Osteopetrosis (plural osteopetroses) is a rare hereditary disorder that makes bones increase in both density and fragility. A potentially fatal condition that can deform bone structure and distort the appearance, osteopetrosis is also called chalk bones, ivory bones, or marble bones.
Osteopetrosis occurs when bones are spongy or porous, or new bone is repeatedly added to calcified cartilage (hardened connective tissue).
Bone density begins to increase at birth or earlier, but symptoms may not become evident until adulthood. In mild cases, bone density increases at gradual, irregular intervals until full adult height is attained. Some bones are not affected.
More severe osteopetrosis progresses at a rapid pace and destroys bone structure. This condition involves bones throughout the body, but the lower jaw is never affected.
Types of osteopetroses
In early-onset osteopetrosis ends of the long bones of the arms and legs appear clubbed (widened and thickened) at birth, and bone density continues to increase sporadically or without pause. Early-onset osteopetroses can be a fatal condition, resulting in death before the age of two.
Malignant infantile osteopetrosis is most often discovered by the time a baby is a few months old. One-third of all malignant infantile osteopetroses cases result in death before the age of 10.
Intermediate osteopetrosis generally appears in children under 10. This condition, usually less severe than early-onset or malignant infantile osteopetrosis, is not life-threatening.
Symptoms of adult or delayed-onset osteopetrosis may not become evident until the child becomes a teenager or adult.
Relatively common in many parts of the world, Albers-Schönberg disease is a mild form of this condition. People who have this disease are born with normal bone structure. Bone density increases as they age but does not affect appearance, health, intelligence, or life span.
Causes and symptoms
Osteopetrosis is the result of a genetic defect that causes the body to add new bone more rapidly than existing bone disintegrates.
When fibrous or bony tissue invades bone marrow and displaces red blood cells, the patient may develop anemia. Infection results when excess bone impairs the immune system, and hemorrhage can occur when platelet production is disrupted. When the skeleton grows so thick that nerves are unable to pass between bones, the patient may have a stroke or become blind or deaf.
Other symptoms associated with osteopetrosis include:
- bones that break easily and do not heal properly
- enlargement of the liver, lymph glands, or spleen
- failure to thrive (delayed growth, weight gain, and development)
- hydrocephalus (fluid on the brain)
- macrocephaly (abnormal enlargement of the head)
- paralysis or loss of control of muscles in the face or eyes
Osteopetrosis is usually diagnosed when x rays reveal abnormalities or increases in bone density. Bone biopsy can confirm the presence of osteopetrosis, but additional tests may be needed to distinguish one type of the disorder from another.
High doses of vitamin D can stimulate cells responsible for disintegration of old bone and significantly alleviate symptoms of severe disease. Experimental interferon gamma 1-b therapy has been shown to reduce the risk of infection experienced by patients who are severely ill.
When bone overgrowth deforms the shape of the skull, surgery may be required to relieve pressure on the brain. Orthodontic treatment is sometimes necessary to correct malocclusion (a condition that shifts the position of the teeth and makes closing the mouth impossible).
Professional counseling can help patients cope with the emotional aspects of deformed features.
Bone marrow transplants (BMT) have cured some cases of early-onset and malignant infantile osteopetrosis. Because 30-60% of children who undergo BMT do not survive, this procedure is rarely performed.
The severity of anemia seems to determine the course of an individual's osteopetrosis. When pronounced symptoms are present at the time of birth, the child's condition deteriorates rapidly. Death usually occurs within two years. When mild or moderate disease develops in older children or adults and symptoms can be controlled, the patient is likely to survive.
Osteoporosis and Related Bone Diseases-National Resource Center. 1150 17th S. NW, Ste. 500, Washington, DC 20036. (800) 624-2663.
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.