Orthopaedic Aspects of Gauchers Disease

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During his whistle stop tour of Europe Professor Henry J Mankin MD, former Chief of Orthopaedic Service, Massachusetts General Hospital and Professor of Orthopaedics in Harvard Medical School visited the Royal Free Hospital, London to present a lecture.

The lecture, which was attended by professionals and a number of members from the UK Gaucher Association, began by outlining the cause of Gaucher disease, its history and symptoms before moving on to the main topic of bone disease.

Professor Mankin spoke passionately and enthusiastically sharing his knowledge and experience of Gaucher disease with an audience who interacted by asking questions and answering questions posed to them by him.

Skeletal Complications

Professor Mankin spoke of a high prevalence of bone disease amongst patients with Gaucher disease that is often associated with considerable pain, mobility impairment, and a highly negative impact on quality of life. The underlying cause of bone complications in patients with Gaucher disease is understood to begin with bone marrow infiltration by Gaucher cells.

The bone marrow fills up with the Gaucher cells and the healthy bone marrow cells are squeezed out which results in less bone marrow. The Gaucher cells increase pressure causing painful ischemia (deficient supply of blood to part of the body due to obstruction of the inflow of arterial blood) and oedema (excessive fluid) which may result in bone crises and infarctions (an area of tissue death due to a local lack of oxygen).

In the bone there are several different types of cells: osteoblasts which build bone and osteoclasts which destroy bone. In patients with Gaucher disease, the crowding of the Gaucher cells may reduce the capacity of osteoblasts to produce new bone as well as the process of osteoclasts to destroy the bone. As a result of these complications patients may experience:

Evaluating and Monitoring

There are a number of imaging methods used in evaluating and monitoring bone involvement in Gaucher disease which include:

o MRI (Magnetic resonance imaging) can help to assess bone marrow infiltration and detect infarction, fractures and avascular necrosis.

o Plain x-rays can be used to detect bone deformity and most fractures. However it is not especially useful in assessing patients with Gaucher disease as it is not sensitive to many of the types of changes of in the skeleton including bone marrow infiltration and mild osteopenia.

o DEXA is a standard measure for measuring bone mineral density. The results are compared to those for age and sex-matched normal control subjects.


There are various treatments available to treat bone disease in Gaucher patients with Gaucher disease. These include exercise e.g. swimming, vitamin D, analgesics (for pain), orthopaedic procedures (such as hip replacements), enzyme replacement therapy, bisphosphonates and growth hormone.

The goals of therapy for patients with Gaucher disease should include stabilising and reversing progression of skeletal disease.

Enzyme Replacement Therapy

Professor Mankin went on to explain the effects of enzyme replacement therapy on bone disease. Bone marrow infiltration often responds well and skeletal improvements can be observed within the first one to two years of starting enzyme replacement therapy, although it generally takes up to three or four years to improve.

In patients receiving treatment bone crises were less intense and frequent, osteonecrosis was less common and there were fewer surgical problems. Skeletal improvements in adults on enzyme replacement therapy have been shown not to respond as well as in children, with the rate of improvement being slower. Professor Mankin said that the dose of enzyme replacement therapy should be at 30 to 60 U/kg/2 weeks but after treatment has started, dosage may be adjusted accordingly to treatment responses.

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Source: Gauchers News December 2005.
© Copyright Gauchers Association 2006