Handbook of Genetic Counseling/Gaucher Disease-3

Gaucher Disease

Items listed as concerns

(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

Notes

The information in this outline was last updated in 2001.