Freedom of Information Request: 0237 2019/20
Specifically, I am after the following information:
- Does University Hosp Birmingham NHS Foundation Trust diagnose patients with Homozygous Familial Hypercholesterolaemia (HoFH)? Yes
- If yes, does your trust diagnose adult patients, paediatric patients or both? Adult patients only
- How many patients in the last calendar year have you diagnosed with this condition? Please provide where available (and applicable) a breakdown by Adult and/or Paediatric Patients. Two
Which of the following tests/diagnostic procedures do you use at University Hosp Birmingham NHS Foundation Trust in relation to the diagnostics of HoFH? For these tests, which ones are you able to carry out “in house”? Of those carried out elsewhere, where are patients referred to have the testing carried out? For answers please use table below.
I. Cascade Genetic/DNA Tests
ii. Dutch Lipid Clinic Network (DLCN) criteria
iii. Simon Broome diagnostic criteria
iv. Family History
v. Cholesterol/LDL Blood Testing
vi. Other (please specify details of name of test in the FOI return)
| Test Name | Test used for HoFH diagnosis at this trust Y/N | Test carried out by trust In-house for diagnosis of HoFH Y/N | Details of referral organisation/location for those tests that cannot be carried out by the trust. |
| Cascade Genetic/DNA Tests | Yes | Blood test taken ‘in house’ and sent to Southmead Hospital, Bristol for genetic analysis | Regional genetics laboratory, Southmead Hospital, Bristol |
| Dutch Lipid Clinic Network (DLCN) criteria | No | This is only used to determine whether patient is eligible for genetic testing, not for diagnosis | |
| Simon Broome Diagnostic Criteria | No | ||
| Family History | Yes | This is not a ‘diagnostic’ test, it is used to help determine whether further investigations are warranted | |
| Cholesterol/LDL Blood Testing | Yes | In-house | |
| Other (please specify) |
- Does University Hosp Birmingham NHS Foundation Trust treat patients with Homozygous Familial Hypercholesterolaemia (HoFH)? Yes
a) If no, please specify where patients diagnosed with HoFH are referred to for treatment. Please specify Trust/Organisation Name and Hospital Name where possible. Not Applicable
b) If yes, does your trust treat adult patients, paediatric patients or both? Adult only b) If your trust doesn’t treat a subgroup (Adult or Paediatric), to which organisation are this sub group referred to for treatment? Please specify Trust/Organisation Name and Hospital Name where possible. Not Applicable
c) How many patients in the last calendar year have received treatment for HoFH at University Hosp Birmingham NHS Foundation Trust? Please provide where available (and applicable) a breakdown by Adult and/or Paediatric Patients. 9 adult patients
d) For HoFH patients requiring Apheresis, are you able to carry out this procedure at University Hosp Birmingham NHS Foundation Trust? Y/N Yes
I. If no, to which organisation(s) do you refer patients to for Apheresis treatment and how many patients are referred to these sites? Please list by trust name and hospital site where available, and where possible/applicable please breakdown patient referrals by Adult and Paediatric Not Applicable
ii. If yes, how many HoFH patients in the past calendar year have been treated by Apheresis by University Hosp Birmingham NHS Foundation Trust? Please where possible (and applicable) provide with break down by Adult and Paediatric Patients. 4 adult patients receive apheresis at UHB, the others are managed with medication only
