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G
aucher
’
s
disease
in
a
patient
presenting
with
hip
and
abdominal
pain
R
ev
A
ssoc
M
ed
B
ras
2017; 63(12):1025-1027
1027
gene encoding the enzyme beta-glucocerebrosidase. It has
been reported to be more common among Ashkenazi
Jews.
2,4
Additionally, multiple myeloma, lymphoma,
hepatocellular carcinoma and Parkinson disease are
more common in Gaucher patients than in the normal
population.
3
Beta-glucocerebrosidase enzyme activity is
impaired as a result of mutations, and glucocerebroside
accumulation occurs in the reticuloendothelial system.
1,3
The most commonly seen subtype is type 1, characterized
by hepatosplenomegaly, hematological findings and bone
diseases.
2
Symptoms commonly occur in the 3
rd
decade
of life in this chronic type. Prognosis is poorer in symp-
tomatic patients in the pediatric age group.
2
Abdominal pain associated with hepatosplenomegaly
is frequently seen among the clinical findings. Infarctions,
nodules, portal hypertension and cirrhosis may occur in
the liver. Hepatocyte damage, fibrosis around Gaucher cells
and collagen bands appear in the liver. Hepatomegaly is
present in almost all patients, but impairment of liver func-
tions is rare.
4,5
In our case, alkaline phosphatase, aspartate
aminotransferase and gamma glutamyl transferase enzymes
were slightly elevated (110 U/L, 37.4 U/L and 51 U/L, re-
spectively). Increased biliary excretion of glucosylceramide,
hepatic injury and gallstone formation also occur in these
patients.
1
Increasing hemolysis is implicated in the forma-
tion of gallstones. However, no gallstone or biliary duct
pathology were present in our case.
Splenomegaly is frequently the earliest finding de-
termined. Care must be taken in terms of complications
such as bleeding resulting from splenic involvement,
increased frequency of infection, hypersplenism, splen-
ic infarct and fibrosis. Rapid growth in the spleen occurs
mostly in childhood. If rapid splenic growth occurs in
adulthood, hematological malignancy and autoimmune
hemolytic anemia must be investigated.
6
Splenectomy is currently used in the treatment of
a limited number of patients. This is due to the possibil-
ity of post-splenectomy complications and cell infiltration
in bone marrow.
7
Hypersplenism and bone marrow infiltra-
tion play a role in the development of pancytopenia in type
1 Gaucher’s disease patients. In our case, the long axis of
the spleen was 260 mm, and splenic infarct and intrapa-
renchymal nodular involvement were present. Other he-
matological findings were anemia persisting for many years,
a history of bleeding with minor traumas and hematuria.
The pathophysiology of bone involvement is not ful-
ly known, although bone and bone marrow infiltration
of Gaucher cells is implicated. The most commonly af-
fected bone is the femur, and the most common lesions
are osteopenia, osteonecrosis, osteosclerosis and bone
infarcts.
6
Chronic mild joint pain or severe pain mimicking
sickle cell anemia may occur. Infarcts cause an acutely
painful condition known as bone crisis by increasing in-
traosseous pressure. Functional imbalances of osteoblasts
and osteoclasts impair balance between bone formation and
destruction.
8
The most common radiological findings in
bone involvement are Erlenmeyer flask deformity, osteo-
penia, avascular necrosis and infarction. The radiological
appearance of fibrous proliferation and trabecular resorp-
tion secondary to infiltration takes the form of cortical
thinning, scalloping and radiolucency. Other skeletal
findings are compression fracture in the vertebral body,
secondary osteoarthritis and pathological fracture.
8,9
Use of enzyme replacement therapy and support
therapy apply in Gaucher’s disease. Improvement has
been reported in extraskeletal findings and hematological
parameters with enzyme replacement therapy.
7
Support
therapy may include antibiotherapy for infections, iron
formulations for anemia, analgesic for bone pathologies
and surgical procedures. Use of splenectomy is limited and
it is generally employed in cases of massive infarct or
severe pancytopenia.
10
C
onflict
of
interest
The authors declare no conflict of interest.
R
eferences
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