Unilateral absent pulmonary artery (UAPA) is a congenital abnormality rarely diagnosed in adults. UAPA has a myriad of clinical presentations and pulmonary hypertension is present in a quarter of all cases. Isolated UAPA commonly affects the right pulmonary artery and occurs as a result of abnormal development of the sixth aortic arch segment. Due to its rarity, it remains a diagnostic and therapeutic challenge. We describe a case of UAPA in an adult presenting with severe pulmonary hypertension. We describe the appropriate diagnostic approach to a patient with pulmonary hypertension and illustrate the importance of a detailed evaluation to determine the underlying aetiology, particularly in rare causes. Furthermore, we review the clinical presentation, diagnosis and management challenges of UAPA in adults.

There are limited data describing acute kidney injury (AKI) in HIV-infected adult patients in resource-limited settings where tenofovir disoproxil fumarate (TDF), which is potentially nephrotoxic, is increasingly prescribed. We describe risk factors for and prognosis of AKI in HIV-infected individuals, stratified by those receiving and those naive to TDF. A prospective case cohort study of hospitalized HIV-infected adults with AKI stratified by TDF exposure. Adults (≥18 years) were recruited: clinical and biochemical data were collected at admission; their renal recovery, discharge, or mortality was ascertained as an in-patient and, subsequently, to a scheduled 3-month follow-up. Among this predominantly female (61%), almost exclusively black African cohort of 175 patients with AKI, 93 (53%) were TDF exposed; median age was 41 years (interquartile range 35–50). Median CD4 count and viral load and creatinine at baseline were 116 cells/mm3 and 110,159 copies/ml, respectively. A greater proportion of the TDF group had severe AKI on admission (61% vs. 43%, p = .014); however, both groups had similar rates of newly diagnosed tuberculosis (TB; 52%) and nonsteroidal anti-inflammatory drug (NSAID; 32%) use. Intravenous fluid was the therapeutic mainstay; only seven were dialyzed. Discharge median serum creatinine (SCr) was higher in the TDF group (p = .032) and fewer in the TDF group recovered renal function after 3 months (p = .043). Three-month mortality was 27% in both groups, but 55% of deaths occurred in hospital. Those that died had a higher SCr and more severe AKI than survivors; TB was diagnosed in 33 (70%) of those who died. AKI was more severe and renal recovery slower in the TDF group; comorbidities, risk factors, and prognosis were similar regardless of TDF exposure. Because TB is linked to higher mortality, TB coinfection in HIV-infected patients with AKI warrants more intensive monitoring. In all those with poor renal recovery, our data suggest that a lower threshold for dialysis is needed.

Haemoptysis is concerning for both patient and healthcare provider and points to the presence of severe underlying lung disease warranting investigation. Approximately 8% of patients with pulmonary tuberculosis (PTB) infection will experience haemoptysis at some point during their life [1;2]. The aetiology of haemoptysis in the setting of PTB is diverse and may occur during active or following prior PTB infection due to pulmonary complications. We describe the case of a 33-year-old female who presented with massive haemoptysis on two separate occasions within a five-month period. Her background history included PTB 6 years prior and subsequent post-TB bronchiectasis with a destroyed left lung, and the development of apical mycetoma's. Despite numerous pre-existing aetiologies that could account for haemoptysis in this patient, on this admission, a newly identified ruptured Rasmussen's aneurysm was identified by angiography and successfully treated with arterial embolization. This report serves to highlight the multitude of reasons for haemoptysis in a patient with post PTB lung destruction and the associated diagnostic challenges that may be present. In particular, we highlight the Rasmussen's aneurysm, a rare entity, as a hidden cause of haemoptysis, where despite extensive parenchymal lung disease identified on chest radiography, specialised imaging is needed to confirm the diagnosis.

A 24-year-old man presented to the Chris Hani Baragwanath Academic Hospital emergency department with recurrent seizures having previously been diagnosed with epilepsy from age 14. The biochemical investigations and brain imaging were suggestive of seizures secondary to hypocalcemia, and a diagnosis of idiopathic hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the patient recovered well and is seizure free, and off antiepileptic therapy. This case highlights the occurrence of brain calcinosis in idiopathic hypoparathyroidism; the occurrence of acute symptomatic seizures due to provoking factors other than epilepsy; and the importance, in the correct clinical setting, of considering alternative, and sometimes treatable, causes of seizures other than epilepsy.

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Purpose of review Familial hypercholesterolemia is a genetic disorder of defective clearance and subsequent increase in serum LDL cholesterol (LDL-C) with a resultant increased risk of premature atherosclerotic cardiovascular disease. Despite treatment with traditional lipid-lowering therapies (LLT), most patients with familial hypercholesterolemia are unable to achieve target LDL-C. We review current and future novel therapeutic options available for familial hypercholesterolemia. Recent findings The use of proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors are effective in lowering LDL-C in patients with familial hypercholesterolemia, with a reduction in LDL-C of 60% in heterozygous familial hypercholesterolemia (HeFH) and up to 35% in homozygous familial hypercholesterolemia (HoFH). Inclisiran, another novel agent, is a small-interfering ribonucleic acid that reduces hepatic production of PCSK9 to provide a prolonged and sustained reduction in LDL-C of nearly 50% in HeFH. However, both agents require LDL receptor (LDLR) activity. Evinacumab, a novel monoclonal antibody against angiopoetin-like 3 (ANGPTL3), reduces LDL-C by 50% independent of LDLR activity. Summary Achieving a target LDL-C in familial hypercholesterolemia can be challenging with standard LLT; however, novel therapeutic modalities show remarkable reductions in LDL-C allowing nearly all patients with HeFH and a significant proportion of patients with HoFH to achieve acceptable LDL-C levels.

A germline mutation is identified in almost 40% of Pheochromocytoma-Paraganglioma (PPGL) Syndromes. Genetic testing and counselling are essential for the management of index cases as well as pre-symptomatic identification and pre-emptive management of affected family members. Mutations in the genes encoding the mitochondrial enzyme succinate dehydrogenase (SDH) are well described in patients with hereditary PPGL. Amongst patients of African ancestry the prevalence, phenotype, germline mutation spectrum and penetrance of SDH mutations is poorly characterized. We describe a multifocal paraganglioma in a young African male with an underlying mis-sense SDHB mutation, with a history of three first-degree relatives who demised at young ages from suspected cardiovascular causes. The same SDHB mutation, Class V variant c.724C>A p.(Arg242Ser), was detected in one of his asymptomatic siblings. As there is limited data describing hereditary PPGL syndromes in Africa this report of an SDHB associated PPGL is a notable contribution to the literature in this growing field. Due to the noteworthy clinical implications of PPGL mutations, it highlights the existing need for broader genetic screening amongst African patients with PPGL despite the limited healthcare resources available in this region.