An analysis of 112 acute porphyric attacks in Cape Town, South Africa

Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms. We describe our experience with 112 consecutive attacks observed and treated in 25 patients with the 2 most common forms of acute porphyria in Cape Town, South Africa; 25 attacks in 10 patients with variegate porphyria and 87 attacks in 14 patients with acute intermittent porphyria. The remaining patient experienced more than 100 sequential, severe, and poorly remitting attacks, which are not included in our analysis. In our population, the relative risk of an acute attack in acute intermittent porphyria compared with that in variegate porphyria was 14.3 (confidence intervals, 6.3-32.7). Patients with variegate porphyria were significantly older (median age at first attack, 30 yr) than those with acute intermittent porphyria (median age at first attack, 23.5 yr; p < 0.0001), and demonstrated an equal sex ratio, whereas the male:female ratio in acute intermittent porphyria was 2:12 (p < 0.0001). There was a significant difference in the incidence of factors precipitating the acute attack. Drug exposure was a frequent precipitant of the acute attack in variegate porphyria, whereas hormonal factors were more important in acute intermittent porphyria (p < 0.00001). Patients with acute intermittent porphyria also showed a trend to earlier and more frequent recurrent acute attacks following the initial admission. Mean urine precursor levels, blood pressure, pulse rate, and heme arginate requirement were all significantly higher in patients with acute intermittent porphyria. No significant difference in the frequency of serious complications or in outcome could be shown. We describe our experience with treatment with heme arginate, and provide evidence that heme arginate results in a prompt and statistically significant improvement in symptoms. The incidence of serious complications and mortality in this series was low, confirming a trend to an increasingly good prognosis for patients with acute porphyria who receive expert treatment

HIV viraemia during pregnancy in women receiving preconception antiretroviral therapy in KwaDukuza, KwaZulu-Natal

Background: Preconception antiretroviral therapy (PCART) followed by sustained viral suppression is effective in preventing mother-to-child transmission of HIV. The rates of persistent and transient viraemia in such patients have not been prospectively assessed in South Africa. Objectives: We determined the prevalence of transient and persistent viraemia in HIV-positive women entering antenatal care on PCART and studied variables associated with viraemia. Methods: We performed a prospective cross-sectional observational study of HIV-positive pregnant women presenting to a primary healthcare facility in KwaZulu-Natal. All had received at least 6 months of first-line PCART. Viral load (VL) was measured, patients were interviewed, adherence estimated using a visual analogue scale and adherence counselling provided. Viral load was repeated after 4 weeks where baseline VL exceeded 50 copies/mL. Results: We enrolled 82 participants. Of them, 59 (72%) pregnancies were unplanned. Fifteen participants (18.3%) were viraemic at presentation with VL > 50 copies/mL. Of these, seven (8.5%) had viral suppression (VL < 50 copies/mL), and eight remained viraemic at the second visit. Adherence correlated significantly with viraemia at baseline. Level of knowledge correlated with adherence but not with lack of viral suppression at baseline. Socio-economic indicators did not correlate with viraemia. No instances of vertical transmission were observed at birth. Conclusions: Approximately 20% of women receiving PCART may demonstrate viraemia. Half of these may be transient. Poor adherence is associated with viraemia, and efforts to encourage and monitor adherence are essential. The rate of unplanned pregnancies is high, and antiretroviral therapy programmes should focus on family planning needs of women in the reproductive age group to prevent viral non-suppression prior to pregnancy

Prevalence of breast tuberculosis: Retrospective analysis of 65 patients attending a tertiary hospital in Durban, South Africa

Background. Breast tuberculosis (BTB) is uncommon, but not rare. Knowledge of the ways in which it can present can prevent unnecessary invasive procedures and delay in diagnosis.Objectives. To describe the clinical and radiological findings in patients with BTB, including evaluation of current treatment methods.Methods. We retrospectively analysed 65 patients diagnosed with BTB at Addington and King Edward VIII hospitals, Durban, South Africa, between 2000 and 2013. Demographic, clinical and radiological findings and treatment outcomes were noted.Results. A total of 11 092 patients underwent breast investigations between 2009 and 2013, with a prevalence of BTB for the period of 0.3% (30 patients). Of the 65 patients diagnosed between 2000 and 2013, 64 were female (98.5%) and one was male (1.5%). The age range was 23 - 69 years (mean 38.5). The most common mammographic pattern was density (39.4%) and the least common a mass (6.1%). Isolated axillary lymphadenitis was found in 12.1%. Abscess was the commonest ultrasound pattern (39.0%). Of the 47 patients with a known history of pulmonary tuberculosis (TB), 68.1% (n=32) did not have radiological evidence of previous or concurrent pulmonary TB, nor was there evidence of TB elsewhere. Of 47 patients with known HIV status, 34 were HIV-positive. Fine-needle aspiration cytology had sensitivity of only 28% compared with 94% for histology. Of those treated, 72.7% obtained full resolution following 9 months of TB treatment; 25.0% did not complete treatment, and 2.3% (n=1) died while on treatment. Follow-up data on relapse rates after treatment completion and disease resolution are scanty.Conclusion. Understanding and being aware of the various presentations of BTB make it possible to treat most patients successfully

Fifty years of porphyria at the University of Cape Town

The porphyrias are a group of disorders resulting from defective haem biosynthesis. One form, variegate porphyria, is common in South Africa as a result of a founder effect. Over the past 50 years, the University of Cape Town Faculty of Health Sciences has built and maintained an international reputation for excellence in the field of porphyria. The porphyria group is respected for its research and for its accumulated experience in the management of these disorders. Equally important has been the comprehensive and holistic care offered to patients with porphyria, and to their families

Variegate porphyria in South Africa, 1688 - 1996 - new developments in an old disease

Variegate porphyria, an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase, the penuttimate haem biosynthetic enzyme, is characterised clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease has an exceptionally high frequency in South Africa,owing to a founder effect. The specific mutation in the protoporphynnogen oxidase gene sequence which represents this founder gene has been identified. Genetic diagnosis is therefore now possible in families in whom the gene defect is known. However, the exact nature and degree of activity of the porphyria can only be determined by detailed quantitative biochemical analysis of excreted porphyrins. The relative contributions of the acute attack and the skin disease to the total disease burden of patients with variegate porphyria is not static, and in South Africa there have been significant changes over the past 25 years, with fewer patients presenting with acute attacks, leaving a greater proportion to present with skin disease or to remain asymptomatic with the diagnosis being made in the laboratory. The most common precipitating cause of the acute attack of VP is administration of porphyrinogenic drugs. Specific suppression of haem synthesis with intravenous haem arginate is the most useful treatment of a moderate or severe acute attack. Although cutaneous lesions are limited to the sun-exposed areas, management of the skin disease of VP remains inadequate

The impact of basic dermatology education and training on primary healthcare providers in KwaZulu-Natal, South Africa

Background: Dermatological diseases are amongst the commonest reasons for consultation at primary care level. Yet, dermatology teaching in medical and nursing curricula is inconsistent and often insufficient to enable medical and nursing professionals to manage these conditions effectively.Methods: We tested the knowledge of 100 doctors and 195 nurses who attended dermatology training sessions held in three health districts in the province of KwaZulu-Natal (KZN), South Africa, by using a quasi-experimental uncontrolled before-and-after study design. At the start of the session, participants were exposed to 15 slides representing common dermatological conditions; this was followed by a test. The participants then attended a series of short lectures followed by the same test. Pre- and post-intervention test scores were compared, and the results were analysed by professional status, health district and type of facility.Results: The mean (standard deviation [SD]) pre-intervention test score was 40.6% (20.5%). Doctors scored significantly higher than nurses (p 0.0001). There were significant differences in performance by district (p 0.001) and type of facility (p 0.001). The mean (SD) post-intervention score improved to 68.7% (22.5%).Conclusion: Doctors and nurses working in the primary care sector appear to be insufficiently trained in the management of common dermatological conditions. A short period of in-service training resulted in an immediate, significant improvement in knowledge, although we did not study long-term retention beyond this. We recommend improved prequalification training in dermatology in medical and nursing schools and an expansion of continuing professional development as well as in-service training opportunities for primary care practitioners