Handbook of Genetic Counseling/Gaucher Disease-3
Appearance
Gaucher Disease
Items listed as concerns
[edit | edit source](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
[edit | edit source]The information in this outline was last updated in 2001.