Blount Disease

Blount disease is a developmental disorder characterized by disordered

growth of the medial aspect of the proximal tibial physis resulting in progressive
lower-limb deformity. Although it is also referred to as tibia vara (because the
varus coronal plane deformity is most distinctive), the disease usually results in a
multiplanar deformity of the limb. The deformity consists of varus, procurvatum,
and internal rotation of the tibia. This pattern is a result of the asymmetry of
disordered physeal growth most pronounced in the posteromedial aspect of the
proximal tibial physis. Blount disease can also be associated with a limb-length
discrepancy and, in some patients, deformity of the distal femur as well.

Relevant anatomy for this disease is that of the proximal tibia and its
surrounding structures. Structures at risk in this area on the medial side include
the saphenous nerve and its branches. On the lateral side, the peroneal nerve
courses around the neck of the fibula before dividing into deep and superficial
branches. When performing osteotomies or with pin insertion, these nerves, as
well as the anterior tibial artery and its recurrent branch, are at risk. With acute
correction of the varus deformity, medial-side structures are at risk for stretch
injury. Compartment syndrome is a risk, particularly with acute correction of
tibial deformity.

Pathophysiology

Blount disease most likely is caused by a combination of excessive

compressive forces on the proximal medial metaphysis of the tibia and altered
enchondral bone formation. 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.

The combination of mechanical and biologic factors in tibia vara most

likely influences the disease to varying extents. The mechanical forces
contributing to the disease are the weight of the child, age at walking, and the
varus deformity. In accordance with the Heuter-Volkmann principle, compressive
force across the medial femoral physis leads to growth retardation.

Damaged cartilage ossifies in a delayed fashion. As growth is selectively

inhibited at the medial side of the knee due to these compressive forces, a
resultant varus deformity progresses. The posteromedial aspect of the physis is
most suppressed, contributing to the procurvatum deformity also seen in the
disease. However, it is important to note that histologic changes are seen in the
entirety of the growth plate, but the medial side is most affected.

A dynamic component to the overload also has been described, due to the
large thigh girth of these patients. The resultant “fat thigh gait” has been
implicated as causing a varus movement on the knee contributing to medial
overload. 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.
In addition to the delayed growth of the physis, pressure on the adjacent epiphysis
leads to delayed ossification and intra-articular anomalies.

Many authors believe that disease progression is the result of this cycle of
growth disturbance, varus deformity, and further growth disturbance. Distal
femoral valgus or varus deformity and/or distal tibial varus or valgus deformities
also can occur in conjunction with tibia vara. 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 that the tibial
vara deformity is corrected.

Etiology

The disease has an increased incidence in overweight children who walk at

an early age. These findings have lead to theories that mechanical overloading of
the proximal tibia contributes to Blount disease. The mechanical overload of the
physis is attributed to obesity and varus deformity. However, mechanical factors
in isolation cannot cause the disease, given that the infantile form is often seen in
children with normal weight

An association between vitamin D deficiency and Blount disease has been

suggested, but an independent association between the two, without regard to
obesity, has not been proved.The disease has a genetic component as well, but a
direct pattern of inheritance has not been shown. Clearly, the etiology of Blount
disease is multifactorial and may differ in the early- and late-onset forms of the
disease.

Diagnosis-History and Physical Examination

The clinical presentation of Blount disease differs with early- and late-
onset disease. Those with early-onset disease present at age 1-3 years. Children
with early-onset disease often walk earlier than their peers, although this is
controversial. They present with varus deformity of the tibia and internal tibial
torsion. The presentation is more commonly bilateral but can be asymmetric.The
early stage of Blount disease can be difficult to distinguish from physiologic
bowing. Genu varum is a normal finding in children younger than 2 years. After
age 2 years, alignment migrates back to valgus, with peak valgus at around age 3
years. Physiologic bowing resolves, whereas Blount disease must be treated, with
nonoperative management playing a role in the early stages of disease.

The infantile form is generally more prevalent in African Americans and

may be associated with obesity. Children generally do not report pain, though they
can present with a significant deformity. The metaphyseal prominence, or beak,
may be palpable over the medial aspect of the proximal tibial condyle.In contrast,
patients with adolescent Blount disease usually present in late childhood or early
adolescence. Patients often report pain at the medial aspect of the knee. These
patients are typically overweight or obese. In contrast to the early-onset form of
the disease, involvement is more commonly unilateral, and patients also often
have abnormalities of the distal femur.
Imaging Studies

Radiographs of the knee are critical in assessing and staging the severity of
the deformity in Blount disease. On knee radiographs, characteristic changes
associated with Blount disease can be visualized. Such changes include the
following:

 Medial beaking of the epiphysis

 Widened irregular medial physis
 Irregular ossification
 Medial slope of the epiphysis and metaphysis in varus

Staging

Langenskiöld classified infantile tibia vara into six 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.

Only irregular metaphyseal ossification exists in disease stages I and II. In

these stages, infantile patients can potentially be managed nonoperatively; they
are also difficult to distinguish from children with physiologic bowing. As
patients progress beyond to stage III, there is significant deformity of the tibial
epiphysis and physis with fragmentation. Bar formation can occur in stage IV and
can progress to stage V, with disruption of the physeal cartilage. In stage VI, there
is significant depression of the articular surface and bar formation.

Treatment

Nonoperative treatment is an option in a select group of infantile Blount

disease patients. If they are diagnosed before age 4 years, knee-ankle-foot
orthoses (KAFOs) have a role in Langenskiöld stage I or II disease, especially
with unilateral involvement. Patient characteristics that predispose to failure of
conservative treatment include the following:
  Varus thrust
 Age older than 3 years
 Weight greater than 90th percentile
 Bilateral disease
 Langenskiöld grade higher than 3

In late-onset patients and early-onset patients in whom brace management

fails, operative intervention is indicated for increasing severity of symptoms or
progression of deformity.

Surgical intervention is contraindicated in children younger than 2 years

because it is difficult at this age to differentiate between Blount disease and
excessive physiologic bowing that may resolve spontaneously.

Conservative treatment can be an option in early-onset Blount disease and

consists of bracing. Brace therapy should be attempted in all children younger
than 2.5 years with stage I or II disease. Ambulatory bracing with an above-the-
knee orthosis has been shown to prevent progression of disease. Bracing has been
shown to correct both the varus deformity and the pathologic proximal-medial
tibial growth disturbance. If the disease continues to progress to stage III with
bracing, brace treatment will no longer be effective.

Other risk factors for failure of brace treatment include the following:

 Obesity
 Varus thrust
 Age older than 3 years at initial treatment
 Bilateral disease

Complications

Complications associated with the treatment of Blount disease can be

distinguished on the basis of whether they are complications of operative
treatment or complications associated with the disease itself. Operative
complications include the following:
  Vascular impairment
 Pathologic fractures
 Wound infection
 Malalignment

Complications of the disease include the following :

 Recurrence of deformity
 Joint degeneration, in the long term

Prognosis

In long-term follow-up of infantile tibia vara, Doyle et al found that the

outcome depended on the patient's age and the severity of deformity at the time of
intervention. 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. Infantile tibia vara
has a good prognosis, and recurrence rates of deformity are low when the
condition is treated at a young age and an early stage.

Untreated infantile tibia vara is believed to be progressive. Whereas partial

or complete regression may occur in the early stages of disease, later stages
continue to progress and eventually lead to joint degeneration. In the late-onset
form of the disease, regression does not occur and the varus deformity may
worsen over time. These patients may eventually develop sequelae as a result of
joint malalignment.

Data on long-term follow-up of Blount disease are limited, and further

studies are needed to characterize the relationship between the deformity and the
development of arthroses. Severity of deformity has been shown to correlate with
severity proximal tibial deformity, and poor outcomes appear to be related to the
degree of physeal damage. With advances in treatment, retrospective studies on
different treatment groups may show whether progression to arthrosis is a
significant concern.