14 / 46
Pain Management 2019 & Internal Medicine 2019
International Journal of Anesthesiology & Pain Medicine
ISSN: 2471-982X
Page 52
JOINT EVENT
7
th
Edition of International Conference on
Pain Management
8
th
Edition of International Conference on
Internal Medicine &
Patient Care
&
March 25-26, 2019
Rome, Italy
Efstathios Konstantinou Koutsostathis, Int J Anesth Pain Med 2019, Volume 5
DOI: 10.21767/2471-982X-C1-006
Gaucher disease: An orphan disease with significant
osseous manifestations
Efstathios Konstantinou Koutsostathis
Kerameikos Health Center, Greece
G
aucher disease the most common of the lysosomal
storage diseases and is classified in orphan
diseases, that comprise rare disorders with prevalence
of 1:50000 or lower in the general population. Gaucher
disease results from mutations leading to impaired
enzymatic activity of a lysosomal hydrolase called
β-glucocerebrosidase and thus to the accumulation of
glucocerebrosides in the lysosomes of themacrophages.
This has as a result cytopenias due to hypersplenism and
infiltration of bone marrow by Gaucher cells. Disease
severity varies greatly from the invariably mortal infantile
type 2 and the completely asymptomatic type 1. Clinical
manifestations include splenomegaly, hepatomegaly
and growth retardation. There are three types of Gaucher
disease, type 1, 2 and 3. Type 1 accounts for the 95% of
cases in patients of Caucasian origin. Also, the activated
macrophages excrete cytokines that affect the bones.
Osteopenia, osteoporosis, painful bone crises, pathologic
fractures, osteonecrosis may occur. In general, skeletal
involvement is considered a sign of grave prognosis
since it can lead to serious complications with elevated
morbidity andmortality. There is significant consideration
that disease clinical phenotype should be considered as
a continuum and not as discrete clinical subtypes. Early
diagnosis of the disease is crucial since most patients
have significant splanchnic involvement at the time of
diagnosis in types 1 and 3. The major diagnostic criterion
is reduced enzymatic activity of β-glucocerebrosidase.
Chitotriosidase levels and Chemokine CC (CCL18/
PARC) are also measured. Therapy consists of
β-glucocerebrosidase substitution and substrate
reduction therapy.
Biography
Efstathios Konstantinou Koutsostathis has completed his PhD
in Medicine from the National and Kapodostrian University of
Athens. He has completed his education in Internal Medicine
at Attikon University Hospital. He is an internist, consultant at
Kerameikos Health Center. He is also a Post Graduate Student
at the Medical School of Athens in the field of Metabolic Bone
diseases and in Public Health at the Natonal School of Public
Health. He has published papers in medical journals.
e.koytsostathis@gmail.com