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Erdheim-Chester disease associated with hydrocaiycosis and arthropathy.

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LETTERS
1215
Erdheim-Chester disease associated with
hydrocaiycosis and arthropathy
To the Editor:
In 1972, Jaffe (1) reviewed 2 patients previously
described by Chester (2) and described an additional patient
who had an unusual form of lipoidosis and pathologic
skeletal changes, which he named Erdheim-Chester disease
(2). Granulomatous changes associated with cholesterolladen foam cells that predominantly affect bone, but sometimes affect other tissues, are a characteristic histologic
finding. To date, only 23 cases of Erdheim-Chester disease
have been reported in the English-language literature. We
report another case, which was associated with hydrocalycosis and arthropathy.
The patient, a 55-year-old white man, experienced 2
episodes of acute pain and swelling affecting both knees.
This was followed by pain and restriction of motion in both
shoulders. He was treated with colchicine (500 pg, twice a
day), which provided moderate relief. Four months later, he
was referred to our clinic. He had a history of episodic
oliguria and bilateral loin pain, which had been diagnosed as
bilateral “congenital” hydrocalycosis, and a history of adverse skin reactions to many nonsteroidal antiinflammatory
drugs. On examination, there was synovial thickening with
small effusions in both knees, painful arc syndrome in both
shoulders, and widespread tenderness of the long bones,
carpi, and phalanges, as well as in proximal and distal
muscles. Results of routine laboratory investigations, including renal function, fasting serum lipids, and rheumatoid
factor, were normal except for a mild elevation in alkaline
phosphatase (154 IU, normal range 35-115) and a modest
increase in urinary hydroxyproline excretion.
Synovial fluid samples taken from the knees contained no crystals or cells, and were of normal viscosity.
Radiographs revealed extensive diaphyseal and metaphyseal
osteosclerosis, particularly affecting the tibiae, fibulae, and
femora (Figure l), as well as cortical thickening, and periosteal reaction. There was no evidence of destructive
arthritis. A technetium radionuclide bone scan showed intense symmetric uptake in the diaphyses and metaphyses of
the legs and, to a lesser degree, in the arms. The initial
diagnosis was mild adult progressive diaphyseal dysplasia
(Englemann’s disease). To further clarify the diagnosis,
biopsy specimens of bone, muscle, and synovium were
obtained from the left knee. The appearance of the bone
specimen was similar to those described by Jaffe ( I ) , demonstrating osteosclerosis, marrow replacement by foamy
histiocytes, and scattered fibroblasts. The muscle biopsy
showed nonspecific type I1 fiber atrophy, and the synovium
sample showed mild villous proliferation of the synovial
lining cells, dilatation of some subsynovial vessels, but no
inflammatory cells or foamy histiocytes.
A diagnosis of Erdheim-Chester disease was made
on the basis of the histologic appearance of the bone,
coupled with the radiologic and clinical findings. The result
of an abdominal computed tomography (CT) scan confirmed
bilateral renal enlargement, dilatation of minor calyces, and
renal capsular thickening, but normal perinephric fat. Results of a CT scan of the skull and bone marrow aspiration
Figure 1. Radiograph of the patient’s knees, showing extensive osteosclerosis and periosteal new
bone formation, with sparing of the epiphyses.
1216
were normal. Subacromial steroid injection ameliorated the
painful arc syndrome and the colchicine was continued,
since this was providing symptomatic relief. Steroid therapy
has been suggested as the treatment of choice, although
vinblastine chemotherapy has been tried in 2 cases (3,4) and
radiotherapy has been tried in 1 (3). Prednisolone, 40 mg
daily for 2 weeks, subsequently tapered and withdrawn over
an additional 4 weeks, did not ameliorate our patient’s
skeletal or muscle pain.
It is not known if Erdheim-Chester disease is part of
the spectrum of the paraneoplastic histiocytoses (3).
Whether lipid accumulation within macrophages is an important primary abnormality or is merely an epiphenomenon is
not clear, but some of the other histologic features suggest
that cytokines derived from macrophages may be involved.
For example, the stimulation of fibroblastic activity and
adjacent synovial reaction might be due to interleukin-1
(IL- I) release. On the other hand, the excessive osteoblastic
activity is evidence against an IL-1 effect, and suggests that
a mediator akin to a tumor-derived osteoblast stimulating
activity may be involved.
The most common radiologic finding is symmetric
sclerosis of long bones (1,3-13), with predominant involvement of the metaphysis and diaphysis, and a clear line of
demarcation between the metaphysis and epiphysis. Focal
sclerotic and lytic lesions also may occur in flat, membranous bones (3,14). Generally, there is thickening and irregularity of trabeculae, blurring of the corticomedullary junction, cortical thickening, and periosteal new bone formation.
Englemann’s disease may have similar features, and a biopsy of the bone may be needed.
Some patients without skeletal symptoms have been
described (1,2,4,7-9,11,14), but 5 have had symptomatic
skeletal lesions. One had a chronic sinus discharging cholesterol (12), and 4 had chronic pain and swelling of the large
joints (3-5,13). Three, including our patient, had knee joint
symptoms. Our patient also had more generalized bone and
joint pain. Other features that have been reported include
exophthalmus (8,l I), diabetes insipidus (3), and liver cell
adenoma ( 1 1).
Hydrocalycosis is an important association of Erdheim-Chester disease. Of the 23 previously reported cases, 6
had renal abnormalities, including “congenital” megacalyces (11,13), pelviureteric obstruction (6), and bilateral
renal enlargement (3). Another patient underwent nephrectomy, and histologic examination of the kidney revealed
hystiocytic foam cell accumulation, particularly in the subepithelial connective tissue of the collecting system and
perinephric fat (4). In another case, calyceal dilatation was
presumed to be caused by renal and perirenal infiltration
with histiocytes (8). An intravenous pyleogram detected
hydrocalycosis in our patient, and a subsequent CT scan
confirmed prominent thickening of the capsule and dilated
LETTERS
minor calyces. Taken together, these findings suggest that
the renal abnormalities are not congenital, but are probably
due to histiocytic foam cell accumulation in the subepithelial
connective tissue of the collecting system. A renal biopsy
was not done in our patient, however, and this remains
unproven.
In conclusion, this case has the characteristic radiographic and histologic features of Erdheim-Chester disease
and provides further evidence of an association with large
joint arthropathy and hydrocalycosis.
R. Brown, MBBS
R. van den Berg, BMBS
N. P. Hurst, MRCP, PhD
P. W. Allen, FRCPA
The Queen Elizabeth Hospital
Woodville, South Australia
1. Jaffe HL: Metabolic, Degenerative, and Inflammatory Diseases
of Bones and Joints. Philadelphia, Lea & Febiger, 1972
2. Chester W: Uber lipoidgranulomatose. Virchows Arch [A] 279:
561-602, 1930
3 . Miller RL, Sheeler LR, Bauer TW, Bukowski RM: ErdheimChester disease: case report and review of the literature. Am J
Med 80: 1230-1236, 1986
4. Resnick D, Greenway G , Genant H, Brower A, Haghighi P,
Emmett M: Erdheim-Chester disease. Radiology 142:289-295,
1982
5 . Evans S , Williams F: Erdheim-Chester disease: polyostotic
sclerosing histiocytosis. Clin Radiol 37:93-96, 1986
6. Poehling GG, Adair DM, Haupt HA: Erdheim-Chester disease:
a case report. Clin Orthop 185:241-244, 1984
7. Simpson FG, Robinson PJ, Hardy GJ, Losowsky MS: ErdheimChester disease associated with retroperitoneal xanthogranuloma. Br J Radiol 52:232-235, 1979
8. Rozenberg I, Wechsler J, Koenis F, Brun B, Larde D, Raulo Y,
Hazard J , F‘inaudeau Y, Coscas G: Erdheim-Chester disease
presenting as malignant exophthalmos. Br J Radiol 59:173-177,
1986
9. Sorensen EW: Hyperlipemia: a report of an unusual case
complicated by bone lesions, macrocytic anaemia and leukemoid bone marrow. Acta Med Scand 175:207-214, 1964
10. Bohne WHO, Goldman AB, Bullough P: Case report 96. Skeletal Radiol 4:164-167, 1979
1 1 . Palmer FJ, Talley NJ: Erdheim-Chester disease with bilateral
exophthalmus and liver cell adenoma. Australas Radiol 28:305310, 1984
12. Dee P, Westgaard T, Langholm R: Erdheim-Chester disease:
case with chronic discharging sinus from bone. AJR 134:837839, 1980
13. Atkins HL, Klopper JF, Ansari AN, Iwai J: Lipid (cholesterol)
granulomatosis (Chester-Erdheim disease) and congenital megacalyces. Clin Nucl Med 3:324-327, 1978
14. Dalinka MK, Turner ML, Thompson JJ, Lee RE: Lipid granulomatosis of the ribs: focal Erdheirn-Chester disease. Radiology
142~297-299,1982
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associates, arthropathy, erdheim, disease, hydrocaiycosis, chester
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