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Flashcards in Gaucher's disease Deck (11):
1

What is Gaucher's disease?

  • An autsomal recessive deficiency of acid Beta glucocerebrosidase
  • most common glycogen storage disease
  • 1 in 40,000 incidence
  • most common in Ashkenazi Jewish origin 

2

what is the pathophysiology of Gaucher's disease?

  • enzyme deficiency leads to disturbances in cell metabolism with accumulations of Sphingolipids in the 
    • liver
    • spleen
    • Bone marrow

3

What is the classification of Gaucher's disease?

  • Type 1 - Beta glucocerebrosidase deficency- most common
    • adult type
    • easy bruising
    • Anaemia , Fx
    • treatable w enzyme replacement therapy ( fatal if enzyme subsitute is not given)
  • Type 2 ( infantile)
    • Lethal by age 3
    • brain and organ involvement
    • untreated
  • Type 3
    • ​onset in teens
    • thrombocytopenia, anaemia, enlarged liver
    • fx
    • gradual brain involvement
    • type 3 clinical diverse
    • non CNS respond well to enzymes

4

What are the manifestations of Gaucher's disease?

  • Fatigue
  • prolonged bleeding
  • fever, chills, sweating
  • seizure
  • developmental delay

Orthopaedics

  • Bone fractures/osteomyelitis
  • joint pain/contractures
  • bone necrosis/osteonecrosis

5

What are the signs of gaucher's disease?

  • Abnormal skin bruising
  • Hepatosplenomegaly
  • Cardiac murmur
  • bone deformities
    • 80% distal femur/ proximal tibia
    • joint contractures
    • pathological fx

6

Symtpoms of Gaucher's disease?

Systemic

  • Fatigue ( anaemia)
  • Prolonged bleeding ( thrombocytopenia)
  • Fever, chills, sweats ( infection)
  • Seizures, developmental delay ( CNS involvment)

Ortho

  • Bone pain ( fractures, osteomyelitis)
  • joint pain or contractures
  • bone crisis ( osteonecrosis)

7

What is seen in the labs with a pt with Gaucher's disease?

  • Anaemia
  • Thrombocytopenia
  • Dx confirmed with elevated plasma levels of Glucocerebrosides

8

What does histology show on gaucher's disease?

  • bone marrow aspirate shows a giant binucleate storage cell filled with glucocerebrosides
  • which accumulate due to deficiency of Beta- glucocerebrosides

9

What is seen on imaging of Gaucher's disease?

Xrays

  • Cardiac enlargement
  • pathological fx
  • osteonecrosis
  • abnormal bone remodelling
  • Osteopenia
  • 'Erlenmeyer flask' deformity of the distal femur- see pic

​MRI/CT

  • chronic vasucular insult in osteonecrosis in prox/distal femur/proximal tibia  

10

What is the tx of Gaucher's disease?

Non operative

  • observation and support therapy
    • for non affected pts ( normal bloods/xrays)
  • enzyme replacement therapy
    • ​all children and asymptomatic pts
    • not affective in type 2 gaucher's disease
    • imiglucerase
    • veraglucerase alfa
  • ​Substrate reduction therapy
    • ​less severely affected pts that can't tolerate enzyme replacment therapy
    • miglustat

Surgery

  • Bone marrow transplant
    • ​if reformed early maybe curative

11

What is the tx of fx mx in a pt with Gaucher's disease?

  • preop optimisation with enzyme therapy is critical
  • availiability of additional blood, clotting products, and plaletes due to increased bleeding risk
  • anaeasthetic to maintain oxygenation to prevent bone crisis
  • increased risk of infection