Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia, usually simply called M.E.D. is an uncommon developmental condition. It was first described by Fairbanks in 1935 and is known to affect 11 persons per million. It’s genetic pattern is said to be autosomal dominant, but as with all genetic complaints, spontaneous mutations can occur, and some autosomal recessive cases have been reported.
The Multiple Epiphyseal Dysplasias have been classified into a mild ribbing variety, in which stature is near normal and hip involvement is the major abnormality, and the more typical Fairbanks type (described by Fairbanks in 1947)
which is more severe, often resulting in short stature with multiple Epiphyseal involvement.
One of the main differential diagnoses of M.E.D. is from bi-lateral Perthes disease. Pain, limp, and limitation of movement are common to both conditions, and radiological features are very alike. M.E.D. can be one pair of joints or many, the
striking feature being that Bi-Lateral Perthes is rarely if ever, symmetrical. M.E.D cannot be recognised at birth and it is rarely seen in early infancy; most commonly it presents at the age of 6 or 7 with bi-lateral abnormalities, although occasionally it has been found incidentally in adult life.
Because the wide range of severity, ranging from one pair of joints to widespread involvement with crippling osteoarthritis, it is not possible to predict a long term prognosis. There is usually some shortness of stature. Irregular Epiphyseal growth, usually involving many joints symmetrically, but occasionally only one pair, leading to premature degenerative changes.
Joints most commonly affected are hips, knees, ankles and shoulders, also hands and wrists with minimal involvement of the spine. Occasionally elbows are affected, and there is a similarity to Panners disease or osteochondritis of the Capitulum. Biochemical and blood tests are normal. Generalised Bone maturation – delay for up to 4 or 5 years. Unlike Perthes disease, this is a life time condition and is not self-limiting.
M.E.D. is usually treated symptomatically but if function or appearance are sufficiently affected. surgery in the form of osteotomies to hip or knee is available. It must be noted however that surgical corrections made in early life are likely
to recur if they are needed before the end of growth, Hydrotherapy can be helpful to relieve symptoms and reduce disability, as can the use of anti-inflammatory drugs.
Painful episodes in the hip may need treatment by way of bed-rest or traction, and many sufferers find the use of a wheelchair for long distances helps to avoid “flare ups”. In severe cases osteoarthritis is inevitable and hip arthroplasty is likely in early adult life.
Occasionally surgery to the hands may be necessary to improve grip, or to the elbows to increase rotation.
An excerpt from A Layman’s Guide to Osteochondritis published by Perthes Association *Copyright Perthes Association 2001*
Professor R G Burwell, Professor W G Sharrard & MR. A Moulton F.R.C.S.