The medical community is beginning to shine a little light on X-linked female carriers of Chronic Granulomatous Disease (CGD). Symptoms can range vastly from patient to patient, and healthcare professionals remain largely unfamiliar with this rare genetic condition.
While some X-linked female carriers of CGD have no manifestations, many experience symptoms such as painful mouth ulcers or mysterious skin rashes, abscesses and acne, while other carriers may experience lupus symptoms or chronic fatigue.
One major challenge facing this community is the misconception that a carrier’s level of functioning neutrophils remains constant within her lifetime. However, a study in Annals of Hematology strongly contradicts this, showing that one patient had 40% functioning neutrophils at 21 years old and 6% to 8% functioning neutrophils at 45 years old. As a result, this patient faced increased susceptibility to life-threatening infections.
Dr. Andrew Gennery, a consultant at Newcastle University, United Kingdom, spoke at the IDF 2015 National Conference Special CGD Symposium and discussed X-linked female carriers of CGD. Dr. Gennery has worked on several recently published studies,  which show that female carriers may suffer from similar problems experienced by patients with CGD. Some of his findings include:
- Carriers may experience “lupus-like” skin issues, as well as recurring abscesses
- Inflammation of the lymph glands was also seen frequently
- Half reported gastrointestinal problems
- Features of autoimmune disease, including mouth ulcers, photosensitive skin and pain were commonly seen
- The average anxiety score in X-linked CGD carriers was higher than the definition of anxiety and 40 out of 61 X-linked CGD carriers had at least mild anxiety symptoms
- X-linked CGD carriers had significantly lower scores in all aspect of quality of life than the normal UK population
The good news is that, as awareness continues to grow, more CGD carriers are coming forward, getting informed, and taking charge of their health.
For example, family planning is one area where this comes to bear, and some female carriers have reported using pre-implantation genetic diagnosis (PGD) to screen for CGD. It is recommended that all carriers speak with their healthcare providers and genetic counselors prior to having children.
While many questions remain, it is important for carriers to pay attention to their symptoms, to speak with their doctors about their genetic profile, and to get tested if CGD runs in their family.
If you’re an X-linked CGD carrier and would like to share your story, please get in touch at: email@example.com.
Thanks to Horizon Pharma, financial aid is available for patients who are interested in taking a Dihyrorhodamine (DHR) testing – a diagnostic screening for CGD administered in laboratories and larger medical centers. To find out more, please click here.