You are in: eMedicine Specialties > Orthopedic Surgery > KNEE Blount DiseaseArticle Last Updated: Nov 18, 2008AUTHOR AND EDITOR INFORMATIONAuthor: Matthew J DeOrio, MD, Staff Physician, Department of Orthopedic Surgery, Mayo Clinic of Rochester Matthew J DeOrio is a member of the following medical societies: American Medical Association and Florida Medical Association Coauthor(s): James K DeOrio, MD, Director of Foot and Ankle Fellowship Program, Assistant Professor of Orthopedic Surgery, Orthopedic Surgery, St. Luke's Hospital, Jacksonville, Florida Editors: Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine; Thomas M DeBerardino, MD, Director, John A Feagin, Jr, Sports Medicine Fellowship at West Point, Associate Professor of Orthopedic Surgery, Uniformed Services University of the Health Sciences and Keller Army Community Hospital; Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital; Carlos J Lavernia, MD, FAAOS, Adjunct Clinical Professor, Department of Orthopedic Surgery, University of Miami School of Medicine; Medical Director, Orthopedic Institute at Mercy Hospital Author and Editor Disclosure Synonyms and related keywords: Blount's disease, Blount disease, osteochondrosis deformans tibiae, tibia vara, idiopathic tibia vara, infantile tibia vara, juvenile tibia vara, adolescent tibia vara, knee pain INTRODUCTIONBlount disease is an uncommon growth disorder characterized by disordered ossification of the medial aspect of the proximal tibial physis, epiphysis, and metaphysis. This progressive deformity is manifested by varus angulation and internal rotation of the tibia in the proximal metaphyseal region immediately below the knee. The natural history of this disease leads to irreversible pathologic changes, especially at the medial portion of the proximal tibial epiphysis because of growth disturbances of the subjacent physis.1
In 1922, Erlacher described the first case of tibia vara. However, Blount's article in 1937 prompted the recognition of this disorder. Blount presented a series of 13 new cases and reviewed the 15 cases in the literature.5 He delineated the similarities between infantile and adolescent tibia vara and emphasized the differences in their etiology. Because he was the first to identify the similar clinical, radiographic, and pathologic characteristics of the cases in the literature, the disease has become associated with Blount. 6 Tibia vara and osteochondrosis deformans tibiae are two other terms that have been used to describe the deformity of Blount disease. Blount suggested the anatomic term tibia vara, which is the generally accepted term.5 However, the term does not identify the specific location of the abnormality, nor does it indicate the etiology of the disease. The term osteochondrosis deformans tibiae is not accurate because it describes a disorder in which the primary or secondary centers of ossification undergo avascular necrosis.6 Avascular necrosis has never been found in either form of Blount disease.7 Hence, Blount disease and tibia vara continue to be the most commonly accepted terms for the disease. ProblemDisordered growth of the proximal medial physis, epiphysis, and metaphysis of the tibia results in a progressive varus deformity below the knee. FrequencyThe estimated prevalence of infantile Blount disease in the population of young children with significant bowlegs in the United States is 0.007, or less than 1%; the prevalence of adolescent Blount disease may reach 2.5% in the population at greatest risk (see image below).8, 9 The exact frequency in persons of all ethnicities is unknown and most likely is less than 1%. In addition to race and body weight, the frequency is increased if other family members have been diagnosed as having Blount disease.10, 11 EtiologyThe cause of Blount disease remains controversial, but it is most likely secondary to a combination of hereditary and developmental factors. Biomechanical overload of the proximal tibial physis due to static varus alignment and excessive body weight have been implicated in the etiology of infantile tibia vara. The compressive forces at the medial aspect of the knee appear to cause growth suppression. Although similar processes may be implicated in the development of adolescent tibia vara, static varus alignment is not a prerequisite.12 Dynamic gait variation secondary to increased thigh girth has been suggested to be implicated in the development of adolescent Blount disease.12 A number of authors have noted a positive family history of Blount disease in some affected individuals. Data supporting inheritance are limited but worthy of mention. Sevastikoglou and Eriksson based this contention on the finding of 4 persons with tibia vara in the same family, of whom 2 were identical twins.11 Schoenecker et al also found a positive family history in 14 of 33 patients.10 However, no direct proof of a genetic relationship has been discovered. PathophysiologyBlount disease most likely is caused by a combination of excessive compressive forces on the proximal medial metaphysis of the tibia and altered endochondral bone formation.5, 13, 14 It is unclear whether the deformity is caused by an intrinsic alteration of bone formation that is exacerbated by compressive forces or by compressive forces that cause a disruption in normal endochondral bone formation. Weight bearing must be necessary, since the disease does not occur in nonambulatory patients.15 Cook et al correlated epidemiologic and histologic findings in a model that provided evidence for the role of biomechanical overload in the pathogenesis of infantile tibia vara. They analyzed static single-limb stance in children and determined that 10° and 20° varus deformities, in children aged 2 years and 5 years, respectively, could generate compressive forces adequate to retard growth of the medial tibial physis.15 The combination of mechanical and biologic factors in tibia vara most likely impacts the disease to varying extents. Furthermore, excessive physiologic bowing often is found in individuals with the infantile form of the disease. It is known that epiphyseal compression inhibits physeal growth (the Heuter-Volkmann law) and distraction stimulates growth.16 Delpech demonstrated this stimulation by showing that release of abnormal pressure from a physis causes increased vertical growth.16 Such compressive forces cause a relative inhibition of growth of the medial portion of the proximal tibial physis, as compared with the lateral portion. It is also known that damaged cartilage ossifies more slowly.17 Histologic sections of cartilage in the infantile form show damaged cartilage. If the cartilage on the medial aspect of the plateau is damaged, ossification is delayed on the medial side of the tibia compared with the lateral side. The result is a progressive varus angulation below the knee and an increase in the compressive forces on the physis, which changes the direction of the weightbearing forces on the upper tibial epiphysis from perpendicular to oblique. The obliquity of this force tends to displace the tibial epiphysis laterally. The trabecular pattern of the metaphyseal region in the tibia curves medially to align itself to the deviation of the stress.18 Many authors believe that disease progression is the result of this cycle of growth disturbance, varus deformity, and further growth disturbance.7, 13 Distal femoral valgus or varus deformity and/or distal tibial varus or valgus deformities also can occur in conjunction with tibia vara.19 Whether these occur as compensatory mechanisms or are due to intrinsic factors of Blount disease is unknown. These deformities should be corrected at the same time the tibial vara deformity is corrected. Histologic specimens from the medial tibial condyle in the infantile form of the disease show changes principally in the zone of resting cartilage in the proximal tibial physis. These changes consist of (1) islands of densely packed cells that exhibit a greater degree of hypertrophy than would be expected from their topographical location, (2) islands of almost acellular fibrous cartilage, and (3) abnormal groups of capillary vessels. 13 The pathogenesis of the adolescent form of the disease remains less clear than that of the infantile form. Some authors consider the 2 forms to have similar pathophysiology, while other authors consider them to be separate entities. Adolescent Blount disease does not appear to be as progressive or as common as the infantile form. Factors such as injury or infection of the physis have been suspected to play an etiologic role; however, most patients have no history of trauma or infection, leading many authors to discount them as the only possible causes.5, 7, 20, 21 ClinicalThe clinical presentation of the different types of tibia vara varies according to the age of onset. In infantile tibia vara, children generally start to walk early, usually when aged 9-10 months.13 At the onset of the disease, differentiating between early infantile Blount disease and marked physiologic bowlegs is difficult. Physiologic genu varum is a common torsional deformity that occurs secondary to normal in utero positioning. The tight posterior hip capsule causes an external rotation of the thigh at the hip. When combined with internal tibial torsion, the resulting appearance is a varus deformity. This physiologic deformity usually resolves spontaneously by the time the child is aged 2 years. In contrast to physiologic genu varum, infantile Blount disease can progress to severe deformity. The infantile form is generally more prevalent in females, blacks, and those with marked obesity. It is associated with a prominent metaphyseal beak, internal tibial torsion, and leg-length discrepancy; involvement is bilateral in approximately 80% of cases.18 The metaphyseal prominence, or beak, may be palpable over the medial aspect of the proximal tibial condyle. Patients usually do not complain of pain. However, the deformity of the lower extremity can be quite pronounced.5, 6, 10 In contrast, patients with adolescent tibia vara usually complain of pain at the medial aspect of the knee. These patients are typically overweight or obese. In contrast to infantile tibia vara, involvement is unilateral in 80% of cases; the involved leg sometimes is shorter than the opposite leg by as much as 2-3 cm. The degree of varus deformity usually is not as severe as in individuals with the infantile form and usually does not exceed 20°.18 INDICATIONSIndications for operative treatment include increasing severity of symptoms or progression of deformity. RELEVANT ANATOMYFor direct exposure for osteotomies on the medial aspect of the knee or pin fixations, surgeons must be aware of the location of the infrapatellar branch of the saphenous nerve. On the lateral side, it is the course of the peroneal nerve around the fibula that deserves attention. One must be aware that lengthening or shortening procedures can cause injury to the anterior tibial artery. Avoidance of injury to the neurovascular structures is paramount in obtaining a good result. Osteotomies in the epiphyseal or metaphyseal region of the proximal knee must necessarily avoid the epiphyseal plate in the growing child to prevent premature closure. It is important to remember that the epiphyseal plate is often "V" shaped, with the apex pointing inferiorly in the proximal tibia and superiorly in the tibia. CONTRAINDICATIONSSurgical intervention is contraindicated in children who are younger than 2 years because it is difficult at this age to differentiate between Blount disease and excessive physiologic bowing that may resolve spontaneously. In patients with adolescent Blount disease, surgical intervention is recommended only when the patient complains of pain associated with the deformity. WORKUPLab Studies
Imaging Studies
Histologic FindingsIn the infantile form, bone changes include delayed ossification of the medial epiphysis and metaphysis of the proximal tibia.6 In all stages of the disease, histologic specimens from the zone of resting cartilage in the medial part of the proximal tibial physis have well-defined pathologic changes, as described in Pathophysiology. These consist of (1) islands of densely packed cells exhibiting more hypertrophy than expected on the basis of their position in the growth plate, (2) islands of fibrocartilage that are nearly acellular, and (3) abnormal groups of capillary vessels. No avascular necrosis of bone or inflammation has been demonstrated.5, 13, 18, 21 StagingLangenskiöld classified infantile tibia vara into 6 progressive stages, based on the degree of metaphyseal-epiphyseal changes observed on the radiograph. Severity of disease is based on the Langenskiöld stage and the age of the child.17, 21, 22 TREATMENTMedical therapyTreatment depends on the age of the child and the severity of the varus deformity. Nonoperative treatment In a child older than 2 years, orthotic treatment can be used when the deformity is increasing or if the child has a tibiofemoral angle greater than 15°, a metaphyseal-diaphyseal angle of greater than 11°,23 and a metaphyseal-epiphyseal angle of 25-30°.18 Ambulatory daytime bracing using an above-the-knee brace with a free ankle may favorably alter the natural history of patients with tibia vara who are younger than 3 years and who have Langenskiöld stage I or II deformity, because the deformity is often reversible at these stages.24 Nonetheless, documentation of the effectiveness of bracing is difficult because tibia vara can resolve spontaneously. If the deformity persists or increases to stage III or IV with daytime brace treatment, osteotomy is required. If possible, it is preferable to perform the osteotomy before the child is aged 4 years to prevent recurrence.25 If deformity is severe (ie, Langenskiöld stage V or VI), operative correction is essential. Orthotic devices are ineffective in controlling the varus deformity in adolescents, and the treatment is surgical. Surgical therapySurgical approaches for infantile Blount disease If the deformity does not improve with orthotic treatment and the disease progresses radiographically to advanced stage II or stage III deformity, surgical correction should be performed. Furthermore, surgery is recommended for a deformity that is increasing in severity and disabling the child, or if the child has a tibiofemoral angle greater than 15°, a metaphyseal-diaphyseal angle greater than 14°, and a metaphyseal-epiphyseal angle greater than 30°. Absolute indications for surgery are depression of the tibial plateau, impending closure of the medial physis of the upper tibia (stage IV), and ligamentous laxity of the knee.18 Osteotomy has been the most frequently used form of surgical management.6 Many different types of osteotomies have been described in the literature, including opening and closing wedge, spike, dome, and oblique osteotomies.22, 26, 27 In the more skeletally mature individual, the valgus osteotomy can be carried out through the physeal scar. However, it is important to remember that in the younger child, the osteotomy must be carried out below the insertion of the patellar ligament because the proximal tibia physis is still open.7 Surgical approaches for adolescent Blount disease In individuals with adolescent tibia vara, observation is indicated when the deformity is not progressing, not causing severe deformity, and not disabling the patient, because spontaneous regression has been reported.5, 17 Surgical treatment depends on the stage of the disease and the skeletal age of the child. Many surgical procedures have been described for treating adolescent tibia vara with disease progression, including proximal tibial osteotomy, hemiepiphysiodesis, asymmetric physeal extraction, and external fixation with distraction osteogenesis.9, 20, 28, 29, 30, 31 As in the infantile form, osteotomy remains the most common method of treatment.6 If adolescent tibia vara is recognized early with a physeal bony bridge and minimal deformity, then it may be excised and spacer material, such as fat, inserted. When disease is moderate to severe, a more extensive procedure is indicated. For girls older than 11-12 years or for boys older than 13-14 years, remaining growth is minimal, and physeal bony bridge resection is meaningless.18 A second option is osteotomy through the growth plate to elevate the medial epiphysis, and a contralateral epiphysiodesis. This approach relies on the growth of the injured medial physis, and results have been unpredictable, with up to 40% of patients requiring additional surgery to improve alignment.9 The third option is proximal tibial osteotomy below the physis so that the tibia is realigned mechanically. This option requires the presence of spontaneous bridging and early closure of the medial part of the proximal tibial physis, an opening of the lateral part of the tibial, and near completion of skeletal growth. Intervention consists of epiphysiodesis of the lateral sides of the tibia and proximal fibula, and valgus opening wedge osteotomy of the proximal tibia and fibula.18 Unfortunately, in some individuals with adolescent Blount disease, there is shortening of the involved extremity that cannot be resolved by simple angular correction of the deformity.32 De Pablos has advocated another technique. He treated a group of adolescent patients with asymptomatic bilateral tibia vara with asymmetric physeal distraction, demonstrating improvement in limb alignment and uniform closure of their physes.20 The most appropriate indication for this technique is late-onset disease, or adolescent Blount disease with or without partial closure of the medial aspect of the proximal tibial growth plate (£50%) and no severe deformity of the proximal tibial epiphysis. Asymmetrical physeal distraction should not be used for infantile forms of Blount disease; it is indicated only in the adolescent who is near skeletal maturity. External fixation has provided promising results in adolescent Blount disease (see Image below).29, 30, 31 Coogan et al prefer the use of a circular external fixation device and distraction osteogenesis instead of proximal tibial osteotomy and lateral hemiepiphysiodesis.29
Their results demonstrate that distraction osteogenesis with an external fixator provides consistent correction of tibial deformities in these patients, with minimal morbidity. Correction was associated with significant improvement in symptoms and a high degree of patient satisfaction. They acknowledge disadvantages, which include the need for patient compliance in the operation of the device, potential pin fixation complications, and the possible need for a second anesthesia for device removal. Postoperative detailsIn the postoperative period, carefully observe the neurovascular status for compromise, as this is a potential hazard. Compartment syndromes must be recognized and treated early. Fortunately, the gradual correction of dynamic external fixators make this less likely. Follow-upIn general, when osteotomy with internal fixation is performed, the osteotomy heals in 8 weeks. If enough callus is present to prevent change or loss of position, the cast is removed 5-6 weeks postoperatively. An above-the-knee cast is then applied with the knee in full extension and the foot and ankle free, allowing gradual partial to full weight bearing.18 Continuing follow-up care after initial surgical correction of the varus deformity is necessary because of the risk of recurrence. Infantile tibia vara has a good prognosis and recurrence of deformity is low when treated at a young age and early stage. However, older patients with advanced deformity (ie, stages IV-VI) are at increased risk of recurrence.25 With the use of external fixators and distraction osteogenesis, gradual angular manipulation is begun 1 week after application of the external fixator and osteotomy. The correction takes place over the subsequent 2-3 weeks, depending on the severity of the deformity. After angular correction is achieved, the external frames are stabilized using additional threaded rods. The frames are generally removed 12 weeks postoperatively.29 COMPLICATIONSComplications associated with the treatment of Blount disease include loss of alignment, vascular impairment, pathologic fractures, wound infection, and malalignment.29, 34 OUTCOME AND PROGNOSISIn long-term follow-up of infantile tibia vara, Doyle et al found that the outcome depends on the patient's age and severity of deformity at the time of intervention.25 An understanding of the natural history of Blount disease is important for treatment. The prognosis in the infantile form of Blount disease must be considered separately from that in the adolescent form. Untreated infantile tibia vara is believed to be progressive. The literature has shown that partial or complete regression may occur in stages I-IV; however, stages V-VI do not show regression.25 FUTURE AND CONTROVERSIESData on long-term follow-up of Blount disease are limited, and it is still unclear whether this limb abnormality predisposes patients to development of arthroses.1, 10, 25 With advances in treatment, retrospective studies on different treatment groups may show whether progression to arthrosis is a significant concern. MULTIMEDIA
REFERENCES
Article Last Updated: Nov 18, 2008 | ||||||||||||||||||||||||||||||||||||||||