The Journal of Arthroplasty Vol. 20 No.

6 2005

Case Report

Total Joint Arthroplasty in Patients with

Osteopetrosis: A Report of 5 Cases and
Review of the Literature

Justin P. Strickland, MD, and Daniel J. Berry, MD

Abstract: Osteopetrosis, an inherited disorder of bone metabolism, is associated with

multiple musculoskeletal complications. Two of these problems, osteoarthritis and
periarticular nonunions, may be considered for treatment with total joint arthro-
plasty. However, there is little information on the early and longer-term results,
complications, and technical difficulties related to performing arthroplasty in patients
with osteopetrosis. We report the results of 3 total hip arthroplasties and 2 total knee
arthroplasties in patients with osteopetrosis. These cases in combination with a
literature review provide further insight into results, complications, and technical
challenges of performing total joint arthroplasty in patients with osteopetrosis.
Key words: osteopetrosis, total joint arthroplasty, Albers-Schonberg disease.
n 2005 Elsevier Inc. All rights reserved.

Osteopetrosis is a rare inherited bone disorder
originally described in 1904 by Albers-Schonberg
[1], a German radiologist. Three forms of the disease
have been described, 2 lethal autosomal recessive
forms and a benign autosomal dominant type [2].
The autosomal dominant type can be subdivided
into type I and type II forms as described by
Bollerslev and Andersen [3] and Bollerslev and
Mosekilde [4]. In all 3 forms of osteopetrosis, there is
a lack of osteoclast function resulting in decreased
bone resorption with increased cortical bone and
calcified cartilage.
The type II form of osteopetrosis is the classic
Albers-Schonberg disease. This type has recently
From the Mayo Clinic, Rochester, Minnesota.
Submitted September 17, 2003; accepted November 28, 2004.
No benefits or funds were received in support of the study.
Reprint requests: Daniel J. Berry, MD, Mayo Clinic, 200 First St
SW, Rochester, MN 55905.
n 2005 Elsevier Inc. All rights reserved.
0883-5403/05/1906-0004$30.00/0
doi:10.1016/j.arth.2004.11.015
been mapped to chromosome 16p13.3 [5]. Patients
with Albers-Schonberg disease have a normal life-
span but have frequent orthopedic problems, which
include frequent fractures, coxa vara, long-bone
bowing, osteomyelitis, osteoarthritis, and fracture
nonunion [6-11].
Two of these problems, osteoarthritis and certain
periarticular nonunions, may be recalcitrant to
other treatment options and may be considered
for treatment with total joint arthroplasty. Howev-
er, if joint arthroplasty is considered, there is very
little information about the results, complications,
and technical difficulties associated with the pro-
cedure. It is recognized that the hard brittle bone,
often without a normal medullary canal, could
make arthroplasty implantation difficult, com-
promise the results of arthroplasty, and lead to
more frequent complications. To the authors’
knowledge, there are only 7 separate case reports
of arthroplasty for this diagnosis in the English
literature [7,12-15]. The present series of 5 cases
and literature review further provide information

815
816 The Journal of Arthroplasty Vol. 20 No. 6 September 2005
about results, technical challenges, and complica-
tions of lower extremity arthroplasty in patients
with osteopetrosis.
Case 1
A 45-year-old woman with osteopetrosis was
referred for treatment of nonunion of a left inter-
trochanteric femur fracture. The initial fracture had
occurred 2 years before her visit and had been
treated with open reduction and internal fixation
(ORIF). She next had been treated with a second
ORIF with autogenous grafting and demineralized
bone matrix. She had been placed in a hip spica cast
and remained in this for 7 months and received
electrical stimulation, but the fracture again failed
to heal.
The patient was nonambulatory secondary to
pain. She had pain at rest and had been unable to
lie flat for 2 years. Her preoperative Harris hip score
was 30 of 100. Radiographs showed evidence of
osteopetrosis, a coxa vara deformity on the right
with an unhealed iliac wing fracture. On the left,
she had a nonunion of an intertrochanteric hip
fracture nonunion and the lag screw had cut out of
the proximal fragment. The greater trochanter was
a separate nonunion fragment (Fig. 1A).
The patient was treated with left total hip
arthroplasty (THA) using an uncemented acetabu-
lar component and a cemented femoral component.
The retained internal fixation devices, including lag
screws and side plate, were removed with standard
instrumentation but with difficulty owing to screw
incarceration in the sclerotic bone. The acetabular
bone was very hard and after reaming had minimal
Fig. 1. A, Preoperative radiograph of the left hip of
the 45-year-old woman with osteopetrosis and recalci-
trant periarticular hip fracture nonunion. B, Radiograph
of same patient’s hip 3.5 years after THA. The implants
are stable.
punctate bleeding. An uncemented porous-coated
acetabular component (Harris-Galante-2, Zimmer,
Warsaw, Ind) was inserted and fixation was aug-
mented with screws. The femoral canal was absent.
A burr, drill, and reamer were used to create a canal
under fluoroscopic guidance. A medullary canal
large enough to accommodate a thin femoral
component (150 mm CDH prosthesis, Zimmer) long
enough to bypass the screw holes in the femur was
created with difficulty because of the extremely
hard bone. The femoral component was cemented
using a cement gun, retrograde filling of the canal,
and pressurization. A small strut allograft was used
to reinforce the ipsilateral intertrochanteric fracture
nonunion. The greater trochanter was reattached
with suture. Postoperative radiographs showed
excellent position of the prosthesis. Operative time
was 6 hours and 27 minutes. Estimated blood loss
was 3200 mL. There were no complications related
to the procedure.
At 3.5 years postoperatively, the patient had mild
pain and used a walker for support because of ab-
ductor weakness. Her Harris hip score was 60 of 100.
Radiographs showed a prosthesis with no evidence
of acetabular or femoral loosening (Fig. 1B). The
trochanteric nonunion remained unhealed.
Case 2
A 47-year-old man with osteopetrosis diagnosed
at age 10 years presented with progressively
worsening symptoms of osteoarthritis of the right
hip. His past orthopedic history included a fracture
of his proximal femur treated with ORIF and a
fracture of his humerus. Over the previous 5 years,
he had increasing right hip pain that has reduced
his daily functional activities. He could walk only
one block despite treatment with nonsteroidal anti-
inflammatory agents.
On physical examination he had a markedly
antalgic gait to the right. His preoperative Harris hip
score was 45 of 100. Radiographs of his hip
demonstrated osteopetrosis and advanced osteoar-
thritis of the right hip (Fig. 2A).
The patient was treated with an uncemented
porous-coated acetabular component (Trilogy, Zim-
mer) press fit into the acetabulum and fixed with
3 screws. The proximal femur had no medullary
canal. A cannulated reaming system was used to
create a medullary canal under fluoroscopic guid-
ance. Operative time was 4 hours and 54 minutes. A
femoral component (Osteonics Omnifit, Stryker,
Rutherford, NJ) was inserted with cement using a
cement gun, retrograde filling of the canal, and
 TJA in Patients with Osteopetrosis ! Strickland and Berry
Fig. 2. A, Preoperative radiograph of the right hip of the
47-year-old man with osteopetrosis and advanced hip
arthritis. B, Radiograph of same patient’s hip 4 years after
THA. The implants are stable.
pressurization. Estimated blood loss was 800 mL.
There were no complications related to the surgery.
Four years after operation, the patient was pain
free and walked without support or limp. Radio-
graphs demonstrated stable implants without evi-
dence of loosening (Fig. 2B). His Harris hip score
was 97 of 100.
Case 3
A 41-year-old woman with osteopetrosis pre-
sented with left hip pain. She was diagnosed with
osteopetrosis at age 7 years after sustaining a
fracture of her hip. She had had more than
40 fractures during her lifetime. Most recently she
had sustained a left femoral neck fracture that had
not united and had been treated subsequently with
valgus intertrochanteric femoral osteotomy. At
presentation, neither the osteotomy nor the fem-
oral neck fracture was healed. Pain in the left hip
area had progressively worsened and she was
confined to a wheelchair for the past year and a
half except for minimal household ambulation.
Physical examination demonstrated a very stiff
hip with no abduction, adduction, and external or
internal rotation and hip flexion from 458 to 908.
Her Harris hip score was 14 of 100. Radiographs
revealed osteopetrosis and a left disunited femo-
ral neck fracture and a united intertrochanteric
osteotomy line.
The patient was treated with THA. The screws
from retained hardware were removed without
difficulty. The acetabulum was reamed and multi-
ple 1/8-in drill holes were placed in the acetabu-
lum. The femoral canal was absent and burrs and
drills were used to create a femoral canal under
817
fluoroscopic guidance sufficient in size to receive a
small femoral stem (100-mm CDH stem, Zimmer).
The acetabulum was reconstructed with a 40-mm
all-polyethylene cemented acetabular component
(Protek, Austin, Tex). The femoral component was
cemented using a cement gun, retrograde filling of
the canal, and cement pressurization. Operative
time was 3 hours and 37 minutes. Estimated blood
loss was 1500 mL.
Postoperative complications included a partial
sciatic nerve palsy with foot drop of uncertain
etiology. The palsy was managed with observation
and was unchanged at 1 year postsurgery. The
patient had significantly less pain; however, she
continued to need 2 crutches for support. Her
Harris hip score at 1 year was 57 of 100. She was
subsequently lost to follow-up.
Case 4
A 68-year-old woman with osteopetrosis pre-
sented with 15 years of bilateral knee pain worse
on the left. The pain markedly limited her walking
capacity, gave her difficulty with stairs, and inter-
fered with her sleep.
On physical examination, the patient had a varus
deformity of 138. She had an antalgic gait. Knee
flexion was 08 to 1058. Radiographs revealed
osteopetrosis and osteoarthritis of the knee with
varus knee alignment.
A left cemented total knee arthroplasty (TKA)
was performed (Total Condylar, Howmedica, Ruth-
erford, NJ). The hard dense bone precluded use of
intramedullary alignment rods so extramedullary
alignment methods were used. Bone cuts were
difficult secondary to the patient’s very hard
sclerotic bone. Operative time was 2 hours and
25 minutes. The estimated blood loss was 600 mL.
Early postoperatively, the patient had range
of motion (ROM) from 108 to 808 and was treated
with knee manipulation. Knee ROM improved
to 1058. She walked without support and had
no knee pain. At 20 years postoperatively, her
left knee remained pain free with excellent motion.
Her overall function was limited because of left
hip pain.
Case 5
A 42-year-old woman presented with many
years of right knee pain and progressive valgus
deformity of the right knee. The pain interfered
with her sleep and limited her walking capacity.
She had difficulty with stairs.
818 The Journal of Arthroplasty Vol. 20 No. 6 September 2005
On physical examination, the patient had a
valgus deformity of approximately 208. She had
an antalgic gait. Knee ROM was 208 of extension
to 1208 of flexion. Radiographs revealed osteopet-
rosis and osteoarthritis of the knee with valgus
knee alignment (Fig. 3A). A left cemented poste-
rior-stabilized TKA was performed (Sigma, DePuy,
Warsaw, Ind). The hard dense bone precluded the
use of intramedullary alignment rods so extrame-
dullary alignment methods were used. Bone cuts
were difficult secondary to the patient’s very hard
sclerotic bone. A burr rather than a broach was
used to create a space for the keel of the tibial
component. The patella had normal cartilage and
was left unresurfaced. Operative time was 2 hours
and 30 minutes. Estimated intraoperative blood
loss was 100 mL. The patient had an uneventful
postoperative course. Two years after surgery, she
had no knee pain. The alignment was 58 of valgus,
and the knee was stable. She walked with a limp
related to a contralateral hip problem. Her knee
ROM was 08 to 1208. Knee radiographs showed no
evidence of implant loosening (Fig. 3B and C).
Discussion
Patients with osteopetrosis are at risk for osteo-
arthritis and periarticular nonunions recalcitrant to
treatment. In some cases, few potential treatment
options other than total joint arthroplasty are
available for these patients. However, to date, the
very limited number of reported arthroplasty cases
in patients with this disease provides sparse infor-
mation about the results, complications, and tech-
nical challenges of lower extremity arthroplasty.
The 5 cases reported here, in combination with
7 previously published cases of arthroplasty in
patients with osteopetrosis, demonstrate that adult
Fig. 3. A, Preoperative knee
radiograph of the 42-year-old
woman with osteopetrosis with
advanced arthritis of the knee
and valgus knee deformity. B,
Anteroposterior radiograph of
same patient’s knee after TKA.
C, Lateral radiograph of the
same patient’s knee after TKA.
patients with osteopetrosis and coexistent osteoar-
thritis of the hip or knee and/or recalcitrant
periarticular hip fracture nonunion can be treated
successfully with total joint arthroplasty (Table 1).
Stable implant fixation to the bone can be
achieved in patients with osteopetrosis, despite
the hard sclerotic bone, which might impede
cement interdigitation. No cemented implants have
loosened in the 5 cases in this report; notably, in
the previously published cases, there is mention of
only one case of possible femoral component
loosening. However, little follow-up radiographic
information is provided in many of the reports and
no results with more than 6 years of follow-up are
presented in the literature (Table 1). Uncemented
sockets were used at the discretion of the surgeon
in 2 of the 4 cases in this report. Although fracture
healing may be problematic in these patients and
thus the potential for bone ingrowth to unce-
mented components theoretically could be com-
promised, those 2 cases of uncemented socket
fixation have been successful at midterm follow-
up. Uncemented sockets were also used in the
3 cases published by Matsuno and Katayama [15]
and no problems with loosening were reported.
Brittle bone theoretically could put patients with
osteopetrosis at risk for postoperative periprosthetic
fractures around arthroplasty implants. None has
occurred in our patients, nor has any been
recognized in previous case reports [7].
Patients with osteopetrosis are thought to be at
increased risk for osteomyelitis secondary to de-
creased bone vascularity and impaired white cell
function [10,11]. However, no infections have
been reported in the 14 cases of total joint
arthroplasty now reported in the English literature.
These case reports and the others previously
published [7,12-15] demonstrate the technical
challenges of performing arthroplasties in patients
 TJA in Patients with Osteopetrosis ! Strickland and Berry 819

Table 1. Results of Osteopetrosis and Total Joint Arthroplasty

Gene Age Technical Radiographic

Authors diagnosis Procedure(s) (y) problems Complications Follow-up Outcome analysis

Matsuno and Autosomal Bilateral 16 (1) Difficulty making None 6 years Harris hip No mention
Katayama [15] dominant hybrid THA femoral neck cut; score = 84 of radiographic
(2) absence of postoperatively implant
femoral canal; stability
(3) high-speed burr
and fluoroscopy
needed to
form canal
Matsuno and Autosomal Left hybrid 50 (1) Difficulty None 1 year Harris Hip No mention
Katayama [15] dominant THA preparing Score = 84 of radiographic
acetabulum; postoperatively implant
(2) difficulty stability
preparing
femoral canal
Janecki and Autosomal Left 44 (1) Difficulty Minor 6 months bSatisfactoryQ No mention
Nelson [14] dominant cemented making femoral intraoperative of radiographic
THA neck cut; fracture implant
(2) narrow femoral of lesser stability
canal prepared trochanter
with power drill
Cameron and Autosomal Bilateral 41/42 (1) Difficulty with None 4 years bFunctioning No mention
Dewar [12] dominant cemented THA reaming of canal; wellQ of radiographic
(2) prosthesis implant
was shortened stability
at both
procedures
Ashby [7] Autosomal Bilateral 52 No mention Intraoperative 5 years No pain, Possible femoral
dominant cemented THA of technical femoral canal no use of loosening
difficulties preparation ambulatory of one
with cement aids hip at
extravasation; 3 years
dislocation of
one hip
Ashby [7] Autosomal Right 70 No mention None Lost to Unknown Lost to
dominant cemented of technical follow-up follow-up
THA difficulties
Casden et al [13] Autosomal Left 50 (1) Difficulty None 2 years Painless Stable implants
dominant cemented making ROM 08-808 at 2 years
TKA osteotomies; postoperatively
(2) difficulty
placing
cutting jigs;
(3) difficulty
preparing tibia

with osteopetrosis. The most important includes
the frequent need to create a medullary canal and
the difficulties of working with very hard, brittle,
sclerotic bones. To address these problems, our
experience suggests that the following measures
can be helpful in THA: (1) power drills and/or high-
speed burrs can be used to recreate a medullary
canal. Fluoroscopic guidance can help prevent
perforation of the femur during this process.
During THA, femoral preparation with a broach is
usually precluded by the hard sclerotic bone. For
this reason, the authors believe uncemented fem-
oral implants would be difficult to use in this
condition unless a system that allows bone prepa-
ration without broaches is used. The authors do not
have any information about how uncemented THA
femoral components would perform for this diag-
nosis. (2) Small femoral components that reduce
the diameter and length of the medullary canal that
must be created can be used for THA. For TKA, the
need for extramedullary alignment methods may
be anticipated. For either hip or knee arthroplasty,
macrotexturing of the bone with a burr may
improve cement-bone interface strength. In some
circumstances in which cement interdigitation with
bones is difficult, some surgeons use uncemented
arthroplasty components but the authors have no
information about how uncemented knee arthro-
820 The Journal of Arthroplasty Vol. 20 No. 6 September 2005
plasty components would perform in this diagnosis.
Finally, longer operative times can be anticipated
for these challenging problems: the average oper-
ative time in the 3 total hip arthroplasties reported
here was almost 5 hours.
Summary
These case reports and the few previously pub-
lished cases demonstrate that total joint arthroplasty
can be used successfully to treat hip and knee
arthritis and periarticular hip nonunion in patients
with osteopetrosis. These cases also highlight the
technical difficulties associated with total joint ar-
throplasty in patients with osteopetrosis. Operative
time is increased secondary to hard sclerotic bone
and the frequent lack of a normal medullary canal.
References
1. Albers-Schonberg H. Rottgenbilder einer seltenen
Knochenerkrankung. MMW Mqnch Med Wo-
chenschr 1904;51:365.
2. Carolino J, Perez JA, Popa A. Osteopetrosis. Am Fam
Physician 1998;57:1293.
3. Bollerslev J, Andersen Jr PE. Fracture patterns in two
types of autosomal dominant osteopetrosis. Acta
Orthop Scand 1989;60:110.
4. Bollerslev J, Mosekilde L. Autosomal dominant
osteopetrosis. Clin Orthop 1993;294:45.
5. Benichou O, Cleiren E, Gram J, et al. Mapping of
autosomal dominant osteopetrosis type II (Albers-
Schonberg disease) to chromosome 16p13.3. Am J
Hum Genet 2001;69:647.
6. Armstrong DG, Newfield JT, Gillespie RMB. Ortho-
pedic management of osteopetrosis: results of a
survey and review of the literature. J Pediatr Orthop
1999;19:122.
7. Ashby ME. Total hip arthroplasty in osteopetrosis: a
report of two cases. Clin Orthop 1992;276:214.
8. Beighton P, Horan F, Hamersma H. A review of the
osteopetroses. Postgrad Med J 1977;53:507.
9. Gupta R, Gupta N. Femoral fractures in osteopetrosis:
case reports. J Trauma 2001;51:997.
10. Milgram JW, Jasty M. Osteopetrosis: a morphologic
study of twenty-one cases. J Bone Joint Surg
1982;64A:912.
11. Shapiro F. Osteopetrosis: current clinical consider-
ations. Clin Orthop 1993;294:34.
12. Cameron HU, Dewar FP. Degenerative osteoarthri-
tis associated with osteopetrosis. Clin Orthop 1977;
127:148.
13. Casden AM, Jaffe FF, Kastenbaum DM, et al. Osteo-
arthritis associated with osteopetrosis treated by
total knee arthroplasty: report of a case. Clin Orthop
1989;247:202.
14. Janecki CJ, Nelson CL. Osteoarthritis associated
with osteopetrosis treated by total hip replacement
arthroplasty: report of a case. Clevel Clin Q 1971;
38:169.
15. Matsuno T, Katayama N. Osteopetrosis and total
hip arthroplasty: report of two cases. Int Orthop 1997;
21:409.