GeneHealth - Your precision medicine

Legg-calve-perthes Disease

Disease Details

Family Health Simplified

Buy Membership

Description: Legg-Calve-Perthes disease is a childhood condition characterized by a temporary loss of blood supply to the femoral head, causing the bone to become weak and fracture easily.
Type: Legg-Calve-Perthes disease is not typically inherited in a specific genetic pattern. Most cases are sporadic, meaning they occur by chance without a clear genetic link. However, there may be some genetic predisposition, as the condition can sometimes run in families, suggesting a possible multifactorial inheritance involving multiple genetic and environmental factors.
Signs And Symptoms: The condition is most commonly found in children between the ages of 4 and 10. Common symptoms include pain in the hip, knee, or ankle (since hip pathology can cause pain to be felt in a normal knee or ankle), or in the groin; this pain is exacerbated by hip or leg movement, especially internal hip rotation (with the knee flexed 90°, twisting the lower leg away from the center of the body). The range of motion is reduced, particularly in abduction and internal rotation, and the patient presents with a limp. Pain is usually mild. Atrophy of thigh muscles may occur from disuse and an inequality of leg length. In some cases, some activity can cause severe irritation or inflammation of the damaged area, including standing, walking, running, kneeling, or stooping repeatedly for an extended period of time. In cases exhibiting severe femoral osteonecrosis, pain is usually a chronic, throbbing sensation exacerbated by activityThe first signs are complaints of soreness from the child, which are often dismissed as growing pains, and limping or other guarding of the joint, particularly when tired. The pain is usually in the hip, but can also be felt in the knee (referred pain). In some cases, pain is felt in the unaffected hip and leg, due to the children favoring their injured side and placing the majority of their weight on their "good" leg. It is predominantly a disease of boys (4:1 ratio). Perthes is generally diagnosed between 5 and 12 years of age, although it has been diagnosed as early as 18 months. Typically, the disease is only seen in one hip, but bilateral Perthes is seen in about 10% of children diagnosed.
Prognosis: Children younger than six have the best prognosis, since they have time for the dead bone to revascularize and remodel, with a good chance that the femoral head will recover and remain spherical after resolution of the disease. Children who have been diagnosed with Perthes' disease after the age of ten are at a very high risk of developing osteoarthritis and coxa magna. When an LCP disease diagnosis occurs after age eight, a better outcome results with surgery rather than nonoperative treatments. Shape of femoral head at the time when Legg-Calvé Perthes disease heals is the most important determinant of risk for degenerative arthritis; hence, the shape of femoral head and congruence of hip are most useful outcome measures.
Onset: Legg-Calvé-Perthes disease typically has an onset in childhood, most commonly affecting children between the ages of 4 and 8 years old. It is more common in boys than in girls.
Prevalence: The prevalence of Legg-Calve-Perthes disease varies but is estimated to be about 1 in 10,000 to 1 in 12,000 children.
Epidemiology: Perthes' disease is one of the most common hip disorders in young children, occurring in roughly 5.5 of 100,000 children per year. The lifetime risk of a child developing the disease is about one per 1,200 individuals. Boys are affected about three to five times more often than girls. New cases of Perthes' disease rarely occur after age 14 years (if diagnosed after 14 years of age, then it is usually old disease from early in childhood or avascular necrosis from an alternative cause).
White northern Europeans appear to be affected more frequently than other ethnicities, though a paucity of reliable epidemiology exists in the Southern Hemisphere. Children of those with the disease themselves may have a very slightly increased risk, though it is unclear if this is because of a genetic predisposition, or a shared environmental factor. It is most commonly seen in persons aged three to twelve years, with a median of six years of age. The UK incidence rates show an intriguing pattern with low incidence rates in London, and a progressive increase in disease in more northerly areas (maximal in Scotland). Some evidence suggests, at least in developed countries, more socioeconomically deprived communities have a greater risk of disease (a similar trend to diseases such as adult heart disease), though the reason for this remains unknown. One possible explanation that has been considered is tobacco smoke exposure, though this is significantly confounded by the strong socioeconomic gradient common to both smoking and Perthes' disease.
Intractability: Legg-Calvé-Perthes disease is generally not considered intractable. While it is a complex condition involving avascular necrosis of the femoral head in children, most patients can achieve good outcomes with proper treatment. Treatment may include physical therapy, bracing, or surgery, and the prognosis varies depending on factors such as the age of onset and severity. Early diagnosis and intervention are crucial for optimal results.
Disease Severity: Legg-Calve-Perthes disease severity can vary. It is classified based on the extent of femoral head involvement and deformation. Some common classification systems include:

1. **Catterall Classification:**
- Group I: Minimal involvement.
- Group II: More extensive necrosis but less than half the head.
- Group III: More than half the head involved with collapse.
- Group IV: The entirety of the femoral head is affected.

2. **Herring Classification:**
- Group A: Minimal lateral pillar involvement.
- Group B: Less than 50% lateral pillar involvement.
- Group C: More than 50% lateral pillar involvement with significant collapse.

Severity impacts long-term outcomes and the type of treatment required. Early diagnosis and management are crucial for better prognosis.
Healthcare Professionals: Disease Ontology ID - DOID:14415
Pathophysiology: Legg-Calvé-Perthes disease is a childhood condition affecting the hip, where the blood supply to the femoral head (the ball part of the hip joint) is temporarily interrupted. This loss of blood flow causes the bone to die, leading to avascular necrosis. As a result, the femoral head becomes weakened and may break apart and lose its round shape. Over time, the blood supply returns, and the bone begins to grow back. However, the regrowth process is often slow and the femoral head may not return to its normal shape, leading to potential long-term complications in the hip joint. This condition usually affects children between ages 4 and 10 and is more common in boys.
Carrier Status: Legg-Calvé-Perthes disease is not typically associated with a carrier status as it is not a hereditary condition in the traditional sense of being passed from parent to child through specific genetic mutations. It is an idiopathic avascular necrosis of the femoral head, primarily affecting children. The exact cause is unknown, but it is believed to result from temporary loss of blood supply to the femoral head, leading to bone necrosis and subsequent regeneration over time.
Mechanism: Legg-Calvé-Perthes disease is a childhood hip disorder characterized by avascular necrosis of the femoral head.

**Mechanism:**
The precise cause is unknown, but it is believed to involve a temporary disruption of blood supply to the femoral head. This ischemia leads to the death of bone cells in the epiphysis (the rounded end of the femoral head), resulting in structural weakening and potential collapse of the bone.

**Molecular Mechanisms:**
The specific molecular mechanisms underlying Legg-Calvé-Perthes disease are not fully understood, but several factors may be involved:

1. **Vascular Factors:** Abnormalities in blood vessel structure or function could lead to impaired blood flow to the femoral head.
2. **Genetic Factors:** There may be a genetic predisposition, as some gene mutations affecting blood coagulation and vascular development (such as those involving COL2A1 or FV Leiden) have been implicated.
3. **Inflammatory Factors:** Localized inflammation could contribute to vascular occlusion and subsequent necrosis.
4. **Mechanical Stress:** Repeated microtrauma and biomechanical stress might exacerbate the vascular insufficiency in the femoral head.

Further research is needed to elucidate the complex interplay of these factors in Legg-Calvé-Perthes disease.
Treatment: The goals of treatment are to decrease pain, reduce the loss of hip motion, and prevent or minimize permanent femoral head deformity so that the risk of developing a severe degenerative arthritis as an adult can be reduced. Assessment by a pediatric orthopaedic surgeon is recommended to evaluate risks and treatment options. Younger children have a better prognosis than older children.Treatment has historically centered on removing mechanical pressure from the joint until the disease has run its course. Options include traction (to separate the femur from the pelvis and reduce wear), braces (often for several months, with an average of 18 months) to restore range of motion, physiotherapy, and surgical intervention when necessary because of permanent joint damage. To maintain activities of daily living, custom orthotics may be used. Overnight traction may be used in lieu of walking devices or in combination. These devices internally rotate the femoral head and abduct the leg(s) at 45°. Orthoses can start as proximal as the lumbar spine, and extend the length of the limbs to the floor. Most functional bracing is achieved using a waist belt and thigh cuffs derived from the Scottish-Rite orthosis. These devices are typically prescribed by a physician and implemented by an orthotist. Clinical results of the Scottish Rite orthosis have not been good according to some studies, and its use has gone out of favor. Many children, especially those with the onset of the disease before age 6, need no intervention at all and are simply asked to refrain from contact sports or games which impact the hip. For older children (onset of Perthes after age 6), the best treatment option remains unclear. Current treatment options for older children over age 8 include prolonged periods without weight bearing, osteotomy (femoral, pelvic, or shelf), and the hip distraction method using an external fixator which relieves the hip from carrying the body's weight. This allows room for the top of the femur to regrow.While running and high-impact sports are not recommended during treatment for Perthes disease, children can remain active through a variety of other activities that limit mechanical stress on the hip joint. Swimming is highly recommended, as it allows exercise of the hip muscles with full range of motion while reducing the stress to a minimum. Cycling is another good option as it also keeps stress to a minimum. Physiotherapy generally involves a series of daily exercises, with weekly meetings with a physiotherapist to monitor progress. These exercises focus on improving and maintaining a full range of motion of the femur within the hip socket. Performing these exercises during the healing process is essential to ensure that the femur and hip socket have a perfectly smooth interface. This will minimize the long-term effects of the disease. Use of bisphosphonate such as zoledronate or ibandronate is currently being investigated, but definite recommendations are not yet available.Perthes disease is self-limiting, but if the head of femur is left deformed, long-term problems can occur. Treatment is aimed at minimizing damage while the disease runs its course, not at 'curing' the disease. It is recommended not to use steroids or alcohol as these reduce oxygen in the blood which is needed in the joint. As those affected age, problems in the knee and back can arise secondary to abnormal posture and stride adopted to protect the affected joint. The condition is also linked to arthritis of the hip, though this appears not to be an inevitable consequence. Hip replacements are relatively common as the already damaged hip experiences routine wear; this varies by individual, but generally is required any time after age 50.
Compassionate Use Treatment: Legg-Calvé-Perthes disease primarily affects children and involves the disruption of blood flow to the femoral head, leading to bone necrosis. Treatments focus on preserving hip function and alleviating pain. Compassionate use treatments and off-label or experimental therapies might include:

1. **Bisphosphonates**: These drugs, typically used for osteoporosis, might be employed to reduce bone resorption and improve bone healing.
2. **Growth Factors**: Experimental use of growth factors such as BMPs (Bone Morphogenetic Proteins) may help in bone healing and regeneration.
3. **Hyperbaric Oxygen Therapy**: This involves breathing pure oxygen in a pressurized room, potentially promoting healing by increasing oxygen supply to affected tissues.
4. **Stem Cell Therapy**: Early-stage trials are exploring whether stem cell injections can foster new bone growth and repair damaged tissues.
5. **Orthobiologics**: These are substances used to help injuries heal more quickly, including platelet-rich plasma (PRP) injections.

These treatments are typically part of clinical trials or compassionate use programs and should be discussed with healthcare providers for their risks and benefits.
Lifestyle Recommendations: For Legg-Calve-Perthes disease, lifestyle recommendations generally focus on preserving hip joint function and reducing pain. They include:

1. **Weight Management:** Maintaining a healthy weight to reduce stress on the hip joint.
2. **Low-Impact Activities:** Engaging in activities like swimming or cycling that do not put excessive stress on the hip.
3. **Limiting High-Impact Sports:** Avoiding sports that involve running or jumping, which can exacerbate the condition.
4. **Physical Therapy:** Regular exercises to maintain hip range of motion and muscle strength.
5. **Assistive Devices:** Using crutches or a cane to reduce weight-bearing on the affected hip during flare-ups.
6. **Frequent Rest:** Taking breaks throughout the day to avoid overexertion of the hip joint.
7. **Follow Medical Advice:** Regular follow-ups with healthcare providers to monitor the condition and adhering to prescribed treatments, including possible surgical interventions if necessary.
Medication: Legg-Calvé-Perthes disease primarily focuses on non-surgical management and symptom control. Medication is generally used to manage pain and inflammation and may include:

1. **Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)** such as ibuprofen or naproxen to ease pain and reduce inflammation.
2. **Analgesics** like acetaminophen for pain relief if NSAIDs are not suitable.

It's important to follow the guidance of a healthcare professional to determine the appropriate medication and dosage for any individual case.
Repurposable Drugs: There are currently no widely recognized repurposable drugs specifically for the treatment of Legg-Calve-Perthes disease. Management primarily focuses on pain relief (e.g., NSAIDs), physical therapy, and in some cases, surgical intervention to maintain hip function and proper joint alignment.
Metabolites: Legg-Calvé-Perthes disease (LCPD) primarily involves the hip joint in children, caused by a disruption of blood flow to the femoral head leading to avascular necrosis. Specific metabolite abnormalities directly associated with LCPD are not well-documented in the literature. Research in this area is relatively sparse, and no specific metabolomic profile has been definitively linked to the disease. However, understanding of this aspect may evolve with advancing research.

If you are looking for more detailed information on biology or treatment approaches related to LCPD, please provide additional context.
Nutraceuticals: There is limited scientific evidence to support the efficacy of nutraceuticals specifically for treating Legg-Calvé-Perthes disease. The primary management approach typically involves physical therapy, pain management, and in some cases, surgical intervention to ensure proper hip joint development. Consultation with a healthcare professional for appropriate treatment options is recommended.
Peptides: Legg-Calvé-Perthes disease does not have a well-established link to specific peptides or nanotechnology in its standard treatment protocols. It is a childhood condition that affects the hip joint, leading to a temporary loss of blood supply to the femoral head. Treatment usually focuses on improving joint function and may include physical therapy, bracing, and sometimes surgery.