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Brittle bone disease

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure this impairment causes those with the condition to have weak or fragile bones. more...

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As a genetic disorder, OI is a autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual (de novo or "sporadic") mutation.

Types

There are four types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type IV, Type III and Type II. A Type V has been proposed based on studies of Type IV.

Type I

  • OMIM 166200 - Type I
  • OMIM 166240 - Type IA

Collagen is normal but not of a high enough quantity:

  • Bones fracture easily, especially before puberty
  • Slight spinal curvature
  • Loose joints
  • Poor muscle tone
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type II

  • OMIM 166210 - Type II

Collagen is not of a sufficient quality or quantity

  • Most cases die before adulthood
  • Severe respiratory problems due to underdeveloped lungs
  • Severe bone deformity and small stature

Type III

  • OMIM 259420 - Type III

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, sometimes even before birth
  • Bone deformity, often severe
  • Respiratory problems possible
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Loose joints
  • Poor muscle tone in arms and legs
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type IV

  • OMIM 166220 - Type IV

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, especially before puberty
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Bone deformity is mild to moderate
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Treatment

At present there is no cure for OI so treatment is aimed at maintaining mobility and strengthening bones as much as possible.

Physiotherapy is used to strengthen muscles and improve motility in a gentle manner which minimises bone breakages. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure. One of the biggest problems is that children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

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Bone disorder drugs
From Gale Encyclopedia of Medicine, 4/6/01 by Nancy Ross-Flanigan

Definition

Bone disorder drugs are medicines used to treat diseases that weaken the bones.

Purpose

The drugs described here are used to treat or prevent osteoporosis (brittle bone disease) in women past menopause as well as older men. They also are used prescribed for Paget's disease, a painful condition that weakens and deforms bones, and they are used to control calcium levels in the blood.

Bone is living tissue. Like other tissue, bone is constantly being broken down and replaced with new material. Normally, there is a balance between the breakdown of old bone and its replacement with new bone. But when something goes wrong with the process, bone disorders may result.

Osteoporosis is a particular concern for women after menopause, as well as for older men. In osteoporosis, the inside of the bones become porous and thin. Over time, this condition weakens the bones and makes them more likely to break. Osteoporosis is four times more common in women than in men. This is because women have less bone mass than men, tend to live longer and take in less calcium, and need the female hormone estrogen to keep their bones strong. If men live long enough, they are also at risk of getting osteoporosis later in life. Once total bone mass has peaked--around age 35--all adults start to lose it. In women, the rate of bone loss speeds up during menopause, when estrogen levels fall. Bone loss may also occur if both ovaries are removed by surgery. Ovaries make estrogen. Hormone replacement therapy is one approach to preventing osteoporosis. However, not all people can use hormone replacement therapy. Bone disorder drugs are a good alternative for people who already have osteoporosis or who are at risk of developing it. Risk factors include lack of regular exercise, early menopause, being underweight, and a strong family history of osteoporosis.

Description

Bone disorder drugs are available only with a physician's prescription and come in tablet, nasal spray, and injectable forms. Commonly used bone disorder drugs are alendronate (Fosamax), calcitonin (Miacalcin, Calcimar), and raloxifene (Evista). Raloxifene belongs to a group of drugs known as selective estrogen receptor modulators (SERMs), which act like estrogen in some parts of the body but not in others. This makes the drugs less likely to cause some of the harmful effects that estrogen may cause. Unlike estrogen, raloxifene does not increase the risk of breast cancer. In fact, research suggests that raloxifene may even reduce that risk.

Recommended dosage

Alendronate

For osteoporosis

The usual dose is 10 mg once a day. Treatment usually continues over many years.

For Paget's disease

The usual dose is 40 mg once a day for 6 months.

This medicine works only when it is taken with a full glass of water first thing in the morning, at least 30 minutes before eating or drinking anything or taking any other medicine. Do not lie down for at least 30 minutes after taking it because the drug can irritate the esophagus, the tube that delivers food form the mouth to the stomach.

Calcitonin

Nasal spray

The usual dose is 1 spray into the nose once a day. Alternate nostrils, spraying the right nostril one day, the left nostril the next day, and so on.

Injectable

The recommended dosage depends on the condition for which the medicine is prescribed and may be different for different people. Check with the physician who prescribed the medicine or the pharmacist who filled the prescription for the proper dosage.

Raloxifene

The usual dose is one 60-mg tablet daily.

Precautions

Aldendronate

People with low levels of calcium in their blood should not take this medicine. It also is not recommended for women on hormone replacement therapy or for anyone with kidney problems. Before using alendronate, anyone who has digestive or swallowing problems should make sure that his or her physician knows about the condition.

Calcitonin

Calcitonin nasal spray may cause irritation or small sores in the nose. Check with a physician if this becomes very uncomfortable or if there is bleeding from the nose.

The injectable form of calcitonin has caused serious allergic reactions in a few people. The nasal spray is not known to cause such reactions, but the possibility exists. Before starting treatment with calcitonin, the physician who prescribes the drug may order an allergy test to make sure there will not be a problem.

Raloxifene

A rare, but serious side effect of raloxifene is an increased risk of blood clots that form in the veins and may break away and travel to the lungs. This is about as likely in women who take raloxifene as it is in women who take estrogen. Because of this possible problem, women with a history of blood clots in their veins should not take raloxifene.

Women who have had breast cancer or cancer of the uterus should check with their physicians about whether they can safely use raloxifene.

General precautions for bone disorder drugs

To keep bones strong, the body needs calcium and vitamin D. Dairy products and fish such as salmon, sardines and tuna are good sources of both calcium and vitamin D. People who are taking bone disorder drugs for osteoporosis and who do not get enough of these nutrients in their diets should check with their physicians about taking supplements. Other important bone-saving steps are avoiding smoking and alcohol and getting enough of the kind of exercise that puts weight on the bones (such as walking or lifting weights).

People who are taking these drugs because they have too much calcium in their blood may need to limit the amount of calcium in their diets. Too much calcium may prevent the medicine from working properly. Discuss the proper diet with the physician who prescribed the drug, and do not make any diet changes without the physician's approval.

Anyone who has had unusual reactions to bone disorder drugs in the past should let his or her physician know before taking the drugs again. The physician also should be told about any allergies to foods, dyes, preservatives, or other substances.

Women who are pregnant or who may become pregnant and women who are breastfeeding should check with their physicians before using this alendronate or calcitonin. Raloxifene should not be used by women who are pregnant or who may become pregnant. In laboratory studies of rats, raloxifene caused birth defects.

Side effects

Aldendronate

Common side effects include constipation, diarrhea, indigestion, nausea, pain in the abdomen, and pain in the muscles and bones. These problems usually go away as the body adjusts to the medicine and do not need medical attention unless they continue or they interfere with normal activities.

Calcitonin

The most common side effects of calcitonin nasal spray are nose problems, such as dryness, redness, itching, sores, bleeding and general discomfort. These problems should go away as the body adjusts to the medicine, but if they do not or if they are very uncomfortable, check with a physician. Other side effects that should be brought to a physician's attention include headache, back pain and joint pain.

Injectable calcitonin may cause minor side effects such as nausea or vomiting; diarrhea; stomach pain; loss of appetite; flushing of the face, ears, hands or feet; and discomfort or redness at the place on the body where it is injected. Medical attention is not necessary unless these problems persist or cause unusual discomfort.

Anyone who has a skin rash or hives after taking injectable calcitonin should check with a physician as soon as possible.

Raloxifene

Common side effects include hot flashes, leg cramps, nausea and vomiting. Women who have these problems while taking raloxifene should check with their physicians.

Interactions

Aldendronate

Taking aspirin with alendronate may increase the chance of upset stomach, especially if the dose of alendronate is more than 10 mg per day. If an analgesic is necessary, switch to another drug, such as acetaminophen (Tylenol) or use buffered aspirin. Ask a physician or pharmacist for the correct medication to use.

Some calcium supplements, antacids and other medicines keep the body from absorbing alendronate. To prevent this problem, do not take any other medicine within 30 minutes of taking alendronate.

Calcitonin

Calcitonin may keep certain other drugs for Paget's disease, such as etidronate (Didronel), from working as they should.

Raloxifene

Raloxifene may affect blood clotting. Patients who are taking other drugs that affect blood clotting, such as warfarin (Coumadin), should check with their physicians before using raloxifene.

Key Terms

Estrogen
The main sex hormone that controls normal sexual development in females. During the menstrual cycle, estrogen helps prepare the body for possible pregnancy.
Fracture
A break or crack in a bone.
Hormone
A substance that is produced in one part of the body, then travels through the bloodstream to another part of the body where it has its effect.

Menopause
The stage in a woman's life when the ovaries stop producing egg cells at regular times and menstruation stops.
Osteoporosis
A disease in which bones become very porous and weak. The bones are then more likely to fracture and take longer to heal. The condition is most common in women after menopause but can also occur in older men.

Further Reading

For Your Information

    Organizations

  • Foundation For Osteoporosis Research & Education. Telephone: 888-266-3015 or 510-832-2663. Website: http://www.fore.org/
  • National Association for the Relief of Paget's Disease. Website: http://www.demon.co.uk/narpd/
  • National Osteoporosis Foundation 1150 17th Street NW Suite 500 Washington, D.C. 20036-4603. Website: http://www.nof.org/

Gale Encyclopedia of Medicine. Gale Research, 1999.

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