Handbook of Genetic Counseling/Gaucher Disease-3

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Gaucher Disease

Items listed as concerns[edit]

(wants to know if they are related to Gaucher disease)

  • blood pressure risen --
    • When did you first notice this (before or after ERT)?
    • Presently, what is your average blood pressure?
    • What was it before?
  • cholesterol increase--
    • When did the increase in cholesterol occur?
    • Most recently it was about _____?
    • What was your cholesterol before?
    • Have you made any dietary modifications?
    • What types of foods do you eat and has that changed?
  • weight gain-
    • When was weight gain noticed? (since going on ERT?)
    • How long after going on ERT was it before you noticed?
    • How much weight have you gained?
  • hair thinning --
    • when did it begin?
    • anything seem to precipitate it?
    • how much has it thinned?
  • dry eyes and mouth -
    • when did this become noticeable?
    • how frequent?
  • arthritis -
    • hip, knees, back, shoulders
    • describe pain
    • how severe
    • is it constant or does it flare up at certain times
    • taking medication for it?
    • does it keep you from being active?
  • arm numbness -
    • When did you first notice this?
    • Describe it
    • Is it always numb?
  • neck rash -
    • when did the rash begin
    • describe how it looks and feels
    • how often is it present
    • does anything seem to bring it on or make it worse
  • frequent headaches -
    • When do they usually occur (pattern)?
    • How frequent are they?
    • Does anything seem to precede the onset?
    • Are they associated with the ERT?
  • Other pertinent medical history
    • Diagnosis of Gaucher disease made in 1776 at age 58?
    • Dx. after bone biopsy due to low platelets and red blood cells?
    • Diagnosed by enzyme levels?
    • Were there other symptoms at this time that prompted the bone biopsy?
    • weight loss?
    • increased fatique?
    • depression?
    • decrease in social or work activities?
    • more frequent or severe bleeding? (nose, gums)
    • abdominal pain?
    • abdominal pressure?
    • feeling of fullness even after eating only small amount?
    • joint aches
    • bone pain or fractures
    • Did you have genetic tests performed to determine your genotype?
    • When was that testing performed and were the mutations identified?
    • When did you begin ERT?
    • Why did the Dr's decide to treat with ERT?
    • Do you have pain that does not seem to be related to the arthritis?
    • Ever experience "bone crisis" where area is red, inflamed, painful, often accompanied with fever?
  • Family History
    • started a pedigree from information you gave
    • confirm information
    • find out more about the history of colon ca (age dx. & cause of death)
    • any other aunts or uncles on mom's side?
    • cause of mother's death
    • sister have children?
    • anyone else in family been diagnosed with Gaucher or have symptoms?
    • any one else in the family been tested for Gaucher carrier status?
    • ethnicity
    • consanguinity of her parents?
  • current medication
  • medical hx already reported by patient


The information in this outline was last updated in 2001.