Osteomalacia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Osteomalacia
ICD-10	M83
ICD-9	268.2
DiseasesDB	9351
eMedicine	ped/2014  radio/610
MeSH	D010018

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List of terms related to Osteomalacia

Osteomalacia is the defective uptake of minerals into the normal or overgrowing protein bone matrix. It is considered a secondary bone formation impairment. It can lead to increased bone softness and a curvature of the bone. Osteomalacia in children is known as rickets, and because of this, osteomalacia is often restricted to the milder, adult form of the disease. It may show signs as diffuse body pains, muscle weakness, and fragility of the bones. A common cause of the disease is a deficiency in Vitamin D, which is normally obtained from the diet and/or sunlight exposure.

General characteristics

Osteomalacia in the adult is most commonly found in confined, dark-skinned, or diet-disbalanced subjects. Many of the effects of the disease overlap with the more common osteoporosis, but the two diseases are significantly different. Osteomalacia is specifically a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D.

Osteomalacia is derived from Greek: osteo refers to bone, and malacia means softness. In the past, the disease was also known as malacosteon and its Latin-derived equivalent, mollities ossium.

Common Causes

• Insufficient sunlight exposure, especially in dark-skinned subjects
• Insufficient nutritional quantities or faulty metabolism of vitamin D or phosphorus
• Renal tubular acidosis
• Malnutrition during pregnancy
• Malabsorption syndrome
• Chronic renal failure

Causes by Organ System

Cardiovascular	No underlying causes
Chemical/Poisoning	No underlying causes
Dental	No underlying causes
Dermatologic	No underlying causes
Drug Side Effect	No underlying causes
Ear Nose Throat	No underlying causes
Endocrine	No underlying causes
Environmental	No underlying causes
Gastroenterologic	No underlying causes
Genetic	No underlying causes
Hematologic	No underlying causes
Iatrogenic	No underlying causes
Infectious Disease	No underlying causes
Musculoskeletal/Orthopedic	No underlying causes
Neurologic	No underlying causes
Nutritional/Metabolic	No underlying causes
Obstetric/Gynecologic	No underlying causes
Oncologic	No underlying causes
Ophthalmologic	No underlying causes
Overdose/Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal/Electrolyte	No underlying causes
Rheumatology/Immunology/Allergy	No underlying causes
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	No underlying causes
Miscellaneous	No underlying causes

Causes in Alphabetical Order

Alcoholic cirrhosis Aluminium Antacids Anticonvulsants Autosomal dominant hypophosphatemic rickets Axial osteomalacia Biliary cirrhosis Bisphosphonates Chronic renal failure Cystinosis Dent disease Disorders of vitamin D metabolism Ethotoin Etidronate Fanconi syndrome Fibrogenesis imperfecta Fluoride Glutethimide Hereditary hypophosphatemic rickets with hypercalciuria Hypokalaemic distal renal tubular acidosis Hypoparathyroidism Hypophosphataemia Inadequate sunlight exposure Malabsorption syndrome

Gastrectomy Gastrointestinal bypass Malnutrition during pregnancy Multiple myeloma Nephropathic early-onset cystinosis Nephrotic syndrome Oncogenic osteomalacia Osteogenesis imperfecta Pancreatic insufficiency Phenytoin Proximal renal tubular acidosis Renal failure Renal tubular acidosis, type 1 Small bowel disease Sporadic acquired hypophosphatemic rickets Vitamin D deficiency Vitamin D dependent rickets type 1 Vitamin D dependent rickets type 2a Wilson disease X-linked hypophosphataemia X-linked hypophosphatemic rickets (vitamin D resistant rickets, VDRR) X-linked inherited conditions

Clinical features

Osteomalacia in adults starts insidiously as aches and pains in the lumbar (lower back) region and thighs, spreading later to the arms and ribs. Pain is non-radiating, symmetrical, and accompanied by tenderness in the involved bones. Proximal muscles are weak, and there is difficulty in climbing up stairs and getting up from a squatting position. Physical signs include deformities like triradiate pelvis and lordosis. The patient has a typical "waddling gait". Pathologic fractures due to weight bearing may develop. Most of the time, the only alleged symptom is chronic fatigue and bone aches are not spontaneous but only revealed by pressure or shocks.

Biochemical findings

Biochemical features are similar to rickets.The major fact is a collapsed vitamine D rate in blood or serum.

Radiographic characteristics

X Ray

Radiological appearances include

• Indistinct border to the medullary spongiosa
• Thinning of the basal lamina and end plates
• Loss of definition in the trabecular details
• Separation of the compact bone layers
• Pseudofractures
• Protrusio acetabuli

Differential Diagnosis of Causes of Osteomalacia

Lack of Circulating Vitamin D

• Anticonvulsant therapy
• Chronic Liver Disease
• Chronic Renal Failure
• Exocrine pancreatic insufficiency
• Faulty bile function
• Gastrectomy
• Insufficient sun exposure
• Malnurishment in advanced age
• Mesenchymal tumors
• Nephrotic Syndrome
• Prostate Cancer
• Small intestine disease
• Undernurishment
• Vegetarian diet

Peripheral Resistance to Vitamin D

• Anticonvulsant therapy
• Chronic Renal Failure
• Vitamin D dependent ricketts

Hypophosphatemia

• Chronic Dialysis
• Fanconi syndrome
• Malabsorbtion
• Malnutrition
• Neurofibromatosis
• Primary Hypoparathyroidism
• Toxins
• Tumor phosphaturia

Miscellaneous

• Calcium deficiency
• Calcification inhibitors
• Chronic acidosis
• Hypoparathyroidism
• Renal transplantation

Treatment

Nutritional osteomalacia responds well to administration of 200000 IU weekly of vitamin D for 4 to 6 weeks, followed by a maintenance dose of 1600 IU daily or 200000 IU every 4 to 6 months.

Related Chapters

• Osteoporosis
• Osteopetrosis, the opposite of osteomalacia

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