MULTIPLE EPIPHYSEAL CHONDRODYSPLASIA: THE FEATURES OF PRIMARY HIP JOINT REPLACEMENT

Milyukov A.Yu., Gilev Ya.Kh., Ustyantsev D.D., Milyukov Yu.A.

Regional Clinical Center of Miners’ Health Protection, Leninsk-Kuznetsky, Russia
Novosibirsk Research Institute of Traumatology and Orthopedics named after Ya.L. Tsivyan, Novosibirsk, Russia

 MULTIPLE EPIPHYSEAL CHONDRODYSPLASIA: THE FEATURES OF PRIMARY HIP JOINT REPLACEMENT

Objective – to determine the features of primary hip joint replacement in patients with familial multiple epiphyseal chondrodysplasia.

MATERIALS AND METHODS

The follow-up included a family of three adult close relatives: a woman, the head of the family, age of 51, and her adult children: the son, age of 31, and the daughter, age of 27, who suffer from a familial genetic disease – multiple epiphyseal chondrodysplasia. The diagnosis was verified with amnestic, clinical, radiologic and morphological methods of the examination. All patients received the bilateral total hip joint replacement at different time points.

RESULTS AND DISCUSSION

Multiple epiphyseal chondrodysplasia (MECD) is a familial genetic disease with mainly autosomal dominant type that characterized by disordered enchondral ossification that manifests itself as short stature, joint stiffness, pain and deformed extremities. It is a rare systemic disease in the group of epiphyseal dysplasia. The birth rate of children with MECD is 1.5 per 5,000 infants [1]. The underlying cause of multiple epiphyseal chondrodysplasia is a defect of the center of ossification of epiphyses. A cartilage develops normally, but the processes of ossification and formation of chondral cavity are disordered. Clinically, MECD is identified similarly in patients of both genders at the age more than 8-9; therefore, it is related to the late form of dysplasia [2, 3].
In 1912, an English doctor Barrington-Ward (London Pediatric Hospital) published his article “Bilateral coxa vara in a brother and a sister in combination with other deformations” in the Lancet journal. М. Jansen (1934) observed a case of such disease and described it as the atypical form of achondroplasia, and determined it as metaphyseal dysostosis. During a long time, MECD was considered as the atypical form of achondroplasia (chondrodystrophy) or (more often) as multiple chondropathy (Parrot disease). Т. Fairbank offered the term multiple epiphyseal chondrodysplasia in 1974. The disease was named after him – Thomas John Fairbank (1912-1998) – an English surgeon-orthopedist, a son of a legendary surgeon-orthopedist Harold Arthur Thomas Fairbank (1876-1961). He found out that deformation of epiphyses is a rare genetic condition with streakiness and abnormality of density and the shape of several developing epiphyses [4, 5, 6]. In different years, the disease was described in Russian literature by some authors: V.A. Dyachenko, N.V. Novikov, M.V. Volkov, M.A. Kovalev [3, 7, 8].
Early differential diagnostics of dysplasia gives some serious difficulties owing to the similarity of the clinical picture and absence of clear radiologic diagnostic criteria [9, 10].
The skeleton of an infant consists of approximately 270 bones as compared to adult skeleton (200-210 bones), considering the individual features. It is explained by the fact that the child’s skeleton has some small bones that grow into big ones over time. The femoral bone is the longest bone of the skeleton, the small one is the stapes in the middle ear. Another feature of the infant’s skeleton is the absence of patellas, which appears only at the age of 2-6 (Fig. 1) [11].

Figure 1. The X-ray image of the newborn


MECD affects mainly the epiphyses of the long bones, and the primary defect (with chondrogenesis abnormality) appears in the central region (ossific nucleus) of the cartilaginous part of the epiphysis, where calcification, ossification and development of bone structures are initiated [12, 13]. The progression of the process stops after closure of the growth zones. However, the deformation of the epiphyses determines the functional inferiority of the joints and very early development of coxarthrosis that intensifies with aging [14, 15].
The whole epiphysis is fragmented, mushroom-shaped, with fragments of various sizes, shapes and unsmooth mergence (Fig. 2).

Figure 2. Intrasurgical gross specimens of the femoral bone


 

The epiphyses acquire the incorrect and angular shape, with unsmooth and fringy contours. The physeal zones are involved secondarily. They are tortuous, with unsmooth contours. The joint spaces are extended nonuniformly. The changes in each joint have some specific distinctions, despite of the uniform general picture. The hip joints with the normal shape of the pelvis can demonstrate the acetabulum with flatness, oblique acetabular roof and unsmooth densified and loosened structure. Along with the changes in the head and the great trochanter, one can observe the shortening femoral neck and decrease in the neck-shaft angle, resulting in a deformation of coxa vara type. The knee joints demonstrate the similarly changed epiphyses of the femoral and tibial bones. In the ankle joint, the block of the talus deforms in a greater degree (Fig. 3).

Figure 3. The X-ray image of the big joints of the lower extremities of the man (age of 25) with multiple epiphyseal chondrodysplasia (2005)

The treatment of epiphyseal dysplasia is one of the most difficult tasks in orthopedics. The protracted conservative treatment (remedial gymnastics, massage, physiotherapeutic management) partially arrests the pain syndrome and supports the amplitude of movements in the joints, but it does not prevent the deformity of the epiphyses. The generally accepted surgical management is the interventions for soft tissues for correction of the available contractures and decompression of the hip joint. In further years, the repeated surgery for recurrent contractures is possible, i.e. correcting osteotomy of the hip in combination with tenotomy, myotomy, capsulotomy and fasciotomy [16, 17]. Total hip joint replacement is a surgery of choice for the age of 18-20 [18, 19, 20]. However the previous surgical interventions and multiplanar iatrogenic deformation of the proximal femur present the problem for placement of the endoprosthesis and its further functioning [21-25].
During the period of our follow-up for the close relatives (mother, son and daughter), we carried out the operations: subsequent total replacement of both hip joints (Fig. 4, 5, 6).

Figure 4. The patient P. (the son), had the surgery at the age of 31 and 32, 2011. The right. WRIGHT: cup 56, neck short, head 50, 2012. The left. WRIGHT: cup 48, neck short, head 42, stem 4



Figure 5. The patient P. (the head of the family), had the surgery at the age of 51 and 52, 2012. The right. DePuy: cup 52 pinnacle, marathon polyt., head 36\+4 met, stem 12, 2011. The left.WRIGHT: cup 50, neck short, head 44, stem 3



Figure 6. The patient P. (the daughter), had the surgery at the age of 27 and 28, 2015. The right. ESI: cup 48, chirulen, stem 1, head 28\M., 2016. The left. ESI: cup 48, chirulen, stem 1, head «Biser» ceram. 28\M.


 

Two members (mother and daughter) of the family received the correcting osteotomy of the hip in combination with tenomyotomy in their childhood.
The most evident anatomic and biomechanical aspects of the pathologic process development included the discongruence of artificial surfaces, muscular disbalance, and disorder of axial relationships in both the joint and the extremity. One should note that the joint discongruence was not a problem owing to choosing a model, a type of the friction pair and the size of the prosthesis, but the problem of muscular disbalance and disorder of axial relationships could make the efforts of the surgery senseless. We faced the problem immediately during the first surgery for the young man (the son, age of 31) in 2011. Under spinal anesthesia, with use of low invasive approach and without crossing any muscles, the implantation of the right hip joint was performed with the model WRIGHT: cup 52, stem 3, neck long 8 gr., head 28-0 med. Under anesthesia, immediately before the surgery, the passive motions in the joint were performed. During 70-80° flexion of the joint, a feeling appeared that the rotation movement was slightly transforming into shifting. After implanting the endoprosthesis, the intrasurgical control determined the full range of motions and absence of trends of subluxation and dislocation. The endoprosthesis dislocation appeared within the following days after the patient activation with increasing range of active movements in the operated extremity. The situation required for rethinking. We will not intrigue our readers – the explanation was quite simple owing to recurrent investigation of the functional anatomy “Lower Extremity. Functional Anatomy” by A. Kapandji, 2010 [26]. The situation we met in the surgery room can be explained by Kapandji effect: the motional function of the joint muscles, having three degrees of freedom, varies in dependence on its position, i.e. their secondary function can alter or become reverse. The clinical testing of our patient showed that in case of hip flexion of 90° the gluteus minimus muscle performs the function of internal rotator and becomes the adductor along with musculus tensor fasciae latae. The final movement, which is realized by these muscles at that moment, has three components: flexion, adduction, and internal rotation resulting in hip dislocation. As for passive movement, despite of flexion amplitude reaches 120 degrees, the resultant movement of these muscles is absent, as well as a clinical sign of dislocation.
Considering all above mentioned facts, we took this effect into account and combined the implantation with directed partial myo- and tenotomy that provided the good functional results.

CONCLUSION

The disorders of anatomic and functional relationships in the joints, the changes in postural balance in patients with multiple epiphyseal chondrodysplasia, and previous multiplanar iatrogenic surgical osteotomies for the proximal hip require for proper presurgical planning, individual technique of implantation of the prosthesis and intrasurgical correction of functional anatomy in each patient. The disregard of the above-mentioned facts can cause some problems in implanting the endoprosthesis and its further functioning.

Information about financing and conflict of interests:
The study was conducted without sponsorship.
The authors declare the absence of clear and potential conflicts of interests relating to the publication of this article.

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