| Abstract|| |
This study was conducted to determine the causes and clinical presentations of osteomalacia/rickets in adolescents seen at the King Abdulaziz Medical City (KAMC), Riyadh. Because osteomalacia and rickets constitute the same entity, the term osteomalacia will be used for future discussion. A retrospective file review was performed on all adolescents (10-16 years) with osteomalacia, defined as alkaline phosphatase levels ≥500 IU/L, seen at the KAMC, Riyadh, from 2000 to 2006. We recorded the signs and symptoms, dietary history and amount of sun exposure at presentation. A total of 135 patients were found to fit the inclusion criteria for the study. Of them, 57 had nutritional causes, with a mean age of 13.2 years, and included 32 females. At diagnosis, 22 patients were found to have bone pain, 10 had bone deformities, eight had pathological fractures and 17 were asymptomatic. Secondary causes for osteomalacia were found in 59 cases who had liver and renal disease and in 19 other patients who were on medications such as anticonvulsants and steroids, which are known to cause osteomalacia. Our study indicates that osteomalacia is a significant health burden that deserves special attention. Bone pain is the most common presenting symptom at diagnosis. Because of the high risk of osteomalacia associated with the use of anticonvulsants and steroids, it is advised that all patients on these drugs should be routinely screened for secondary osteomalacia.
|How to cite this article:|
Hazzazi MA, Alzeer I, Tamimi W, Al Atawi M, Al Alwan I. Clinical presentation and etiology of osteomalacia/rickets in adolescents. Saudi J Kidney Dis Transpl 2013;24:938-41
|How to cite this URL:|
Hazzazi MA, Alzeer I, Tamimi W, Al Atawi M, Al Alwan I. Clinical presentation and etiology of osteomalacia/rickets in adolescents. Saudi J Kidney Dis Transpl [serial online] 2013 [cited 2019 Oct 20];24:938-41. Available from: http://www.sjkdt.org/text.asp?2013/24/5/938/118087
| Introduction|| |
Rickets is a disorder of defective mineralization of cartilage in the epiphyseal growth plates of children, leading to widening of the ends of long bones, growth retardation, skeletal deformities and delayed developmental milestones. , By contrast, osteomalacia, seen primarily in adults, is a metabolic disorder caused by the deficiency of vitamin D or its metabolites, which leads to failure of mature bone to mineralize, leading to reduced bone density.  Because ostomalacia and rickets constitute the same entity, the term osteomalacia will be used for future discussion. Osteomalacia can manifest as bone pain, tenderness and/or muscle weakness.  Fractures of the ribs, vertebrae and long bones, as well as waddling gait, were reported in some studies; however, skeletal deformities are infrequent in adults. ,
Reasons for vitamin D deficiency include inadequate dietary intake of calcium and vitamin D, malabsorption, inadequate exposure to sunlight, renal and liver disease and medications.  The diagnosis of osteomalacia can be determined by several methods; however, in 1982, Hedley Peach and his group concluded that plasma alkaline phosphatase activity is the best single routine biochemical screening test for osteomalacia. ,
In developing countries, osteomalacia is still seen in older children and adolescents with increasing frequency.  In Saudi Arabia, despite the prevailing economic affluence and adequate sunlight all year round, vitamin D deficiency is fairly common in infants, children and adolescents as well as in pregnant and lactating women. ,,, Although there is an awareness of the high prevalence of vitamin D deficiency in Saudi Arabia, a review of the literature revealed a lack of data on the most common presentations.
The aim of this study was to identify the possible etiologies of osteomalacia in adolescents seen at the King Abdulaziz Medical City (KAMC), Riyadh, and to discern any predominantly shared presentation at diagnosis.
| Methods|| |
This is a retrospective study conducted at the KAMC, Riyadh. The records of all adolescents (age: 10-16 years), seen between 2000 and 2006, with osteomalacia (defined by alkaline phosphatase equal to, or more than 500 IU/L) were reviewed.
A total of 8494 patients were tested and 135 had alkaline phosphatase levels of over 500 IU/L. The initial sample size was 135 patients. The patients were divided into two groups according to etiology. Group A included patients with either liver or renal disease or both, or those who were found to be on medications that might cause secondary osteomalacia. Group B included patients who had no obvious secondary etiology and, thus, were assumed to have nutritional osteomalacia.
A detailed review and data extraction was performed on the medical records of each case of nutritional osteomalacia (Group B). Analysis included age, sex, presenting symptoms and signs, presence or absence of fractures and bone deformities (confirmed by bone X-ray or presence of symptoms), diet history, sun exposure (assessed by duration and frequency of direct sun exposure) or chronic illness as well as medication history (steroids, anti-convulsants, calcium supplements and phosphates).
Statistical analysis was performed using Statistical Package for Social Sciences (SPSS) version 16.
| Results|| |
In Group A, there were 59 patients (43%) who had secondary osteomalacia due to liver or renal disease or both and 19 patients (14%) who were on medications known to cause osteomalacia. [Table 1] shows a list of these medications and their frequencies. Despite having abnormal alkaline phosphatase levels, these patients were not given vitamin D or calcium.
|Table 1: List of medications associated with osteomalacia and their frequencies.|
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Group B, classified as nutritional osteomalacia, consisted of 57 patients aged between 10 and 16 years, with a mean age of 13.2 years ± 1.5 years, and included 32 females (56%).
Bone pain was the most common presentation seen in 22 patients (38.2%) and the least common clinical presentation was pathological fractures, seen in eight patients (14%). [Table 2] summarizes the common presentations and their frequencies.
|Table 2: Common clinical presentations among patients with nutritional osteomalacia.|
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Fifteen patients had a documented dietary history of an unbalanced diet with increased consumption of fast food and soft drinks. One patient had good sun exposure (three to five times per week) and three patients had rare sun exposure (<2 times per week) documented in their medical records.
| Discussion|| |
Our study revealed that in adolescents with osteomalacia secondary to nutritional etiology, 38% had non-specific symptoms and 30% were asymptomatic. These patients are more likely to be under-diagnosed.
Rickets and osteomalacia have been identified as persistent global health concerns.  In the USA, Weisberg et al reviewed the cases reported between 1980 and 2003 and concluded that osteomalacia and rickets are still prevalent in the US.  In a study from the UK conducted in 2002, Shaw reported that vitamin D deficiency in Asian families is a continuing problem.  Although the aforementioned studies are from countries that are prone to have a high prevalence of rickets and osteomalacia due to their limited sun exposure, there are many reports from countries with adequate or high sun exposure, like Saudi Arabia  and Australia.  These studies show that rickets and osteomalacia are still a major health burden.
In Saudi Arabia, inadequate vitamin D levels were detected in a population-based study, and it was shown that vitamin D deficiency osteomalacia/rickets is common. , Siddiqui commented that Saudi females tend to have less sun exposure due to socio-cultural reasons and lack of an awareness of the importance of sun exposure for bone health as well as cosmetic reasons or because it is thought to be harmful.  O'Hare and Mishal noted that in many countries, Asian females have low levels of vitamin D, increasing their risk of developing osteomalacia. ,
Unlike Siddiqui and O'Hare and Mishal, we found no significant difference between females (56%) and males (44%) in the prevalence of osteomalacia in our study. A possible explanation for these differences may be due to the site, i.e. school or hospital based, and the regional area of the study.
Karrar (1998) found that most cases of osteomalacia were asymptomatic and, if present, the symptoms were non-specific. He attributed the high prevalence of vitamin D deficiency to a lack of both dietary intake and sun exposure.  Al Jurayyan et al reported that the majority of patients in their study presented with non-specific symptoms such as bone pain, which caused difficulty in making a clinical diagnosis in the less-severe cases.  Similar findings were reported by Siddiqui, indicating that most patients presented with non-specific symptoms or were asymptomatic. Similarly, most of our patients presented with non-specific symptoms like bone pain or were asymptomatic.
Siddiqui noted that girls who had severe vitamin D deficiency were rarely exposed to the sun, came from lower income families and that their vitamin D deficiency may be related to living in smaller, crowded houses with limited internal sunlight. 
Sedrani reported that while Saudi Arabia has an abundance of sunlight, exposure is generally limited due to the high daytime temperatures, which reduce the tendency of people to go out. ,, Fida agreed with Sedrani that even though Saudi Arabia enjoys year-round sunlight, it is common for children in Central and Western Saudi Arabia to have vitamin D deficiency. ,
In our study, it was noted that in patients who developed secondary osteomalacia due to steroids or anticonvulsants, the diagnosis was often missed and the patients were not given vitamin D or calcium supplements.
Our retrospective study was limited by using medical records as the only source of data and the fact that these records were limited to patients seen at the KAMC only. Thus, these results may not be representing the Saudi adolescents as a whole. We recommend that a more detailed and comprehensive study be considered to confirm our findings in the assessment of the dietary intake of vitamin D and sun exposure in relation to the onset of osteomalacia.
Our study suggests that nutritional osteomalacia is a health problem seen in adolescents in Saudi Arabia, even though there is economic affluence and abundant sunlight. Patients with low dietary intake of vitamin D or those with limited sun exposure may be at a risk of developing osteomalacia. Patients who are on either steroids or anticonvulsants are similarly at a risk of developing secondary osteomalacia.
Special attention should be given to preventive measures through education and appropriate dietary supplements of vitamin D and minerals. Outdoor activities with direct or indirect exposure of sunlight are to be encouraged and supervised. We advise that all patients on either anticonvulsants or steroids be screened periodically for osteomalacia and, if they are at a high risk, should be started on vitamin D and calcium supplements as prophylaxis.
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Mohammad A Hazzazi
King Saud bin Abdulaziz University for Health Sciences, PO Box 22490, MC 3130, Riyadh
[Table 1], [Table 2]