinach), and fish with bones (sardines, salmon).
• Supplementation:
  • Recommended intake varies by age, generally 1,000–1,300 mg/day.
  • Calcium citrate or calcium carbonate supplements can be used if dietary intake is insufficient.

2. Vitamin D

• Importance: Crucial for calcium absorption and bone mineralization.
• Sources: Sunlight exposure, fatty fish (salmon, mackerel), egg yolks, and fortified foods.
• Supplementation:
  • Doses of 800–2,000 IU/day are often recommended, depending on vitamin D levels.
  • Regular monitoring is important to avoid toxicity, as OI patients may require higher doses.

3. Magnesium

• Importance: Supports bone density and collagen synthesis.
• Sources: Nuts (almonds, cashews), seeds (pumpkin, flax), whole grains, and dark leafy vegetables.
• Supplementation:
  • Recommended intake: 310–420 mg/day depending on age and gender.
  • Magnesium glycinate or citrate forms are better tolerated.

4. Vitamin C

• Importance: Vital for collagen synthesis and repair.
• Sources: Citrus fruits, berries, kiwi, bell peppers, and tomatoes.
• Supplementation:
  • Daily intake of 75–90 mg/day is recommended, with higher doses during recovery from fractures.

5. Protein

• Importance: Provides the building blocks for collagen production and overall tissue repair.
• Sources: Lean meats, poultry, fish, eggs, dairy, legumes, and plant-based proteins like tofu and quinoa.
• Supplementation:
  • Protein powders (whey, collagen peptides) may be used to meet increased demands.

6. Vitamin K

• Importance: Supports bone mineralization and reduces fracture risk.
• Sources: Leafy greens (spinach, kale, broccoli), fermented foods (natto), and liver.
• Supplementation:
  • Recommended intake: 90–120 mcg/day.
  • Vitamin K2 (MK-7) may be particularly beneficial for bone health.

7. Zinc

• Importance: Enhances bone formation and immune function.
• Sources: Meat, shellfish, legumes, seeds, and nuts.
• Supplementation:
  • Daily intake: 8–11 mg/day.
  • Zinc gluconate or citrate forms are commonly used.

8. Omega-3 Fatty Acids

• Importance: Reduces inflammation and supports bone density.
• Sources: Fatty fish (salmon, mackerel), flaxseeds, chia seeds, and walnuts.
• Supplementation:
  • Fish oil capsules or algae-based supplements, with 1–3 grams/day of EPA and DHA.

9. Iron

• Importance: Necessary for oxygen transport and collagen synthesis.
• Sources: Red meat, poultry, fortified cereals, beans, and dark green vegetables.
• Supplementation:
  • Only recommended if a deficiency is confirmed, as excessive iron can be harmful.

General Dietary Recommendations

• Balanced Diet: Incorporate a variety of fruits, vegetables, whole grains, lean proteins, and healthy fats.
• Avoid Excessive Sodium: High sodium intake can increase calcium excretion, weakening bones.
• Limit Caffeine and Carbonated Beverages: Excessive consumption can negatively affect bone health.
• Hydration: Adequate fluid intake supports overall health and recovery processes.

Special Considerations for OI

• Fracture Healing: During recovery from fractures, protein and vitamin C intake should be prioritized to accelerate tissue repair.
• Malabsorption Issues: Some OI patients may have gastrointestinal issues affecting nutrient absorption. In such cases, supplementation becomes even more crucial.
• Bone Health Monitoring: Regular tests for calcium, vitamin D, and other key nutrients help guide supplementation.

From Fragile Glass to Shining Diamonds: The 13-Year Journey of the Diamond Bone Center

Nestled at the end of a quiet street in Thanh Loc Ward, District 12, Ho Chi Minh City, lies the Diamond Bone Center, a beacon of hope for children suffering from brittle bone disease (osteogenesis imperfecta). Over the past 13 years, the center has remained steadfast in its mission, quietly transforming lives. While the surroundings have changed significantly, the heart of the center remains unchanged.

Walking us through the nursery, where 18 children with brittle bone disease are being cared for and treated within the premises of his company, Mr. Ton That Hung explains that the youngest child is 4 years old, while the oldest is 18. Their conditions range from mild to severe. For instance, Ho Quoc Dat, now 9 years old, can only move by scooting on his bottom due to the deformities caused by dozens of fractures since birth. Others, with milder cases, walk with a limp or uneven gait.

Mr. Hung shares that compared to the early days, the treatment process has become more systematic, scientific, and effective. Upon arrival, each child undergoes X-rays and assessments to categorize their condition into one of four levels: mild, moderate, severe, or very severe. Based on these evaluations, personalized treatment plans—including medication, physical therapy, and nutritional diets—are developed. Notably, most children attend school and participate in recreational activities to maintain a positive mindset.

In the nursery, laughter fills the air. As visitors arrive, the children greet them politely and engage confidently in conversation. Caregivers explain that mornings begin with exercise, followed by transportation to school. After lunch and rest, the children take their medication at 3 p.m. and head to the pool for swimming practice. Each child exercises for at least 45 minutes daily.

Swimming Against the Odds

To those unfamiliar with the center, it may seem unbelievable that children with brittle bone disease not only swim but excel at it. Most of the children have gained confidence and no longer fear water—a stark contrast to their initial apprehension.

One such success story is Dang Thanh Tien, who came to the center 12 years ago after being featured in a newspaper article. His family, including three members with brittle bone disease, lived in Dak Lak and relied on selling lottery tickets to survive (one of the lowest-paying jobs in the country, sellers earn only about 4 cents per ticket sold.). Tien had endured countless fractures, many of which healed improperly, leaving his legs twisted. After arriving in Ho Chi Minh City, he underwent surgery to straighten his legs and began physical therapy. At 15, he started first grade. Today, at 27, Tiến is studying to become a dental technician and volunteers at the center every weekend to assist younger patients with physical therapy.

“Before coming here, I couldn’t remember how many times my bones had broken,” Tien recalls. “Now, I haven’t had any fractures in years. I can walk steadily, swim, and even do push-ups. Most importantly, I’ve integrated into society, learned to read, and acquired skills to support myself.”

Other Success Stories

The center has also transformed the lives of others, such as Le Thi Xuan Quyen and her mother, Nguyen Thi Thanh Truc, who began treatment here in 2010. Quyen, now 24, no longer experiences fractures, rides a motorbike to college, and is completing an internship at a pharmacy. Once a shy, fragile girl, she has blossomed into a confident young woman pursuing a career in pharmaceuticals.

Similarly, Hoang Dinh Hanh, who arrived in 2011 unable to walk due to severely deformed limbs, recently graduated from an IT program at a local college. He now drives himself to work and enjoys stable health.

The Science Behind the Success

Over the past 13 years, the Diamond Bone Program, utilizing the Diamond Bone Therapy, has treated over 250 children with remarkable results. More than 90% of patients experience reduced fractures, and many take their first steps after years of immobility. The therapy follows the 4 principles: Medication, Training, Spirit, and Nutrition.

A key component of the treatment is a medicine derived from farm-raised crocodile bone extract, rich in collagen, which helps strengthen bones. This approach was pioneered by Dr. Tran Van Nam, former deputy director of the Ho Chi Minh City Institute of Traditional Medicine. Research conducted by Professor Nguyen Minh Duc of the University of Medicine and Pharmacy confirmed the medicinal properties of crocodile bone extract, highlighting its potential to treat osteoporosis and joint degeneration in adults as well.

Challenges and Innovations

Running the center is no small feat. Monthly expenses are substantial, yet Mr. Hung perseveres. His ingenuity shines through in practical solutions, such as creating lightweight braces from plastic pipes to replace heavy plaster casts. He also customizes shoes for children with uneven legs and collaborates with local authorities to ensure the children receive education.

To further validate the program, Mr. Hung invested personal funds to invite Professor Glorius, Chair of the U.S. Osteogenesis Imperfecta Scientific Council, to visit and review the center’s methods. Thanks to contributions from dedicated scientists like Professor Nguyen Quang Long and Dr. Luong Dinh Lam, who performed surgeries and organized seminars, the program has achieved significant milestones.

A Vision for the Future

Despite the successes, Mr. Hung harbors concerns about the center’s sustainability. Now in his later years, he wishes to transfer management to the government, believing it will increase accessibility and credibility. “If the center closes, it would be a tremendous loss for future generations,” he says. “This project represents years of scientific research and collaboration.”

Beyond Vietnam, Mr. Hung dreams of global recognition. After reviving his business post-pandemic, he plans to visit the U.S. to promote the program internationally. If recognized by American experts, the therapy could benefit children worldwide.

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