(The genetics of) breast cancer
Big news recently was Angeline Jolie’s ‘medical choice’ to have a preventive double mastectomy.1 Co-incidentally the SAMJ had received articles dealing with breast cancer, including its genetic diagnosis, and several relating to maternal and neonatal health. We opted to make this August issue a Women’s Month edition.
The incidence of breast cancer in sub-Saharan Africa (SSA) is reportedly low at 20 cases per 100 000 population, compared with 90/100 000 in the West. However, this undoubtedly reflects under-diagnosis, especially since breast cancer is closing in on cervical cancer as the most common malignancy affecting women, and the incidence rates appear to be rising.
In developed countries, breast cancer is a disease of older women. However, in SSA, more than 50% of patients are premenopausal. In developing and resource-poor countries women present very late – in the Eritrean study in this issue,2 over 70% of patients sought consultation more than 1 year after noticing symptoms. Not surprisingly 1 in 5 of such women had advanced stage disease and distant organ metastasis. Many women had resorted to ‘traditional’ therapy (e.g. herbal medicine, holy water, soil), which further exacerbated their poor outcome and prognosis.
The situation is happier in our own country – as our vivid guest editorial notes. We are fortunate to have available modern diagnostic technology, including sophisticated genetic testing.3
An editorial from Urban4 contains advice for the
generalist on how to avoid ordering genetic tests that,
without appropriate genetic counselling5 of patient and family members,
would prove frivolous – ‘recreational’ is his term – and even
potentially harmful.
Mother and child health - outlook for South Africa
South Africa (SA) is a long way off from
meeting Millennium Development Goals 4 and 5 by 2015. However,
an editorial from Burton6
offers a glimmer of hope, and one from Lloyd and de Witt,7
shows – based on their experience at the Steve Biko Academic
Hospital – how simple measures undertaken by midwives, could
improve outcomes. On a related note, Schoon,8
writing of the experience in the Free State, where maternal
mortality rates are among the highest in South Africa,
provides a valuable insight: by the simple expedient of
arranging that there be dedicated inter-facility transport for
pregnant mums in trouble, maternal mortality was dramatically
reduced (see figure below).
HIV and maternal mortality
The HIV pandemic has become
increasingly feminised, with HIV prevalence among antenatal
clinic attendees at 30%, (even higher in the Pietermaritzburg
area, at 42%). HIV/AIDS is thus the major cause
of maternal deaths. Given the scarcity of intensive care unit
(ICU) facilities in our public sector environment, it seems
reasonable to ask, as Ngene et al. 9 do, whether
HIV-positive pregnant women should receive ICU care or not. In a prospective study, they
determined the maternal and fetal outcomes of HIV-positive and
-negative patients, whether pregnant or postpartum, and
constituting almost 10% of all admissions to ICUs. The chief
pre-ICU admission diagnosis was pre-eclampsia/eclampsia
syndrome, more common among HIV-negative than HIV-positive
patients. Among HIV-positive patients, pneumonia, reflecting
immune suppression, was the most common diagnosis. All
maternal and fetal outcomes showed a worse trend with
HIV-positive v. HIV-negative patients. These findings are
likely to favour HIV-negative pregnant women, with their
better-expected outcomes, over their HIV-positive counterparts
for admission to ICU. Larger studies are urgently needed to
investigate these trends more completely. The authors believe
that, until such studies are done, HIV sero-status should not be used as an isolated
determinant of admission to ICU.
High-risk patients, expertly guided, can benefit from PrEPs
When it comes to treatment, very few HIV clinicians
dispute the overall efficacy of increasing the CD4+ count
threshold from 350 to 500 in initiating antiretroviral therapy
(ART) (a probability from 1 April 2014), or the value of
fixed-dose combinations. The same goes for prevention (e.g.
circumcision, vaginal-based microbicides best applied before
and after predictable sex, or condoms/femidoms). However, when
it comes to treatment-as-prevention, ranging from ART at
diagnosis of HIV to pre-exposure prophylactics (PrEPs), the
debate heats up, especially with the latter. The PrEP issue
was thoroughly vented at the June/July national AIDS
conference in Durban. Izindaba
reports10
from experts at the coalface on just how, where and for whom
it makes the most sense, and most critically, which high-risk
groups might be most adherent. Much of it is based on
pragmatic common sense, e.g. (generally) why would a
discordant couple use PrEPs when antiretrovirals with condoms
pretty much do the trick? Field studies show appalling
adherence to PrEPs, but in the real world, sex workers are
already showing 95% adherence to ART (and they are hyper-aware
of the risks of their trade). Used highly selectively, it is a
handy addition to our self-defence weaponry.
1. Jolie A. My Medical Choice. The New York Times. 14 May 2013. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html (accessed 9 Jul 2013).
2. Tesfamariam A, Gebremichael A, Mufunda J. Breast cancer clinicopathological presentation, gravity and challenges in Eritrea, East Africa: Management practice in a resource-poor setting. S Afr Med J 2013;103(8):526-528. [http://dx.doi.org/10.7196/SAMJ.6829]
3. Grant KA, Apffelstaedt JP, Wright C, et al. MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer. S Afr Med J 2013;103(8):522-526. [http://dx.doi.org/10.7196/SAMJ.7223]
4. Urban M. Clinical issues in genetic testing for multifactorial diseases. S Afr Med J 2013;103(8):517. [http://dx.doi.org/10.7196/SAMJ.7232]
5. Dandara C, Greenberg J, Lambie L, et al. Direct-to-consumer genetic testing: To test or not to test, that is the question. S Afr Med J 2013;103(8):510-512. [http://dx.doi.org/10.7196/SAMJ.7049]
6. Burton R. Maternal Health: There is cause for optimism. S Afr Med J 2013;103(8):520-521. [http://dx.doi.org/10.7196/SAMJ.7237]
7. Lloyd LG, de Witt TW. Neonatal mortality in South Africa: How are we doing and can we do better? S Afr Med J 2013;103(8):518-519. [http://dx.doi.org/10.7196/SAMJ.7200]
8. Schoon MG. Impact of inter-facility transport on maternal mortality in the Free State Province. S Afr Med J 2013;103(8):534-537. [http://dx.doi.org/10.7196/SAMJ.6828]
9. Ngene NC, Moodley J, Songca P, et al. Maternal and fetal outcomes of HIV-infected and non-infected pregnant women admitted to two intensive care units in Pietermaritzburg, South Africa. S Afr Med J 2013;103(8):543-548. [http://dx.doi.org/10.7196/SAMJ.6590]
10. Bateman C. Neglected, high-risk groups a top priority in AIDS prevention/treatment. S Afr Med J 2013;103(8):503-505. [http://dx.doi.org/10.7196/SAMJ.7201]
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