Osteomalacia & Rickets Disease

BASICS

DESCRIPTION

Osteomalacia (referred to as rickets in children) is defined as an excess organic bone matrix secondary to defective or inadequate bone mineralization

System(s) affected: Musculoskeletal
Genetics: N/A
Incidence/Prevalence in USA: N/A
Predominant age: All ages. In adults, osteomalacia is usually a disease of the older population (50-80).
Predominant sex: Female > Male (slightly)

SIGNS AND SYMPTOMS

Bone pain, tenderness, muscle weakness
Bone pain is dull and tends to be poorly localized, usually affecting the ribs and upper thighs
Muscle weakness is usually proximal
Other symptoms of malnutrition or an underlying problem such as chronic renal disease may also be clinically evident
Weight loss
Anorexia
Tetany
In young children - restlessness, poor sleep patterns, craniotabes, costochondral beading, bowlegs, kyphoscoliosis

CAUSES

Can be caused by a wide variety of pathogenic processes, including, but not limited to, vitamin D deficiency (reduced exposure to sunlight, poor nutrition, malabsorption syndromes)
Defective metabolism of parent vitamin D to active metabolites (drug-induced e.g., anticonvulsants such as phenytoin [Dilantin], chronic renal failure), hypophosphatemia (renal tubular acidosis, hypophosphatemic syndrome), miscellaneous (long-term hemodialysis, malnutrition, vitamin D–dependent rickets)

RISK FACTORS

Poverty
Inadequate nutrition and sunlight exposure

DIAGNOSIS

LABORATORY

Alkaline phosphatase - increased
Serum calcium is low or normal (never high)
Hypophosphatemia
Aminoaciduria
Acidosis
Glucosuria
Hypouricemia

Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A

PATHOLOGICAL FINDINGS

Defective calcification of growing bone
Hypertrophy of epiphyseal cartilages

SPECIAL TESTS

N/A

IMAGING

Radiographic changes are non-specific. Earliest manifestations are thinning of cortical bone. In long-term osteomalacia: bone softening (protrusio acetabuli), looser lines, stress fractures, and pathologic fractures.

DIAGNOSTIC PROCEDURES

Bone biopsy and subsequent histopathologic evaluation deliver the most accurate diagnosis of osteomalacia. The biopsy is usually taken from the iliac crest, and both calcified, and non-calcified studies, as well as special stains (including von Kossa's stain) are helpful.

TREATMENT

APPROPRIATE HEALTH CARE

Can be managed on an outpatient basis, except for complicating emergencies/fractures

GENERAL MEASURES

Treatment of osteomalacia depends upon the cause, i.e., gastrointestinal, renal, or nutritional
For nutritional osteomalacia, calcium and vitamin D have been shown to correct the disease process
Treatment can be monitored by observing simple bone biochemistry
Treatment results depend on identifying and correcting the cause

SURGICAL MEASURES

N/A

ACTIVITY

Full activity is encouraged, including a neuroconditioning program

DIET

Ensure adequate vitamin D intake
Provide instructions for a high calcium diet and information on calcium supplements, if appropriate

PATIENT EDUCATION

Educate family and patient on nutrition

FOLLOW UP

PREVENTION/AVOIDANCE

Adequate dietary intake of vitamin D
Adequate sunlight exposure
Fortified cow's milk

POSSIBLE COMPLICATIONS

Fractures
Osteomyelitis
Renal failure
Renal tubular acidosis
Seizures
Growth deformity; bowing of long bones in children

EXPECTED COURSE AND PROGNOSIS

Variable

MISCELLANEOUS

ASSOCIATED CONDITIONS

Chronic renal disease
Epilepsy
Malnutrition
Previous gastric surgery
Pregnancy - nutritional factors

AGE-RELATED FACTORS

Pediatric: N/A
Geriatric: Studies have suggested that vitamin D deficiency osteomalacia is a relatively common condition in the acutely ill elderly population, with an estimated prevalence of about 3-5%; however, it often goes undiagnosed
Others: N/A

PREGNANCY

N/A

OTHER NOTES

N/A

ABBREVIATIONS

N/A

Clinical Investigations

ROLE OF HOMOEOPATHY

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