Osteogenesis imperfecta
Description
● Introduction: The patient, a 24-year-old lady, complained of low back discomfort during water tubing.The past
• Family history: osteoporosis in the father and sister;
• Previous childhood fractures (digital fractures, Colle's fracture);
• Normal menstruation, adequate calcium intake, and abstinence from alcohol and smoke
➣Analysis:
•Blue-gray sclera, paralumbar discomfort, and scoliosis
• Mid-peak ejection murmur
• Other than that, standard systems
➣ Research:
•Imaging demonstrates that L1 has a compression fracture.
•Severe osteoporosis was confirmed by DEXA.
• Secondary factors are excluded.
•A genetics consultation, PFT, echocardiography, and audiogram were performed.
• The diagnosis is type IA OI, which is the mildest kind.
➣Medication:
• Calcium and vitamin D
• The topic of bisphosphonates is covered.
•Lifestyle changes, family screening, and close observation were planned.
• Vital Subjects for Conversation
• Aetiology and Pathophysiology
➣ Cause:
• Mutations in type I collagen genes result in reduced or abnormal collagen.
The two forms of inheritance include sporadic mutations and autosomal dominant mutations.
Types of OI
•There are seven types that vary in severity, age of onset, and clinical features.
➣kind IA: The mildest and most prevalent kind.
Characteristics of Type IA OI Clinically: Blue-gray sclera; frequent fractures with minor trauma; sensorineural hearing loss; skeletal abnormalities, including scoliosis and limb deformities
Aortic root dilatation and inadequate aortic/mitral valves raise the risk of dissection in the heart; neurological conditions include cervical cord compression and basilar invagination; pulmonary conditions include rib or spine deformities that result in restrictive lung disease; and other conditions include vascular fragility, nephrolithiasis, and hypermetabolism.
●Nature's History
•The risk of fractures continues to rise with age, childbirth, and inactivity. It peaks throughout childhood and declines after puberty.
•Pregnancy and breastfeeding are high-risk times for fractures.
➣Diagnosis:
•The primary foundation for diagnosis is low BMD in conjunction with clinical and family history.
• Advanced tests, which are seldom used:
Type I procollagen peptide levels; bone biopsies; collagen analysis in fibroblast culture; genetic testing (verification of DNA mutations); and the possibility of prenatal diagnosis.
Protocol
•Management:
Lifestyle Measures: Orthotics, physiotherapy, fall prevention
•Pharmacologic:
Bisphosphonates: Increase bone mass, reduce fracture risk
Calcium & Vitamin D supplementation
Long-term safety in women of childbearing age uncertain
•Surgical:
Intramedullary rods for long bones
Basilar invagination correction
Scoliosis surgery
•Monitoring:
Echocardiography, audiometry, lung function testing, genetic counseling
Frequent fractures after minor trauma, decreased mobility, persistent discomfort, and the possibility of skeletal deformity are all examples of recurrent fractures and bone fragility issues.
•Administration:
Fractures should be stabilized as away, ideally with little immobility to avoid deconditioning.
Orthotics, such as braces or splints, are used to support weak bones and stop more injuries.
Orthopedic surgical procedures for severe or recurring long bone fractures, such as the insertion of an intramedullary rod.
Although long-term safety in moderate OI and during reproductive years is still being studied, the start of bisphosphonate medication (e.g., pamidronate) has been demonstrated to increase bone mass, reduce fracture risk, and alleviate symptoms.
Supplementing with calcium and vitamin D will provide the best possible bone health.
•Interventions in Nursing:
To avoid more fractures, handle and transfer the patient gently.
Teach the patient and their family safe mobility and transfer practices as well as injury prevention tactics.
arranging for physical therapy and orthopedic consultations as required.
Chronic Pain and Functional Limitations Issues: Persistent discomfort, decreased capacity for activities, and compromised self-care.
•Administration:
Acetaminophen and cautious short-term NSAIDs are used in multimodal pain therapy that is customized to each patient's risk/benefit profile.
Physical treatment to keep joints healthy, muscles strong, and contractures at bay without running the danger of more fractures.
ambulation and daily life tasks with adaptive equipment.
•Interventions in Nursing:
Frequent evaluation of pain and timely application of pain management techniques.
Encourage and support mobility and exercise under supervision.
Provide emotional support and look for indications of depression or chronic disability frustration.
Risk of Osteoporosis Progression and Systemic Complications
Problems: Accelerated reduction in bone mineral density with age, pregnancy, and inactivity; risk for cardiac, pulmonary, auditory, and neurological complications.
•Management:
Baseline and regular follow-up bone mineral density (DEXA) scans.
Screening for complications (e.g., echocardiogram for cardiac valve disorders, pulmonary function tests, audiogram for hearing loss).
Lifestyle counseling including smoking and alcohol avoidance, healthy diet, and safe exercise.
Referral for genetic counseling and screening of family members.
•Nursing Interventions:
Monitor for symptoms of systemic complications (e.g., new murmurs, respiratory distress, hearing loss).
Educate on the importance of ongoing surveillance and healthy lifestyle choices.
Risk of Systemic Complications and Osteoporosis Progression
•Administration:
bone mineral density (DEXA) scans at baseline and at regular intervals.
checking for problems (e.g., audiogram for hearing loss, pulmonary function tests, echocardiogram for heart valve issues).
Healthy eating, safe exercise, and abstaining from alcohol and tobacco are all part of lifestyle coaching.
referral for family member screening and genetic counseling.
•Interventions in Nursing:
Keep an eye out for signs of systemic problems, such as hearing loss, respiratory difficulty, or new murmurs.
Emphasize the value of continuous monitoring and leading a healthy lifestyle.
Issues with Psychosocial and Educational Support: Fear of harm, possible social exclusion, and possibility of incorrect
diagnosis (e.g., child abuse).
•Administration:
thorough counseling regarding the nature, prognosis, and heredity of OI for patients and their families.
encouragement of engagement in modified, age-appropriate physical activity.
lobbying for a safe atmosphere and appropriate accommodations in businesses and schools.
Make educational materials available in print and digital formats.
•Interventions in Nursing:
Make community resources and support groups more accessible.
Provide counseling to address family dynamics and emotional consequences.
Serve as a communication point for the multidisciplinary team.
Problems with Complication Prevention: Unnecessary procedures and unidentified complications pose a serious risk of
morbidity.
•Administration:
preventative medical or surgical measures in patients who are susceptible to potentially fatal consequences (e.g., corrective spinal surgery for severe scoliosis).
As the patient ages, becomes pregnant, or experiences new symptoms, the care plan is continuously reviewed and
adjusted.
•Interventions in Nursing:
Keep a close eye on women with OI at high-risk times, such as the third trimester of pregnancy and lactation.
Inform patients about specific times when they are at risk for fractures and other issues.
Notes
For more information visit: https://pmc.ncbi.nlm.nih.gov/articles/PMC1479493/