ICD-10: E83.31

Familial hypophosphatemia, classified under ICD-10-CM code E83.31, is a rare genetic disorder characterized by low levels of phosphate in the blood, leading to various skeletal abnormalities and other health issues. This condition is primarily caused by mutations in genes responsible for phosphate regulation, particularly those affecting renal phosphate transport.

Clinical Description

Pathophysiology

Familial hypophosphatemia is often linked to a defect in the renal tubular reabsorption of phosphate, which results in phosphate wasting in the urine. This condition can lead to hypophosphatemia, a state of low phosphate levels in the blood, which is crucial for bone mineralization and overall cellular function. The most common form of this disorder is X-linked hypophosphatemia (XLH), caused by mutations in the PHEX gene, but there are also autosomal dominant and recessive forms associated with different genetic mutations.

Symptoms

Patients with familial hypophosphatemia may present with a variety of symptoms, including:
- Rickets: A condition characterized by softening and weakening of bones in children, leading to deformities.
- Osteomalacia: Similar to rickets but occurring in adults, resulting in bone pain and increased fracture risk.
- Growth retardation: Children may experience delayed growth and development due to impaired bone mineralization.
- Dental issues: Enamel hypoplasia and other dental abnormalities are common due to the impact of phosphate deficiency on dental health.

Diagnosis

Diagnosis typically involves:
- Clinical evaluation: Assessment of symptoms and family history.
- Laboratory tests: Blood tests showing low phosphate levels, elevated alkaline phosphatase, and normal calcium levels. Urine tests may reveal increased phosphate excretion.
- Genetic testing: Identification of mutations in relevant genes can confirm the diagnosis.

Management and Treatment

Treatment Options

Management of familial hypophosphatemia focuses on correcting phosphate levels and managing symptoms. Treatment options include:
- Phosphate supplements: Oral phosphate supplements can help increase serum phosphate levels.
- Active vitamin D analogs: Medications such as calcitriol are often prescribed to enhance intestinal absorption of phosphate and calcium.
- Monitoring: Regular follow-up with healthcare providers to monitor phosphate levels and adjust treatment as necessary.

Prognosis

With appropriate management, individuals with familial hypophosphatemia can lead relatively normal lives, although they may be at increased risk for bone-related complications. Early diagnosis and intervention are crucial for improving outcomes and minimizing skeletal deformities.

Conclusion

Familial hypophosphatemia (ICD-10 code E83.31) is a significant metabolic disorder that requires careful clinical management. Understanding its pathophysiology, symptoms, and treatment options is essential for healthcare providers to offer effective care and support to affected individuals. Regular monitoring and a multidisciplinary approach can help mitigate the long-term effects of this condition, ensuring better quality of life for patients.

Familial hypophosphatemia, classified under ICD-10-CM code E83.31, is a genetic disorder characterized by low levels of phosphate in the blood, leading to various clinical manifestations. This condition primarily affects bone health and mineral metabolism, resulting in a range of symptoms and signs that can significantly impact patients' quality of life. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with familial hypophosphatemia.

Clinical Presentation

Familial hypophosphatemia is often identified in childhood, although symptoms can vary widely among individuals. The condition is typically inherited in an X-linked manner, particularly in the most common form known as X-linked hypophosphatemia (XLH). The clinical presentation may include:

• Skeletal Abnormalities: Patients often exhibit rickets or osteomalacia, which are conditions characterized by softening of the bones due to inadequate mineralization. This can lead to deformities such as bowing of the legs, short stature, and dental issues.
• Growth Delays: Children with familial hypophosphatemia may experience delayed growth and development, which can be attributed to the effects of low phosphate levels on bone growth.

Signs and Symptoms

The signs and symptoms of familial hypophosphatemia can be diverse and may include:

• Bone Pain and Tenderness: Patients frequently report discomfort in the bones, particularly in the lower extremities.
• Fractures: Increased susceptibility to fractures due to weakened bones is common, even with minimal trauma.
• Muscle Weakness: Some individuals may experience muscle weakness, which can affect mobility and overall physical function.
• Dental Problems: Dental issues, including abscesses and enamel hypoplasia, are prevalent due to the impact of phosphate deficiency on dental health.
• Joint Pain: Patients may also experience joint pain, which can be exacerbated by physical activity.

Patient Characteristics

Familial hypophosphatemia can affect individuals of any age, but certain characteristics are more commonly observed:

• Age of Onset: Symptoms often manifest in early childhood, typically before the age of 5, although some cases may not be diagnosed until later in life.
• Gender: The X-linked form predominantly affects males, while females can be carriers and may exhibit milder symptoms.
• Family History: A positive family history of similar symptoms or diagnosed cases of hypophosphatemia is often present, indicating the hereditary nature of the condition.

Conclusion

Familial hypophosphatemia is a complex disorder with significant implications for bone health and overall well-being. Early recognition of the clinical signs and symptoms is crucial for effective management and treatment. Patients may benefit from multidisciplinary care, including endocrinologists, orthopedic specialists, and dental professionals, to address the various aspects of the condition. Understanding the patient characteristics and clinical presentation can aid in timely diagnosis and intervention, ultimately improving patient outcomes.

Familial hypophosphatemia, classified under the ICD-10-CM code E83.31, is a genetic disorder characterized by low levels of phosphate in the blood, leading to various skeletal abnormalities and other health issues. Understanding alternative names and related terms for this condition can enhance clarity in medical documentation and communication. Below are some of the key alternative names and related terms associated with familial hypophosphatemia.

Alternative Names

1. X-Linked Hypophosphatemia (XLH): This is the most common form of familial hypophosphatemia, which is inherited in an X-linked manner. It is often referred to simply as XLH.

2. Hereditary Hypophosphatemic Rickets: This term emphasizes the rickets-like symptoms that can arise from the condition, particularly in children.

3. Vitamin D Resistant Rickets: This name reflects the condition's resistance to treatment with vitamin D, which is typically effective in treating other forms of rickets.

4. Familial Rickets: A broader term that can encompass various hereditary forms of rickets, including familial hypophosphatemia.

5. Hypophosphatemic Rickets: This term is used to describe rickets caused by low phosphate levels, which can include familial hypophosphatemia.

Related Terms

1. Phosphate Metabolism Disorders: Familial hypophosphatemia falls under this category, which includes various conditions affecting phosphate levels in the body.

2. Rickets: A general term for a condition characterized by weak or soft bones in children, which can be caused by various factors, including vitamin D deficiency and phosphate metabolism disorders.

3. Osteomalacia: While primarily associated with adults, this term refers to the softening of bones due to vitamin D deficiency or phosphate issues, which can be related to familial hypophosphatemia.

4. Renal Phosphate Wasting: This term describes the kidneys' inability to retain phosphate, a hallmark of familial hypophosphatemia.

5. Genetic Rickets: A term that encompasses various hereditary forms of rickets, including familial hypophosphatemia.

Understanding these alternative names and related terms is crucial for healthcare professionals when diagnosing, coding, and discussing familial hypophosphatemia. This knowledge aids in ensuring accurate communication and effective treatment planning for affected individuals.

Familial hypophosphatemia, classified under ICD-10 code E83.31, is a genetic disorder characterized by low phosphate levels in the blood, leading to various skeletal abnormalities. The diagnosis of familial hypophosphatemia involves several criteria, which can be categorized into clinical, biochemical, and genetic assessments.

Clinical Criteria

1. Symptoms: Patients often present with symptoms such as:
   - Bone pain or tenderness
   - Fractures or skeletal deformities (e.g., bowing of the legs)
   - Growth retardation in children
   - Dental issues, including dental abscesses and delayed eruption of teeth

2. Family History: A positive family history of similar symptoms or confirmed cases of familial hypophosphatemia can support the diagnosis, as the condition is inherited in an X-linked dominant pattern.

Biochemical Criteria

1. Serum Phosphate Levels: A key diagnostic criterion is the measurement of serum phosphate levels, which are typically low (hypophosphatemia) in affected individuals.

2. Serum Calcium and Parathyroid Hormone (PTH) Levels:
   - Serum calcium levels are usually normal.
   - PTH levels may be elevated due to the low phosphate levels, as the body attempts to compensate.

3. Phosphate Excretion: Urinary phosphate excretion may be inappropriately high despite low serum phosphate levels, indicating a renal phosphate wasting condition.

Genetic Testing

1. Genetic Mutations: Confirmation of the diagnosis can be achieved through genetic testing to identify mutations in the PHEX gene, which is commonly associated with familial hypophosphatemia. This gene is responsible for phosphate regulation in the body.

2. Other Genetic Factors: In some cases, mutations in other genes (such as FGF23) may also be implicated, particularly in different forms of hypophosphatemia.

Differential Diagnosis

It is essential to differentiate familial hypophosphatemia from other conditions that can cause hypophosphatemia, such as:
- Tumor-induced osteomalacia
- Vitamin D deficiency
- Renal tubular disorders

Conclusion

The diagnosis of familial hypophosphatemia (ICD-10 code E83.31) is based on a combination of clinical symptoms, biochemical tests showing low serum phosphate levels, and genetic testing for specific mutations. A thorough evaluation is crucial to ensure accurate diagnosis and appropriate management of the condition. If you suspect familial hypophosphatemia, consulting with a healthcare professional specializing in metabolic bone diseases is recommended for further assessment and potential treatment options.

Familial hypophosphatemia, classified under ICD-10 code E83.31, is a genetic disorder characterized by low phosphate levels in the blood, leading to rickets or osteomalacia. The condition is primarily caused by mutations affecting phosphate regulation, often linked to X-linked hypophosphatemia (XLH). The treatment approaches for this condition focus on managing symptoms, correcting phosphate levels, and promoting bone health.

Treatment Approaches

1. Phosphate Supplementation

Phosphate supplementation is a cornerstone of treatment for familial hypophosphatemia. Patients are typically prescribed oral phosphate supplements to help increase serum phosphate levels. The dosage may vary based on the severity of the condition and the patient's age. Regular monitoring of serum phosphate levels is essential to adjust the dosage accordingly and avoid potential side effects, such as hyperphosphatemia.

2. Active Vitamin D Metabolites

In conjunction with phosphate supplementation, active forms of vitamin D, such as calcitriol, are often administered. These metabolites enhance intestinal absorption of phosphate and calcium, which is crucial for bone mineralization. The combination of phosphate and vitamin D therapy aims to improve bone health and reduce the risk of rickets and associated deformities.

3. Monitoring and Management of Bone Health

Regular monitoring of bone health is vital for patients with familial hypophosphatemia. This includes periodic assessments through X-rays and bone density scans to evaluate the effectiveness of treatment and detect any potential complications early. Orthopedic interventions may be necessary for patients who develop significant bone deformities due to the condition.

4. Surgical Interventions

In cases where conservative management fails to correct bone deformities or if there is significant functional impairment, surgical options may be considered. Procedures such as osteotomy can help realign bones and improve function. Surgical intervention is typically reserved for severe cases where conservative measures are insufficient.

5. Genetic Counseling

Given the hereditary nature of familial hypophosphatemia, genetic counseling is recommended for affected families. This can provide valuable information regarding the inheritance patterns, risks for future offspring, and implications for family members.

6. Emerging Therapies

Research is ongoing into new treatment modalities, including the use of burosumab, a monoclonal antibody that inhibits fibroblast growth factor 23 (FGF23). This therapy has shown promise in clinical trials for improving phosphate levels and bone health in patients with XLH, representing a potential advancement in the management of familial hypophosphatemia.

Conclusion

The management of familial hypophosphatemia requires a comprehensive approach that includes phosphate supplementation, active vitamin D metabolites, and regular monitoring of bone health. Surgical interventions may be necessary for severe cases, and genetic counseling plays a crucial role in patient management. As research progresses, new therapies like burosumab may offer additional options for improving outcomes in affected individuals. Regular follow-up with healthcare providers is essential to tailor treatment plans to individual needs and ensure optimal management of this condition.