What is Rickets? Definition, Causes & Treatments

Rickets is a skeletal disorder that is characterized by soft, weak bones in children, potentially leading to bone deformities and growth disturbances.

The condition is most commonly caused by a prolonged deficiency of vitamin D, which is essential for the absorption of calcium and phosphorus—minerals critical for healthy bone formation and maintenance.

Historically, rickets was first identified in the 17th century and became a significant health issue during the Industrial Revolution, particularly in urban areas with limited sunlight exposure.

Despite being largely preventable, the disease has not been completely eradicated, especially in developing countries and in cases of dietary restrictions or genetic predispositions.

Etiology of Rickets

The etiology of rickets is multifaceted, with several factors contributing to its development. Primarily, the disease is associated with deficiencies in essential nutrients that are crucial for bone health and development. Here’s an expanded view of the causes:

• Vitamin D Deficiency: This is the most common cause of rickets. Vitamin D is vital for the regulation of calcium and phosphorus in the body. It is synthesized in the skin through exposure to sunlight and is also obtained from dietary sources. A deficiency can occur due to:
  • Inadequate exposure to sunlight, often due to living in regions with limited sunlight or cultural practices that limit skin exposure.
  • Poor dietary intake, especially in children with diets lacking in vitamin D-rich foods such as fatty fish, liver, egg yolks, and fortified dairy products.
  • Malabsorption syndromes, where the body cannot effectively absorb vitamin D from the gastrointestinal tract, as seen in conditions like celiac disease or cystic fibrosis.
• Calcium or Phosphorus Deficiency: Bones require these minerals to maintain their strength and structure. Deficiencies can lead to the softening of bones seen in rickets.
  • Calcium is found in dairy products, leafy greens, and fortified foods, and a lack of these in the diet can lead to deficiency.
  • Phosphorus is abundant in the diet but may be lacking due to poor overall nutrition or specific dietary limitations.
• Genetic Causes: Some forms of rickets are inherited and are not due to dietary deficiencies. These include disorders such as:
  • Familial hypophosphatemia, which affects the renal handling of phosphorus.
  • Hereditary defects in vitamin D metabolism, such as vitamin D-dependent rickets (VDDR), which can affect the body’s ability to synthesize the active form of vitamin D.
• Drug-Induced Rickets: Certain medications can interfere with the body’s ability to metabolize or absorb vitamin D and other bone-healthy nutrients. These include:
  • Anticonvulsants, which are known to affect vitamin D metabolism.
  • Antiretroviral drugs, which can affect calcium and phosphorus balance.

Understanding the etiology of rickets is crucial for prevention and treatment. While vitamin D deficiency is the leading cause, it is important to consider all potential factors, including dietary habits, sun exposure, genetic predisposition, and the impact of certain medications. Addressing these factors can help prevent the development of rickets and ensure healthy bone growth in children.

Pathophysiology of Rickets

Rickets primarily affects the growing bones of children, where the process of bone mineralization is disrupted. The pathophysiology of rickets is complex, involving an interplay of nutritional deficiencies and hormonal imbalances that lead to a series of bone growth abnormalities. Here’s a detailed look at the process:

• Bone Formation and Growth: Normal bone growth requires a matrix of collagen fibers, called osteoid, to be laid down by cells known as osteoblasts. This osteoid then needs to be mineralized with calcium and phosphorus to form hard, strong bone. In rickets, this mineralization process is defective, leading to an accumulation of unmineralized osteoid.
• Role of Calcium and Phosphorus: These two minerals are critical for hardening the osteoid. Calcium is involved in forming the hydroxyapatite crystals that give bone its rigidity, while phosphorus is a key component of these crystals. A deficiency in either mineral can lead to inadequate bone mineralization.
• Effects of Vitamin D on Bone Health: Vitamin D promotes the intestinal absorption of calcium and phosphorus. It also helps in the renal reabsorption of calcium and phosphorus, ensuring that they are available for bone mineralization. Vitamin D is converted in the liver to 25-hydroxyvitamin D and then in the kidney to its active form, 1,25-dihydroxyvitamin D (calcitriol). Calcitriol binds to vitamin D receptors in various tissues to exert its effects, including increasing intestinal absorption of calcium and phosphorus.
• Disrupted Vitamin D Metabolism: In rickets, the conversion of vitamin D to its active form is often impaired, leading to reduced levels of calcitriol. This can be due to a lack of substrate (if vitamin D is deficient), genetic mutations affecting the enzymes responsible for the conversion, or damage to the kidneys where the conversion takes place.
• Hormonal Regulation: Parathyroid hormone (PTH) is released in response to low calcium levels in the blood. PTH acts to increase blood calcium levels by promoting the conversion of 25-hydroxyvitamin D to calcitriol, increasing calcium reabsorption in the kidneys, and increasing calcium release from bones. In rickets, despite the increase in PTH, the lack of calcitriol and dietary calcium can lead to continued low calcium levels, perpetuating the cycle of poor mineralization.
• Growth Plate Disturbances: The growth plates, or epiphyseal plates, are areas of active bone growth in children. They are particularly sensitive to calcium and phosphorus levels. In rickets, the lack of mineralization leads to an overproduction of unmineralized osteoid, which causes the growth plates to become wider and irregular—leading to the characteristic bone deformities seen in the disease.
• Skeletal Deformities: As a result of the above processes, children with rickets may develop skeletal deformities such as bowed legs or knock knees, thickening of the wrists and ankles, and a protruding breastbone. These deformities are due to the softening of the bone and the weight of the body causing the bone to bend or deform.

The pathophysiology of rickets underscores the importance of adequate nutrition and hormonal balance for proper bone development. Understanding these mechanisms is essential for the effective prevention and treatment of rickets, ensuring that children’s bones grow strong and healthy.

Epidemiology

The epidemiology of rickets provides insight into its distribution, determinants, and control measures. Although largely preventable, rickets remains prevalent in certain parts of the world and among specific populations.

Here’s an expanded examination of its epidemiological aspects:

• Global Distribution: The prevalence of rickets varies globally, with higher rates reported in regions with limited sunlight exposure, such as northern latitudes, and in countries where food is not routinely fortified with vitamin D. In contrast, developed countries have seen a significant decline in rickets incidence due to public health measures and nutritional policies.
• Developed vs. Developing Countries: In developed countries, cases of rickets are often linked to dietary choices or absorption issues, whereas in developing countries, the disease is more commonly associated with poverty, malnutrition, and lack of sun exposure. Urbanization has also played a role, with children in urban environments getting less sun exposure due to buildings blocking sunlight and more time spent indoors.
• Risk Factors: Several risk factors have been identified that increase the likelihood of developing rickets:
  • Skin Pigmentation: Melanin reduces the skin’s ability to produce vitamin D in response to sunlight exposure. Therefore, individuals with darker skin are at a higher risk, especially if they live in regions with less intense sunlight.
  • Exclusive Breastfeeding Without Supplementation: Breast milk typically has low levels of vitamin D. Without supplementation, exclusively breastfed infants, particularly those with minimal sun exposure, are at risk.
  • Malabsorption Syndromes: Conditions that impair the absorption of nutrients, such as celiac disease or cystic fibrosis, can lead to deficiencies in vitamin D, calcium, and phosphorus.
  • Dietary Insufficiencies: Diets lacking in calcium, phosphorus, and vitamin D—such as vegan diets without proper supplementation—can contribute to the development of rickets.
  • Geographical Location: Living at high latitudes or in areas with significant air pollution or cloud cover can reduce UVB exposure, hindering vitamin D synthesis.
  • Cultural Practices: Clothing that covers most of the skin and indoor lifestyles can significantly reduce skin exposure to UVB rays, limiting the body’s ability to produce vitamin D.
• Age and Growth: Rickets most commonly affects children during periods of rapid growth, typically between 6 months and 36 months of age, when the demand for calcium and phosphorus is highest.
• Seasonal Variations: The incidence of rickets tends to be higher in the winter months due to reduced sunlight exposure, which is necessary for the skin to synthesize vitamin D.
• Socioeconomic Status: Lower socioeconomic status is associated with an increased risk of rickets due to factors such as poor nutrition, limited access to health care, and lack of knowledge about the disease.

Understanding the epidemiology of rickets is crucial for developing targeted public health interventions, such as vitamin D fortification of foods, supplementation programs, and education campaigns to raise awareness about the importance of sun exposure and dietary intake of vitamin D and calcium. These measures can help reduce the incidence of rickets and ensure healthy bone development in children.

Clinical Manifestations

The clinical manifestations of rickets are primarily due to the softening of the bones and the body’s compensatory efforts to correct low calcium levels. These signs and symptoms can vary in severity but typically become apparent in children during their rapid growth phases. Here’s a detailed look at the clinical features of rickets:

• Growth Impairment: One of the earliest signs of rickets can be a noticeable slowing in growth rate, both in terms of height and weight. This is due to the impaired bone mineralization and the body’s prioritization of calcium for vital functions over bone growth.
• Bone Pain and Tenderness: Children with rickets may experience pain or tenderness in their bones, particularly in the legs, pelvis, and spine. This is often due to the weakened bones and can lead to irritability and discomfort in young children.
• Muscle Weakness: Low levels of calcium and phosphate can lead to hypotonia, or decreased muscle tone, which can result in muscle weakness. This may affect the child’s ability to crawl, walk, or perform other motor activities.
• Skeletal Deformities: As the disease progresses, several characteristic bone deformities can become evident, including:
  • Bow legs (genu varum) or knock knees (genu valgum), which are the result of the weight-bearing bones bending under the body’s weight.
  • The “rachitic rosary,” which refers to the prominence of the costochondral junctions along the rib cage, resembling a beaded necklace.
  • Craniotabes, a softening of the skull bones, which can be detected as a “ping-pong ball” feeling upon gentle pressure.
  • Pigeon chest (pectus carinatum) or a protruding breastbone and Harrison’s groove, a horizontal line at the level of the diaphragm.
• Dental Problems: Delayed tooth eruption, defects in tooth structure, and an increased propensity for cavities are also associated with rickets due to the essential role of calcium and phosphate in tooth formation.
• Hypocalcemic Symptoms: In severe cases, low levels of calcium (hypocalcemia) can lead to neuromuscular irritability, including:
  • Tetany, which is characterized by muscle cramps and spasms.
  • Convulsions, which are not common but can occur in severe cases.
• Developmental Delays: Due to the combination of muscle weakness, bone pain, and skeletal deformities, children with rickets may experience delays in reaching developmental milestones such as sitting up, crawling, or walking.
• Increased Susceptibility to Fractures: The weakened bones in children with rickets are more prone to fractures, even with minor trauma.
• Respiratory Complications: In some cases, the rib cage deformities can lead to respiratory difficulties due to the compromised structure of the chest wall.

The clinical manifestations of rickets are a direct reflection of the underlying metabolic disturbances. Early recognition and treatment are essential to prevent or minimize permanent bone deformities and ensure normal growth and development. Regular monitoring of growth parameters and developmental milestones, along with a high index of suspicion in at-risk populations, can aid in the timely diagnosis of rickets.

Diagnosis and Evaluation

Diagnosing rickets involves a combination of clinical assessment, laboratory tests, and imaging studies to confirm the presence of the disease and to determine its underlying cause. Here’s an expanded explanation of the diagnostic process:

• Clinical Assessment:
  • A detailed medical history is taken to understand dietary habits, sun exposure, family history of bone disorders, and any signs of delayed growth or development.
  • A thorough physical examination is conducted to look for signs of rickets, such as bone tenderness, deformities, and muscle weakness. The presence of features like the rachitic rosary, craniotabes, and dental problems can also be indicative of rickets.
• Laboratory Tests:
  • Blood tests are crucial for measuring levels of calcium, phosphorus, alkaline phosphatase (ALP), and parathyroid hormone (PTH). In rickets, typically, calcium levels may be low or normal, phosphorus levels are often low, ALP is elevated, and PTH may be elevated as a secondary response to low calcium.
  • Vitamin D status is assessed by measuring serum concentrations of 25-hydroxyvitamin D. Levels below 20 ng/mL (50 nmol/L) are generally considered indicative of vitamin D deficiency.
  • In some cases, genetic testing may be performed, especially if a hereditary form of rickets is suspected.
• Radiological Imaging:
  • X-rays of the bones are the most common imaging tests used to diagnose rickets. They can reveal characteristic changes associated with the disease, such as:
    • Widening, cupping, and fraying of the metaphyses (the regions of the bone adjacent to the growth plates).
    • Generalized bone demineralization, making the bones appear less dense and more translucent on X-rays.
    • Bowing of the long bones, particularly the legs.
  • Advanced imaging techniques like bone densitometry may be used in some cases to assess bone mineral density, although this is not typically necessary for diagnosis.
• Differential Diagnosis:
  • It’s important to differentiate rickets from other conditions that can cause similar symptoms, such as osteomalacia (the adult equivalent of rickets), genetic bone disorders, and other causes of growth retardation or bone deformities.
• Evaluation of Nutritional Status:
  • A dietary assessment may be conducted to evaluate the intake of vitamin D, calcium, and phosphorus.
  • In cases where malabsorption is suspected, additional tests may be performed to assess the digestive system’s ability to absorb nutrients.
• Response to Treatment:
  • In some cases, the diagnosis of rickets is further confirmed by a positive response to treatment with vitamin D and calcium supplementation.

The diagnosis and evaluation of rickets are comprehensive processes that involve not only identifying the signs of the disease but also understanding the underlying causes. This is essential for tailoring the treatment to the specific needs of the patient and for preventing recurrences. Early and accurate diagnosis followed by appropriate treatment can lead to complete recovery and normalization of bone growth.

Treatment and Management

The treatment and management of rickets aim to correct the deficiencies that lead to the disease, heal bone lesions, and address any complications or deformities that have arisen. Here’s a detailed approach to treating and managing rickets:

• Correction of Nutritional Deficiencies:
  • Vitamin D Supplementation: This is the cornerstone of rickets treatment. The specific regimen depends on the severity of the deficiency and the patient’s overall health, but it typically involves higher doses of vitamin D at the start of treatment, followed by a maintenance dose.
  • Calcium and Phosphorus Supplementation: Along with vitamin D, adequate intake of calcium and, if necessary, phosphorus is essential to support bone mineralization and healing.
  • Dietary Modifications: Patients are advised to consume foods rich in vitamin D, calcium, and phosphorus. This may include dairy products, fish, eggs, and fortified cereals and juices.
• Management of Underlying Conditions:
  • In cases where rickets is caused by malabsorption syndromes or other underlying health conditions, treating the primary condition is crucial. This may involve additional medications or dietary adjustments specific to the disorder.
• Monitoring and Follow-Up:
  • Regular monitoring of growth and development, as well as biochemical markers of bone metabolism, is important to assess the response to treatment and to adjust therapy as needed.
  • Follow-up X-rays may be used to monitor the healing of bone lesions and the correction of bone deformities.
• Addressing Skeletal Deformities:
  • In cases where significant bone deformities have developed, orthopedic interventions may be necessary. This can range from bracing to correct mild deformities to surgical procedures in more severe cases.
  • Physical therapy may be recommended to strengthen muscles and improve mobility.
• Prevention of Recurrences:
  • Education on the importance of a balanced diet and adequate sun exposure is an integral part of management to prevent recurrences.
  • In some regions, vitamin D supplementation is recommended for all children to prevent rickets, especially during the winter months or for those at high risk.
• Special Considerations for Genetic Forms:
  • For hereditary forms of rickets, such as those caused by renal phosphate wasting or enzyme deficiencies, specialized treatments are required. These may include specific forms of vitamin D (such as calcitriol) and oral phosphate supplements.
  • Genetic counseling may be offered to families where hereditary forms of rickets have been diagnosed.
• Public Health Measures:
  • At a broader level, public health initiatives such as food fortification with vitamin D and community health education play a significant role in the management and prevention of rickets.

The treatment and management of rickets are highly effective, especially when initiated early. With appropriate intervention, children can achieve normal bone development and lead healthy lives. It is also important to address the condition holistically, considering the patient’s overall health, nutritional status, and any special needs they may have due to underlying health conditions or genetic factors.

Prevention Strategies

Preventing rickets is largely about ensuring adequate intake of vitamin D and calcium, as well as sufficient exposure to sunlight. Here are detailed strategies for the prevention of rickets:

• Nutritional Intake:
  • Vitamin D: Encourage consumption of foods rich in vitamin D, such as fatty fish (like salmon and mackerel), fish liver oils, egg yolks, and mushrooms. Fortified foods, including milk, orange juice, and cereals, can also help increase vitamin D levels.
  • Calcium: Promote a diet that includes good sources of calcium, such as dairy products (milk, cheese, and yogurt), leafy green vegetables, nuts, seeds, and calcium-set tofu. Calcium-fortified plant milks and juices can also be beneficial, especially for those with dairy intolerance or those following a vegan diet.
  • Balanced Diet: A well-rounded diet that includes a variety of nutrients can help prevent not only rickets but also other nutritional deficiencies.
• Sun Exposure:
  • Moderate sun exposure, without sunscreen, can help the body synthesize vitamin D. The amount of time needed can vary based on skin tone, location, and time of year, but often as little as 5–30 minutes of sun exposure to the face, arms, legs, or back twice a week is sufficient.
  • It’s important to balance the need for vitamin D with the risk of skin damage and skin cancer. The middle of the day is when the sun’s UVB rays are strongest, but this is also when the risk of skin damage is highest.
• Supplementation:
  • Vitamin D supplements can be crucial, especially for those at high risk for deficiencies, such as exclusively breastfed infants, individuals with limited sun exposure, or those with darker skin living in northern latitudes.
  • The American Academy of Pediatrics recommends that all infants, starting from the first few days of life, should receive 400 IU of vitamin D per day to prevent rickets, unless they are consuming sufficient vitamin D in their diet.
• Public Health Policies:
  • Food fortification programs have been successful in reducing the incidence of rickets in many countries. Ensuring that foods such as milk, bread, and cereal are fortified with vitamin D is an effective prevention strategy.
  • Public health campaigns can raise awareness about the importance of vitamin D and calcium, and the risks of rickets, especially in communities at higher risk.
• Monitoring and Screening:
  • Regular health check-ups for children can help detect early signs of rickets or vitamin D deficiency before they become serious.
  • Screening programs in at-risk populations can identify individuals with low levels of vitamin D and calcium, allowing for early intervention.
• Education and Awareness:
  • Educating parents and caregivers about the signs of rickets and the importance of nutrition and sun exposure can help prevent the disease.
  • Healthcare providers can play a key role in prevention by informing families about the risks of vitamin D deficiency and the benefits of supplementation, particularly for infants and young children.
• Addressing Risk Factors:
  • Special attention should be given to those with additional risk factors for vitamin D deficiency, such as those with chronic kidney disease, malabsorption syndromes, or certain genetic conditions.

By implementing these prevention strategies, the incidence of rickets can be significantly reduced. It is a collective effort that involves individuals, families, healthcare providers, and public health policies working together to ensure that children receive the necessary nutrients for healthy bone development.

FAQs Section

Addressing common questions can help spread awareness and understanding of rickets:

• What are the early signs of rickets in children?
• Can adults get rickets, or is it only a childhood disease?
• How much sun exposure is needed to prevent rickets?
• Are there any long-term complications associated with rickets?
• How is rickets different from osteoporosis?

Conclusion

Rickets, a preventable bone disease, continues to affect children worldwide, particularly in areas with vitamin D deficiency and poor nutritional status. Understanding the causes, clinical manifestations, and treatment options is crucial for prevention and management of this condition. With proper dietary intake, supplementation, and safe sun exposure, rickets can be effectively prevented, ensuring healthy bone development in children. It is imperative to continue raising awareness and providing education on the importance of vitamin D and calcium for bone health to eradicate this entirely preventable disease.

Sources

• Mayo Clinic
• NHS
• Cleveland Clinic