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.