Osteoarthritis Associated With Osteopetrosis
Treated by Total Knee Arthroplasty
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Report of a Case
F. JAFTE, M.D.,
ANDREWM. CASDEN, M.D., FREDRICK DONALD M. KASTENBAUM, M.D.,
AND SALLY FIONABONAR, M.B., M.R.C.P.1.
Osteopetrosis is due to a defect in osteoclastic cell
function and results in osteosclerosisand progres-
sive obliteration of the marrow spaces. Early onset
osteoarthritis is associated with osteopetrosis.
The authors describe a case of early onset os-
teoarthritis associated with osteopetrosis treated
by total knee arthroplasty. The marblelike quality
of osteopetrotic bone makes surgical treatment of
these patients technically challenging and
requires modification of standard surgical
technique.
Osteopetrosis or Marble-Bone Disease was
first described in I904 by Albers-Schonberg.'
Two extreme forms of osteopetrosis have
since been described, a malignant fatal form
inherited as an autosomal recessive and a
more benign form inherited as an autosomal
dominant. The skeletal lesions are secondary
to a defect in bone remodeling due to mal-
function of osteoclasts." Shapiro et al."
have demonstrated that these cells lack the
ultrastructural characteristics of actively re-
sorbing osteoclasts. The failure to resorb cal-
cified cartilage and bone leads to osteoscle-
rosis and progressive obliteration of the mar-
row spaces. Orthopedic manifestations of the
autosomal dominant form include patho-
From the Hospital for Joint Diseases Orthopaedic In-
stitute, New York, New York.
Reprint requests to Fredrick F. Jaffe, M.D., 401 E.
55th St., New York, NY 10022.
Received: April I , 1987.
202
logic fractures, due to the brittle quality of
the bone mandibular osteomyelitisand early
osteoarthritis. Roentgenographicfindings in-
clude uniformly increased density of bone
without any recognizable distinction be-
tween cortex and medullary cavity, broad-
striped appearance of the vertebrae, bone
within bone appearance in carpal bones, and
transverse and longitudinal striations seen at
the metaphyseal ends of long bones.
This case report describes total knee
arthroplasty in a patient with early onset os-
teoarthritis associated with osteopetrosis.
The technical problems encountered in the
surgical treatment of patients with osteope-
trosis, as well as a possible association be-
tween osteoarthritis and osteopetrosis, are
discussed.
CASE REPORT
The patient is a SO-year-old black Jamaican
woman who had the diagnosis of benign autoso-
ma1 dominant osteopetrosis made at age 1 I . At
age 25, she had a fusion of her left hip in Jamaica.
She continued to have pain in both hips and
knees, and at age 4 1 roentgenograms revealed se-
vere degenerative arthritis of the right hip, a failed
fusion of her left hip, and osteopetrosis. There was
great concern about the biomechanical soundness
of the bone in the presence of a cemented femoral
stem; although total hip arthroplasty had been
contemplated. it was dismissed as a consideration.
Therefore, she was treated with resection arthro-
Number 247
October. 1989 Osteoarthritis and Osteopetrosis 203

FIG.1. Anteroposterior (AP) pelvic roentgenogram 25 years postoperatively for a failed arthrodesis of
left hip and nine years postoperatively for an excisional arthroplasty of the right hip. Note the broad-
striped appearance of vertebrae typical of osteopetrosis.

plasty of the right hip with significant relief of her
pain (Fig. 1). The femoral head demonstrated os-
teopetrosis and changes consistent with os-
teoarthritis.
The patient sought treatment again at age 48
with significantly increased left knee pain. Opera-
tive arthroscopy revealed medial and lateral com-
partment Grade 111 chondromalacia of both the
femoral and tibial articular surfaces and hypertro-
phic synovitis. Roentgenograms revealed osteo-
petrosis and osteoarthritis with joint space nar-
rowing and osteophyte formation (Fig. 2). A
shaving chondroplasty and partial synovectomy
were performed. Despite transient improvement
in her symptoms, her left knee pain increased sig-
nificantly. She required two canes for ambulation
and had pain at rest and at night. Physical exami-
nation of the left knee revealed 5" of valgus and
painful 0"-90" of motion with crepitus. There
was no varus or valgus instability. The left hip
demonstrated 0"-30" of flexion. At age 50, the
patient was treated with a left total knee arthro-
plasty with a Total Condylar 1 prosthesis (John-
son & Johnson, New Brunswick, New Jersey; Fig.
3). At surgery the bone was noted to be extremely
dense and difficult to osteotomize. The oscillating
saw had to be frequently cooled, and accurate
placement of the cutting jigs was difficult. The
tibial peg trough had to be created with the saw.
Gross examination of the femoral condyles and
tibial plateau showed fibrillation and thinning of
the articular cartilage, peripheral osteophytes, and
markedly increased density of bone beneath the
immediate subchondral area (Fig. 4). A roentgen-
ogram of the gross specimen revealed a subchon-
dral band of more normal-appearing bone and the
dense osteopetrotic bone in the area immediately
below (Fig. 5). Histologic examination confirms
the persistence of primary spongiosa without nor-
mal remodeling into adult bone consistent with
osteopetrosis (Fig. 6A). Also seen are secondary
osteoarthritic changes, including loss of articular
 Clinical Orthopaedlcs
204 Casden et al. and Related Research

Torre4 recently reported on the technical dif-

ficulty of inserting Steinmann pins across a
fractured femoral neck in a child with osteo-
petrosis. They required the alternating use of

FIG. 2. AP roentgenogram of left knee demon-

strating marked increase in bone density, joint
space narrowing, and osteophyte formation con-
sistent with the diagnosis of osteoarthritis and os-
teopetrosis.

cartilage and osteophyte formation (Figs. 6B and

6C). The patient is now two years postsurgery and
has a painless left knee range of motion of0"-80".
She does ambulate with a cane because of left hip
pain.

DISCUSSION
The difficulty in the surgical treatment of
patients with osteopetrosis is well illustrated
by this case report. The technical problems
encountered with the use of internal fixation
devices in osteopetrotic bone have been pre-
viously des~ribed.~.~.' Milgram and Jasty' FIG.3. Two-year AP postoperative roentgeno-
noted the difficultyin inserting internal fixa- gram of the left knee. Note the paucity of cement
penetration surrounding both the femoral and tib-
tion devices (intramedullan r d Halt ial components, The roentgenogram also demon-
and Richards screwplate) in three adult Pa- strates the widened metaphyseal region (Erlen-
tients with femoral fractures. Greene and meyer flask) typical of osteopetrosis.
Number 247
October. 1989 Osteoarthritis and Osteopetrosis 205

FIG.4.Irregularity, thinning, and focal loss of articular cartilage are noted, predominantly in the lateral
tibia1 plateau and lateral femoral condyle. Peripheral osteophyte formation is present. The immediate
subchondral bone is more normal in appearance (white arrow) and the bone immediately beneath it is
markedly increased in density (black arrow).

three power drills and described the proce-
dure as similar to drilling in rock. Janecki
and Nelson' and Cameron and Dewar3com-
mented on the problems encountered in
total hip arthroplasty in osteopetrotic bone.
In both cases, the femoral canal was nar-
rowed and the hand reamers could not be
used; power reamers were used with diffi-
culty. Cameron and Dewar3 were forced to
shorten the femoral stem to get the prosthesis
seated in the femoral canal on both sides of
bilateral, staged total hip arthroplasties.
Total knee arthroplasty przsents similar
technical problems in patients with osteope-

FIG.5. Roentgenogram of the specimen. The band of more normal-appearing subchondral bone is
better illustrated (white arrow). This lucent subchondral area consists of a small zone of more trabecular
bone with active hematopoietic tissue (see Fig. 6B). The area of increased bone density consistent with
osteopetrosis is clearly defined (black arrow),.

206 Casden et al.
trosis. The osteotomies are difficult to make.
Oscillating or reciprocating saws should be
used exclusively in place of osteotomes and
chisels, so as not to fracture the brittle bone.
It may be difficult to secure the jigs to bone
with pins, and cuts may have to be done
freehand. The lack of cancellous bone re-
quires meticulous cementing technique to
achieve secure fixation.
Osteopetrosisis primarily a disease.of bone
and does not involve the articular cartilage.
However, early onset osteoarthritis of both
the hips and knees as demonstrated in this
case has been reported in patients with
osteopetrosis without associated defor-
mity.4*6.7*''Of interest in this case is the band
of more normal-appearing bone in the im-
mediate subchondral area with the osteope-
trotic bone just below it (Figs. 4-6C). This
-0
Clinical
and Related Research
FIGS.6A-6C. (A) This histologic section shows
the persistence of primary cartilage trabeculae
with irregular peripheral ossification. Osteoclasts
are not seen. The tissue resembles primary spon-
giosa that has failed to undergo remodeling into
adult bone and is consistent with osteopetrosis.
The persistence of this calcified cartilage has oblit-
erated the hematopoietic marrow. (B) This sec-
tion shows loss of articular cartilage over tidemark
(short arrow) with cellular hematopoietic marrow
in the immediate subchondral area (long arrow)
and underlying osteopetrotic bone (double
arrow). (C) Photomicrograph demonstrating os-
teophyte formation overlying prior articular sur-
face and tidemark (arrow). (Stain, hematoxylin
and eosin; original magnification, X 160 in A, X63
in B and C).
may be due to a decrease in the severity of
the disease later in this patient's life. Total
hip arthroplasty has been performed on pa-
tients under 45 years of age with osteope-
trosis and o~teoarthritis.~*~The association
between early onset osteoarthritis and osteo-
petrosis remains unclear. Radin et aL9 dem-
onstrated through in vifro analysis of meta-
tarsophalangeal joints of adult cows that
stiffening of the underlying subchondral
bone with methylmethacrylate significantly
increased cartilage wear. Radin et a1.' theo-
rized that repetitive impulsive loading of
joints caused trabecular microfractures in
the underlying subchondral bone and that
healing resulted in increased stiffness and
decreased shock-absorbing capacity in the
bone, the end result being cartilage break-
down and joint degeneration. Through a
Number 247
October. 1989
similar mechanism, the increased density of
the subchondral bone in osteo~trosismay
be responsible for the early degenerative os-
teoarthritis seen in these patients.
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