A man in his 60s presented for his medical retina clinic appointment, reporting increasing shortness of breath, aches and pains, and increasing insulin requirements during a difficult early lockdown. Wide-field colour fundus imaging (Optos Optomap) and an optical coherence tomography scan (Heidelberg Spectralis) revealed whitened and enlarged hyper-reflective vessels. Retinal colour photography also confirmed a creamy white discolouration of the vessels, which prompted the team to order a lipid profile. The profile showed a raised cholesterol level of 17.5 mmol/L (normal: <4mmol/L) and a marked elevated triglyceride level of 38.41 mmol/L (normal: <1.7 mmol/L).The clinical picture, alongside the biochemical results, suggested a diagnosis of secondary lipaemia retinalis due to poorly controlled diabetes. With aggressive treatment, the patient’s biochemistry and vessels returned to baseline.This rare condition should be taken as an indicator of a potential underlying life-threatening medical condition and the role an ophthalmologist has in initiating potential lifesaving intervention.
Amyloidosis is a disease associated with deposits of amyloid fibrils that aggregate in various tissues leading to progressive organ failure and often multi-systemic involvement. It may be classified as localized or systemic, acquired or hereditary. Renal presentation is variable but can include nephrotic syndrome, acute renal failure, tubular dysfunction, or just varying degrees of proteinuria. Although most cases of renal amyloidosis are due to acquired causes, in rare instances, the cause can be gene mutations leading to hereditary amyloidosis. We present the case of a 77-year-old Caucasian man diagnosed with renal biopsyproven AL (kappa) type amyloidosis with isolated renal involvement who had a significant family history of renal biopsy-proven amyloidosis.
Background Since their recent discovery of zinc transporter 8 antibodies (ZnT8A) by Wenzlau et al. in 2007, the relevance and clinical utility of this marker has been in question. Some recent reports have shown a wide potential for both diagnostic as well as prognostic clinical applications in T1DM as they can be found years before clinical symptoms appear. Understanding the timing of the seropositivity of antibodies such as ZnT8A can help us understand how to utilize this marker for the diagnosis and prognosis of T1DM. Up to 20% of T1DM patients are reported to have ZnT8A positive with negative GAD-65 and IAA autoantibodies. The duration of seropositivity of ZnT8A is unclear. We describe 2 cases from our endocrine clinic with significant zinc 8 transporter antibody titers over 8 - 26 years after their initial diagnosis. Clinical Cases CASE 1: 34-year-old man diagnosed initially with T2DM 9 years prior and later re-classified as T1DM. He was treated initially with oral agents and switched over to Multiple Daily Injection (MDI) insulin about 3-4 years later. He has no family history of diabetes. Approximately 8 years after his initial diagnosis, his autoantibodies profile showed a positive zinc transporter 8 antibody of 28 U/mL (reference of < 15 U/mL), but negative GAD-65 antibodies (reference <5 IU/mL) and negative Islet cell antibodies. CASE 2: 47-year-old man diagnosed with T2DM in 1995 and was initially started on oral hypoglycemic medications. He was later evaluated at our endocrinology clinic and reclassified as type 1 DM after his serologic testing showed a low C peptide < 0.1 ng/mL, positive zinc transporter 8 antibody of 32 U/mL (reference of < 15 U/mL), and negative islet cell antibody screen negative, and negative GAD-65 antibodies (reference <5 IU/mL). He was transitioned to continuous glucose monitoring and an insulin pump, but was too difficult for the patient to manage. He was ultimately transitioned to a basal-bolus regimen of insulin with MDI. His latest serologic testing showed a HgA1C of 9.2%. Conclusions Zinc 8 transporter antibody can help differentiate type 1 from type 2 diabetes and initiate insulin therapy for better glycemic control as well as aid in prognosis and stratification strategies. The duration of seropositivity of ZnT8A has not been clearly established. Previous reports have shown that ZnT8A can be detected at an age around 3 years of age, but peaks around late adolescence and does not have a significant decline in seropositivity rates in older adults, as does IAA. This emphasizes the use of ZnT8A as a useful marker in adult and elderly patients. We describe 2 case reports which indicate that ZnT8 antibodies can remain positive for at least 8 - 26 years in the absence of other autoantibodies. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
Diabetic muscle infarction (DMI) is a rare yet serious complication that has been strongly associated with uncontrolled diabetes, although other risk factors are unclear. DMI is an uncommon complication of diabetes with a lack of structured guidelines for evaluation or management. End-stage renal disease (ESRD) could have further implications in patients with DMI in terms of management given that nonsteroidal anti-inflammatory drugs (NSAIDs), which have been shown to reduce the recovery times and recurrence of DMI, could be contraindicated. We present a rare case of DMI in an African American man with ESRD who presented for new-onset right lower-extremity pain and swelling. We discuss the challenges involved with the diagnosis and treatment of this rare condition. This case adds to the knowledge of DMI, which is limited because of the low incidence of this condition, and it helps us understand how this condition affects the African American population and patients with ESRD.
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