What is the medical management approach for Nail Patella Syndrome (NPS)?

Medical Management of Nail Patella Syndrome (NPS)

Nail Patella Syndrome requires a multidisciplinary approach focusing on early identification, orthopedic management, and monitoring for renal complications to reduce morbidity and improve quality of life.

Clinical Presentation and Diagnosis

• NPS is a rare genetic disorder characterized by pathognomonic signs including dystrophic fingernails, iliac horns, and limb abnormalities, most notably hypoplastic patellae 1
• The classic tetrad of findings includes fingernail abnormalities, hypoplasia of the patellae, radial head dislocation, and prominent iliac horns 2
• Nail abnormalities are present in 100% of patients, with hyponychia being the most frequent finding, and triangular lunulae observed in some cases 3
• Clinical presentation can be subtle with varying severity across generations, making early diagnosis challenging 4
• Additional signs may include mood disorders, Raynaud's phenomenon, and a high hairline 1

Orthopedic Management

Assessment and Monitoring

• Regular orthopedic evaluation is essential as knee involvement is the most common joint manifestation, with aplasia or hypoplasia of the patellae being the most frequent finding 3
• Patients with NPS have increased susceptibility to recurrent patellar subluxations or dislocations due to anatomical abnormalities 1
• Radiographic assessment should include knee x-rays to evaluate patellar development and position 1

Treatment Approach

• For mild presentations, non-operative measures should be initiated first 2
• Surgical intervention may be required for more severe cases, with options including:
  • Medial patellofemoral ligament reconstruction
  • Tibial tuberosity transposition
  • Patellofemoral arthroplasty
  • Total knee arthroplasty in advanced cases 2
• Early recognition and preventive measures may reduce the need for surgical intervention 1

Renal Monitoring and Management

• Some patients with NPS develop nephropathy, ranging from mild proteinuria to end-stage renal disease 5
• Regular renal function assessment is necessary, including monitoring of proteinuria and serum creatinine 5
• Renal biopsy may show mesangial proliferative glomerulonephritis in affected patients 5
• Long-term follow-up is essential as renal function can remain stable or progress to advanced renal failure 5

Multidisciplinary Care Approach

• A multispecialty care team approach is recommended to address the various manifestations of NPS 6
• Team should include orthopedic specialists, nephrologists, dermatologists, and geneticists based on individual patient needs 5, 3
• Coordination of care is particularly important to avoid duplication and ensure comprehensive management 6
• Longitudinal follow-up with periodic clinical evaluation is essential to monitor disease progression and complications 6

Preventive Measures

• Early identification of NPS through recognition of characteristic signs may prevent complications 1
• Proactive measures to lessen recurrent patellar subluxations or dislocations can help preserve patellar integrity 1
• Patient and family education about the condition and its potential complications is crucial for long-term management 3
• Genetic counseling should be offered to affected families as NPS follows an autosomal dominant inheritance pattern 4, 5

Special Considerations

• The clinical presentation of NPS can vary widely in severity, even within the same family 4
• Treatment should be tailored based on the specific manifestations and severity of symptoms 2
• Patients should be monitored throughout their lifetime as complications can develop years after initial diagnosis 5