Following is a question by the Hon Chan Hoi-yan and a reply by the Secretary for Health, Professor Lo Chung-mau, in the Legislative Council today (September 10):

Question:

     It is learnt that the Hospital Authority (HA) is developing the Rare Diseases Database by referencing the Mainland's National Lists of Rare Diseases which contains 207 rare disease entries, with a view to facilitating the identification of the relevant patients and retrieval of their clinical records. In this connection, will the Government inform this Council:

(1) whether it knows, according to the definitions under HA's Rare Diseases Database, the number of cases in which rare disease patients attend the accident and emergency (A&E) departments of public hospitals for treatment in each of the past five years, and among those cases, the number involving relapses or deterioration of the diseases and the number of patients concerned, as well as the top five rare diseases with the highest number of attendances; whether it has compiled statistics on the longest and median time taken from patients arriving at the A&E departments to receiving treatment;

(2) whether it knows how HA's healthcare staff make use of the Rare Diseases Database to assist in the diagnosis and treatment of rare disease patients in terms of clinical applications, in particular those patients seeking treatment without scheduled appointments due to relapses or deterioration of the diseases; and

(3) given that irreversible damage could be caused to patients suffering from certain rare diseases with high relapse rates (such as neuromyelitis optica) if timely medical treatment is not administered, whether the Government knows if HA will set up a multi-specialty expert panel in respect of such rare diseases to regularly review treatment protocols and the procedures for handling the patients concerned by the A&E departments, as well as to formulate the relevant clinical guidelines and define the golden hours for treatment so as to expedite diagnosis and treatment for such patients?

Reply:

President,

     In consultation with the Hospital Authority (HA), the consolidated reply to the question raised by the Hon Chan Hoi-yan is as follows:

     The HA attaches high importance to providing optimal care for all patients, including those with rare diseases.

     There is no common definition of rare diseases worldwide. To enhance clinical support for patients with rare diseases and improve diagnostic and treatment capabilities, the HA has developed the Rare Diseases Database by referencing the National Lists of Rare Diseases which contains 207 rare disease entities. The HA's Clinical Management System (CMS) maintains clinical data for all patients, including those with rare diseases, alongside information on various disease categories. When providing treatment for patients with rare diseases covered under the lists, doctors will input the relevant diagnosis codes in the consultation records in the HA's CMS to identify patients with rare diseases and provide appropriate care accordingly. As the HA accumulates more local experience in treating rare diseases and clinical data, the database of rare disease patients in the CMS will become more extensive, providing important reference for healthcare service planning as well as clinical diagnosis and treatment. As at June 30 this year, the HA's CMS has recorded all 207 diseases listed in the National Lists of Rare Diseases, with a total of about 63 600 cases.

     According to statistics from the HA, the five types of rare diseases that are relatively less uncommon in Hong Kong are, in order of prevalence: gastrointestinal stromal tumor, generalised myasthenia gravis, retinopathy of prematurity, hereditary hypomagnesemia, and polycythemia vera. After diagnosis, most of these rare disease patients can be managed through out-patient follow-ups, with only a small number requiring hospitalisation for treatment. Where patients are required to attend the accident and emergency (A&E) department due to medical needs, healthcare staff will provide appropriate treatment based on their clinical conditions.

     The primary challenge in dealing with rare diseases lies in the small number of cases, resulting in difficulties in diagnosis and treatment. Symptoms of rare diseases are often atypical and non-specific, frequently resembling common ailments. Additionally, these symptoms may affect multiple organ systems, leading patients to consult various medical specialties without obtaining a comprehensive understanding of their condition. Apart from clinical examinations, diagnosis may also require some high technology testings, such as genetic testings, thereby prolonging the diagnostic process.

     For hereditary rare diseases such as osteogenesis imperfecta and X-linked hypophosphataemia, the clinical genetics service of the HA provides one-stop cross-disciplinary support for patients with genetic disorders (including rare diseases) and their families, in line with the latest developments in genomic medicine in Hong Kong. Patients who are affected or suspected to be affected by various genetic diseases and other rare diseases as well as their families will be referred to the Department of Clinical Genetics of Hong Kong Children's Hospital for one-stop services, including assessment, testing, diagnosis, treatment, counselling and prevention services. Adhering to the principle of "providing holistic care for patients", the HA adopts an integrated service model in providing holistic medical and rehabilitation services to patients with rare diseases through multi-disciplinary and inter-departmental teams, comprising doctors, nurses, pharmacists, clinical psychologists, rehabilitation specialty nurses, physiotherapists, dietitians, occupational therapists, speech therapists, prosthetist-orthotists, medical social workers, etc.

     In addition, the Hong Kong Genome Institute launched the Hong Kong Genome Project since 2021, covering rare diseases associated with genomics and precision medicine, such as mucopolysaccharidosis and Marfan syndrome. Eligible patients and their family members are recruited through public hospitals to undergo whole genome sequencing on a voluntary basis. The sequencing results assist precise diagnoses and provide key basis for prognosis assessment and treatment decisions. The Government will continue to advance the implementation of the initiative under the 2024 Policy Address in developing precision medicine.

     Regarding Neuromyelitis Optica (NMO) as mentioned in the question, it is an extremely rare autoimmune disorder in which the immune system of the patient attacks his/her own optic nerves and spinal cord, causing damages to optic neuritis and transverse myelitis. As a result, patients are typically managed by ophthalmologists or neurologists. Joint consultations will be arranged as needed, along with relevant investigations.

     In cases where these patients need to attend the A&E department due to relapses and presentation of symptoms, they will undergo assessment and triage by nurses under the prevailing triage system at the A&E department. The treatment priority is determined based on the severity of their condition. The HA's service targets stipulate that all critical patients (Triage 1) are to receive immediate treatment (i.e. 100 per cent immediate treatment), while emergency (Triage 2) patients and urgent (Triage 3) patients will be prioritised for treatment upon arrival at the A&E department, the targets being that most of the emergency and urgent patients are to be treated within 15 minutes and 30 minutes respectively. Generally speaking, patients experiencing symptoms such as acute vision loss or focal neurological deficits will be triaged as urgent cases (i.e. Triage 3). The A&E department aims to arrange these urgent patients for treatment within 30 minutes. In case the patient concerned has clinical needs, the A&E department will refer him/her to the Department of Ophthalmology for follow-up. The ophthalmology specialist will forthwith assess the condition of the patient and conduct clinical examinations, blood tests and computerised tomography (CT) scans etc, to rule out other conditions that may cause the relevant symptoms. After assessment, patients may be arranged for hospitalisation or referred to the relevant specialist out-patient clinics for treatment and follow-up subject to their conditions. Thank you, President.

Ends/Wednesday, September 10, 2025
Issued at HKT 17:58

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