Johannesburg, 21 September 2022: Currently, there are an estimated 6000 – 8000 rare diseases, which affect 350 million people worldwide. Locally, 1 in 15 South Africans are affected by rare diseases. One such rare condition is Gaucher (pronounced go-SHAY) disease (GD) – an inherited disorder which affects multiple organs, with a prevalence of around 1 per 100 000 in the general population. GD is a condition that manifests at different ages, with a wide variety of symptoms and differences in their severity, which makes diagnosis difficult. International Gaucher Day on 1 October therefore aims to improve patients’ quality of life through greater awareness amongst the public and healthcare professionals, and earlier diagnosis of GD.
What causes GD?
GD is an inherited condition that arises when a particular enzyme that is required to break down fatty substrates in the body and turn them into glucose does not function as it should. As a result, GD patients have a progressive build-up of this substrate, resulting in enlarged cells known as ‘Gaucher’ cells. These ‘Gaucher’ cells accumulate in organs throughout the body, predominantly affecting the bone marrow, liver, and spleen.
Types of GD and associated symptoms
There are three types of GD, based on the extent of nervous system involvement and its severity. Type 1 features various blood abnormalities, such as low platelet levels, low white blood cell count and anaemia, an enlarged liver and/or spleen, bone crises and/or osteoporosis, and exhaustion. Type 2 is the rarest and includes severe brain damage early in life. Type 3 typically occurs during childhood and ranges in severity: patients have the same symptoms as in type 1, plus some nervous system involvement which results in seizures.
While type 1 GD is the most common form of the disease, different symptoms may arise together and may also vary in severity, so GD patients are often misdiagnosed as having other harmful blood conditions.
Early diagnosis, better lives
There is a general lack of awareness of the early signs and symptoms of GD among non-specialist doctors. In one study, 1 in 6 patients with GD reported a delay of 7 years or more in getting a diagnosis after first consulting a doctor. It is therefore extremely important that you take note of any unusual health signs and symptoms that you may be experiencing and report them to your doctor timeously, as early diagnosis and treatment play a key role in improving quality of life for GD patients.
How does one test for GD?
Although GD is rare, doctors should consider testing for rare diseases when other blood disorders have been excluded or when testing for blood diseases. Your doctor may refer you to a specialist or have your blood tested through North West University (NWU), where global pharmaceutical company Sanofi and the NWU Centre of Human Metabolomics, headed by Prof. Chris Vorster, have partnered to test for various rare diseases in South Africa, including GD, using dried blood spot samples.
Prof. Vorster says that patients with rare conditions such as GD need a multidisciplinary team to work together in order to find and treat them. “Interventions can enhance a patient’s quality of life through improvement or restoration of their physical function, so that they may carry out regular daily activities,” says Vorster.
Rare, but not alone!
Rare Diseases South Africa (RDSA) is a non-profit organisation which advocates to ensure that people living with rare diseases and congenital disorders experience greater recognition, support, improved health service and better overall quality of life. Newly diagnosed patients can therefore rest assured that there is a community out there where they can receive help, support and counselling.
Monique Nel, Medical Advisor – Rare Diseases at Sanofi, says: “It is vital for patients to get tested early to gain a definitive diagnosis of GD so that treatment may be started to prevent progression of the disease, as well as to improve quality of life. However, we understand how difficult it can be for healthcare professionals to diagnose the disease. Through our partnership with RDSA and continued educational efforts, the hope is that we can raise greater awareness of GD amongst both potential patients and doctors, so that a timely diagnosis can be made.”
References
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505568/pdf/EMMM-11-e10486.pdf Accessed September 2022.
- https://www.rarediseases.co.za/ Accessed August 2022.
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- Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clinical Cases in Mineral and Bone Metabolism 2015;12(2):157-164.
