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