Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease: Causes, Symptoms, Treatment

There are many medical conditions which affect the development of bone and cause bone pain in the body. Some may be common and some may be rare. In this article, we will discuss about one such condition called Monostotic Fibrous Dysplasia also known by the name of Jaffe-Lichtenstein Disease in which the normal development of bone is hindered resulting in bone pain and other complications.¹

Fibrous dysplasia is a disorder of the bone where there is development of fibrous instead of development of normal bone.¹ As there is growth of bone, the soft fibrous tissue starts expanding and thus making the bone weak. When fibrous dysplasia affects single bone, it is known as Monostotic Fibrous Dysplasia and when it affects multiple bones then it is known as polyostotic fibrous dysplasia.

Monostotic fibrous dysplasia or Jaffe-Lichtenstein Disease can result in the affected bone becoming deformed and make it prone to fractures.

A majority of people with Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease are diagnosed in adolescence or when they step into adulthood. Mild cases of it produce no symptoms as such, but potentially serious cases of Monostotic Fibrous Dysplasia causes severe bone pain and deformity of the bone. The precise reason for development of it is still unknown and hence there is no cure found for this disease. The treatment of Monostotic Fibrous Dysplasia is generally based on relieving the symptoms that an individual experiences.

The development of Monostotic Fibrous Dysplasia can actually begin even before birth. Actually, researchers are of the feeling that the development of Jaffe-Lichtenstein Disease is linked to a gene mutation affecting the cells which produce bones but till date no one is exactly sure as to what causes this gene mutation but it is proved that it is not an inherited disorder.

We know that the bones in our body are living tissues which means that even after we start growing the bone are in the continuous process of development. In the process, there are certain bone cells which resorb the bone while other cells rebuild it. Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease hinders this process resulting in old bone to break down quickly and replacing the normal bone tissue with fibrous tissues.

Jaffe-Lichtenstein Disease generally affects a solitary bone in the body and is termed as Monostotic Fibrous Dysplasia. These do not have any signs or symptoms. In case if more than one bone gets affected then the disorder is called as Polyostotic Fibrous Dysplasia. The bones that commonly get affected by Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease are as follows:

• Femur
• Tibia
• Bones of the Pelvis
• Rib Bones
• Skull Bones
• Facial Bones
• Humerus

Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease tends to cause little or no symptoms, especially if the condition is mild. The typical signs and symptoms of Monostotic Fibrous Dysplasia develop in early teens or 20s. If Monostotic Fibrous Dysplasia affects more than one bone, then an individual tends to start experiencing symptoms by the age of 10. The severe forms of Jaffe-Lichtenstein Disease cause the following symptoms:

• Severe bone pain
• Ambulation problems
• Deformity of the bone
• Fractures

There have been rare instances where Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease has caused abnormalities in pituitary glands.

Monostotic Fibrous Dysplasia is usually found incidentally on x-ray done for some other medical condition. If an individual has some of the typical signs and symptoms of Monostotic Fibrous Dysplasia, then the physician will perform a detailed physical examination and order x-rays of bones that seem to be affected. On x-ray studies, Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein will appear as an abnormal lesion with a hazy appearance.

In some instances, the physician may want some other tests to be done in order to confirm the diagnosis and to know the extent of the disease. The tests include:

• Imaging studies
• CT scan
• MRI scan
• Bone scan
• Bone biopsy

When an individual goes in for an evaluation with symptoms of Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease, the healthcare provider may ask the following questions:

• When did the symptoms first start?
• What has been the frequency of the symptoms, and whether they are continuous or intermittent?
• What is the severity of the symptoms?
• Are there any medications being taken for the pain?
• Does the pain affect the sleep?
• Has the deformity remained the same or has it changed in size or character?

Apart from bone pain and deformity along with fractures, Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein disease can also cause the following medical conditions:

• Bone Deformity: In this, the bone becomes weak and tends to bend. In case if the spine is affected then, it may cause scoliosis.
• Vision and Hearing Loss: The nerves near the eyes and ears may get encompassed by the affected bone resulting in hearing or vision loss, even though such instances are rare.
• Arthritis: In case the bones of the legs and pelvis get affected there may be formation of arthritis in those joints of the bones.
• Cancer: In rare instances, the affected area of bone may become cancerous, but this condition is only limited to those individual who have had previous radiation treatments for some other cancerous condition.

If an individual has a mild form of Monostotic Fibrous Dysplasia or Jaffe-Lichtenstein Disease with little to no symptoms of pain or deformity, then the risk of that individual getting complications from Jaffe-Lichtenstein Disease is pretty low. You may need periodic monitoring for a period of time with radiological studies and if still there is no change in the studies then there is no treatment required.

In case there are signs and symptoms which are progressive then the following treatments might be helpful.

Medications: Medications to include bisphosphonates and alendronate can be used to slow down bone breakdown, protect bone mass, and even help increase bone density reducing risk of fractures. These medications are used by physicians to primarily treat osteoporosis. Bisphosphonates also have an additional advantage of reducing pain in the bones Bisphosphonates are generally used in adults and their efficacy is still unknown in children and adolescents but some studies indicate that they are helpful as pain relievers.

Oral form of bisphosphonates is usually well tolerated, but it carries a side effect of GI upset and in such cases IV bisphosphonates may be used. This medication is not advised for people with poor kidney function or low calcium levels.

Surgery: Surgery may be recommended by the physician for following situations:

• Correcting deformity
• Repair limb length discrepancy
• Repair fracture
• Removal of a bone lesion which causes difficulties
• Relieving pressure built on nerves in cases when the affected bone is in the skull or face.

Surgery may also be done in order to remove a bone lesion and replacing it with a graft from another part of the body. Metal plates may be inserted along with rods and screws in order to stabilize the bone. The surgery carries inherent risks of blood clots, bleeding etc.

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