Treatment of Homozygous Familial Hypercholesterolaemia (FOI)

Request

I am writing to you today to formally request information relating to the diagnosis and treatment of Homozygous Familial Hypercholesterolaemia (HoFH) at States of Jersey Health and Social Services.

Specifically, I am after the following information:

A

Does States of Jersey Health and Social Services diagnose patients with Homozygous Familial Hypercholesterolaemia (HoFH)? Y / N

1. If yes, does your trust diagnose adult patients, paediatric patients or both?

2. 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.

3. Which of the following tests / diagnostic procedures do you use at States of Jersey Health and Social Services 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 response)

B

Does States of Jersey Health and Social Services treat patients with Homozygous Familial Hypercholesterolaemia (HoFH)? Y / N

1. If no, please specify where patients diagnosed with HoFH are referred to for treatment. Please specify Trust / Organisation Name and Hospital Name where possible.

2. If yes, does your trust treat adult patients, paediatric patients or both?

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.

3. How many patients in the last calendar year have received treatment for HoFH at States of Jersey Health and Social Services? Please provide where available (and applicable) a breakdown by Adult and / or Paediatric Patients.

4. For HoFH patients requiring Apheresis, are you able to carry out this procedure at States of Jersey Health and Social Services? Y / N

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.

ii) If yes, how many HoFH patients in the past calendar year have been treated by Apheresis by States of Jersey Health and Social Services? Please where possible (and applicable) provide with break down by Adult and Paediatric Patients.

Response

A

Yes.

1. Both.

2. Adults – No database is maintained and it is therefore not possible to provide the information requested as genetic testing has not been routinely commissioned to distinguish Homozygous from Heterozygous defects.

Paediatrics – Less than five (<5) diagnoses every few years.

3.

i. Cascade Genetic / DNA Tests

This test is occasionally undertaken as a `Consultant only’ request as long as the request meets diagnostic guidelines and funding is available at the time of the request.

ii. Dutch Lipid Clinic Network (DLCN) criteria

No.

iii. Simon Broome diagnostic criteria

Yes, in house.

iv. Family History

Yes, in house.

v. Cholesterol / LDL Blood Testing

Yes, in house.

vi. Other (please specify details of name of test in the FOI return)

None.

B

Yes

1. Not applicable

2. Both.

Paediatrics jointly manage with paediatric endocrinology – shared care with Southampton team.

i) Not applicable. Please see above.

3. Adults - No database is maintained. Staff have estimated approximately five amongst patients from the Endocrinology department.

Paediatrics – Less than five (<5). Disclosure control has been applied to protect the identity of individuals and Article 25 of the Freedom of Information (Jersey) Law 2011 has been applied.

4. To-date, this treatment has not had to be initiated. It may be possible through the Renal Service in select situations.

i) No record is held of any referrals being made.

ii) Not applicable. Please see above.

Exemption applied

25 Personal information

(1) Information is absolutely exempt information if it constitutes personal data of which the applicant is the data subject as defined in the Data Protection (Jersey) Law 2005.

(2) Information is absolutely exempt information if –

(a) it constitutes personal data of which the applicant is not the data subject as defined in the Data Protection (Jersey) Law 2005; and

(b) its supply to a member of the public would contravene any of the data protection principles, as defined in that Law.