Background: Primary hyperparathyroidism (PHPT) is typically a persistent disorder caused by a parathyroid adenoma requiring surgical intervention. Transient PHPT (tPHPT) refers to a rare phenomenon in which spontaneous normalization of hypercalcemia and PTH occurred without surgical or pharmacological intervention. The most common cause of tPHPT is spontaneous infarction or hemorrhage of adenoma. We report a unique case of tPHPT following upper respiratory infection (URI) in a patient without identifiable adenoma, suggesting a transient inflammatory 'parathyroiditis' mechanism. Case presentation: A 60-year-old woman was referred for evaluation of asymptomatic hypercalcemia (serum calcium 11.3–11.4 mg/dL) identified during preoperative testing for lingual tonsillectomy. Her ionized calcium was 5.9–6.1 mg/dL. She also developed inappropriately normal followed by elevated iPTH (57–110 pg/mL). The biochemical peak occurred after several episodes of URI. The patient had no history of renal disease or malignancy, and no use of thiazides, lithium, or vitamin D/calcium supplements. Laboratory evaluation, including creatinine, 25-hydroxyvitamin D, and CASR gene sequencing, was unremarkable. Neck ultrasound revealed multinodular goiter and mild hypervascularity but no parathyroid abnormalities. Without intervention, serum calcium, iPTH, and alkaline phosphatase spontaneously normalized (calcium 9.1–9.6 mg/dL, iPTH 37–38 pg/mL, ALP 105-117 IU/L) within 4, 8, and 11 months, respectively. Remission has persisted for over three years. Conclusion: Transient PHPT may occur via a post-viral, non-infarction mechanism. In PHPT patients with recent viral illness and no localized adenoma on imaging, a period of biochemical observation may be appropriate to prevent unnecessary surgery.
Background: Advances in cancer therapy have substantially improved survival in patients with malignant disease, but they have also revealed new long-term complications, including cardiovascular and metabolic adverse effects. Dyslipidaemia is a clinically important complication of several anticancer therapies. It is particularly frequent and pronounced during treatment with lorlatinib, a third-generation anaplastic lymphoma kinase (ALK) inhibitor used in ALK-positive non-small cell lung cancer (NSCLC). Case presentation: We report the case of a 75-year-old woman with advanced ALK-positive NSCLC who was initially treated with alectinib, which was discontinued because of hepatotoxicity. After initiation of lorlatinib, the patient developed severe dyslipidaemia within 8 days, with total cholesterol increasing to 20.3 mmol/L and triglycerides to 42 mmol/L. Combination lipid-lowering therapy with rosuvastatin, fenofibrate and later ezetimibe led to partial stabilisation of the lipid profile. In June 2025, evolocumab was added, resulting in a 70% reduction in total cholesterol and an approximately 76% reduction in triglycerides. This allowed continuation of effective anticancer therapy. The patient has remained clinically stable for more than 5 years without progression of the oncological disease. Conclusion: Lorlatinib-induced dyslipidaemia may be severe, rapid in onset and clinically challenging. Early lipid monitoring, prompt lipid-lowering treatment and multidisciplinary cooperation between oncologists, internists, cardiologists and lipid specialists are essential. In selected patients with refractory dyslipidaemia, PCSK9 inhibitors may represent an effective therapeutic option that enables continuation of life-prolonging oncological treatment.
Background: MCT8 deficiency is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. It results in a state of T3 deprivation in the brain from early development, leading to severe psychomotor impairment and peripheral hyperthyroidism. Endocrinological symptoms develop over time due to thyrotoxicosis in tissues outside the brain. Methods: We present a case series of three male patients with genetically confirmed MCT8 deficiency. Results: All three patients exhibit profound psychomotor delay, with axial hypotonia, limb dystonia, and bradykinesia as consistent features. Genetic analysis identified three distinct SLC16A2 variants: two missense mutations (Thr353Pro and Ser232Phe) and one nonsense mutation (Glu144∗). The characteristic thyroid hormone profile of MCT8 deficiency – high T3, low T4 and reverse T3, and normal TSH – was observed in all cases. Conclusion: These cases illustrate the clinical and genetic heterogeneity of MCT8 deficiency, highlighting the key challenges faced by patients and their caregivers, and the need for earlier diagnosis.
Aims: Teplizumab is the only disease-modifying immunotherapy approved by the FDA and EMA for the delay of Type 1 diabetes mellitus (T1D) progression from the presymptomatic stage 2 to the symptomatic stage 3 of the disease. Teplizumab is available in Italy through the compassionate individual patient request program since october 2024. Here we report real world data and experience of treating a 19-year-old male with stage 2 T1D. Methods: A 19-years-old male with and preexisting autoimmune thyroiditis was diagnosed with stage 2 T1D in an ambulatorial setting through routine check-up for glycemia followed by autoantibodymeasurement. The patient was treated for fourteen consecutive days with teplizumab in a Day Hospital (DH) setting, according to the treatment protocol and has been followed hereafter for twelve months. Results: Treatment was well-tolerated, six and twelve months after treatment glycemic status and beta-cell function have remained stable. The lymphocytes dynamicswas consistent with teplizumab's mechanism of action. Conclusions: Our real-world experience provides important clues on the feasibility and protocol adaptation in a DH setting.
Background: Cushing's disease (CD) is a rare yet significant cause of secondary hyperandrogenism and menstrual disturbances in women of reproductive age. The clinical manifestations of CD may closely resemble those of polyendocrine metabolic ovarian syndrome (PMOS), potentially resulting in delayed diagnosis and increased risk of complications. Accurate differentiation between these conditions requires thorough clinical assessment and a systematic biochemical evaluation. Case presentation: A 20-year-old nulligravid woman experienced a two-year progression of menstrual irregularities culminating in amenorrhea, along with hirsutism, acne, and proximal muscle weakness. Physical examination identified classic cushingoid features, including facial plethora, dorsocervical and supraclavicular fat pads, wide violaceous striae, and skin thinning with ecchymosis. Biochemical analysis revealed severe hyperandrogenism with inappropriately suppressed gonadotropins. Hypercortisolism was confirmed by loss of the diurnal cortisol rhythm and failure to suppress cortisol during dexamethasone suppression testing. Elevated plasma ACTH indicated an ACTH-dependent process, and high-dose dexamethasone suppression testing suggested a pituitary origin. Pituitary MRI detected a 6 mm microadenoma. The patient underwent transsphenoidal resection, and histopathology confirmed a benign corticotropin-secreting pituitary adenoma. Postoperative cortisol levels were appropriately low, requiring hydrocortisone replacement therapy. At three-month follow-up, menstrual cycles resumed and androgen levels normalized.Although inferior petrosal sinus sampling was not available in this setting, the diagnosis was substantiated by biochemical, radiological, histopathological, and postoperative evidence. Conclusions: This case highlights the diagnostic challenges of Cushing's disease presenting with significant hyperandrogenism and menstrual irregularities, which may initially be diagnosed as PMOS. Maintaining a high level of clinical suspicion and performing systematic biochemical screening for hypercortisolism are essential in young women with a PMOS-like presentation, especially when atypical features such as proximal muscle weakness, violaceous striae, or cushingoid habitus are present. Early recognition and diagnosis are vital to prevent prolonged hypercortisolemia and its related morbidity.
Background Primary hyperparathyroidism (PHPT) and Wernicke’s encephalopathy (WE) are rare but potentially life-threatening conditions in pregnancy, associated with significant maternal and fetal morbidity. Their coexistence is exceptionally uncommon and poses major diagnostic and therapeutic challenges, requiring a coordinated multidisciplinary approach. Case Presentation We report the case of a 37-year-old multigravida (gravida 5, para 4+0) at 23 weeks and 6 days of gestation who presented with acute epigastric pain, vomiting, and rapidly progressive altered mentation progressing to obtundation. Her history was notable for recurrent nephrolithiasis and suspected parathyroid disease. Investigations revealed severe hypercalcemia (peak 3.29 mmol/L), markedly elevated parathyroid hormone (124 pg/mL), acute pancreatitis, leukocytosis, and lobar pneumonia. Brain MRI demonstrated characteristic findings of WE. Abdominal ultrasound showed cholelithiasis and steatohepatitis, while obstetric ultrasound confirmed a viable fetus. She was admitted to the intensive care unit and treated with high-dose intravenous thiamine, broad-spectrum antibiotics, aggressive intravenous hydration, diuretics, calcitonin, hydrocortisone, and cinacalcet. Despite maximal medical therapy, hypercalcemia persisted. Following multidisciplinary consensus, parathyroidectomy was performed at 27 weeks’ gestation, confirming a left inferior parathyroid adenoma. Postoperatively, calcium levels normalized and neurological status improved. The patient was discharged in stable condition. The pregnancy progressed without further complications, and she subsequently delivered a healthy neonate with no reported perinatal complications. Conclusion This case underscores the importance of early recognition and multidisciplinary management of PHPT complicated by WE in pregnancy. Timely surgical intervention can be lifesaving and result in favorable maternal and fetal outcomes when medical therapy fails.
Bullous pemphigoid (BP) is an autoimmune disease that is characterized by autoantibodies attacking molecules of the basement membrane that result in destruction of dermal-epidermal connection. BP occurs either idiopathic or secondary to underlying causes such as radiation therapy, exposure to chemical irritants and medications.We present a case of a 68-year-old woman who presented with 3-week history of itchy rash that evolved over time into multiple tense, fluid-filled blisters. The patient had multiple comorbid conditions including type 2 diabetes mellitus and end-stage renal disease, and was on dialysis. She was prescribed semaglutide 4 months prior to initial presentation, for tighter diabetes control. Skin biopsy showed eosinophilic infiltrate in dermal papillae with micro-abscesses. The patient was diagnosed with bullous pemphigoid secondary to semaglutide use. This case highlights the association between semaglutide and BP, and the importance of suspecting BP in patients who take semaglutide.
Psychotic symptoms in Graves’ disease are relatively uncommon and may mimic primary psychiatric disorders which may result in delayed diagnosis and management especially in limited resource settings.We report the case of a 22-year-old male, who presented with gradual onset of psychotic symptoms which were auditory hallucinations , visual hallucinations and psychomotor agitation. Medical therapy with maximum doses of carbimazole, propranolol, and antipsychotics (haloperidol, risperidone, zuclopenthixol decanoate) administered over 18 weeks resulted in only a mild reduction in thyroid hormone levels with no improvement in psychotic symptoms.Following multidisciplinary evaluation, the patient underwent total thyroidectomy. Psychotic symptoms resolved completely within two weeks post-thyroidectomy. Follow-up thyroid hormone monitoring demonstrated normalization of free T3, free T4, and thyroid-stimulating hormone levels.This case emphasizes the importance of routine thyroid function screening in patients presenting with psychotic symptoms, particularly in resource-limited settings. It also highlights the need for timely escalation to surgical management when medical therapy fails.
Background/Objective Liver dysfunction has been reported in patients with hypothyroidism, more commonly in myxedema coma, but acute cholestatic injury from less severe forms of hypothyroidism is rarely reported and is considered as an under-recognized complication of hypothyroidism. We describe a case of acute cholestatic liver injury that is possibly correlated with uncontrolled hypothyroidism, which was dramatically improved after intravenous levothyroxine. Case Report A 32-year-old woman with papillary thyroid carcinoma status post total thyroidectomy 13 years ago on levothyroxine (not complaint with standard administration technique), transferred from an outside institution for acute cholestatic liver injury work up. Patient initially presented with acute onset jaundice, pruritus, dark urine, and pale stools for about 1 week. Labs showed direct hyperbilirubinemia (total 10.1 mg/dL, direct 8.2 mg/dL) and elevated liver enzymes suggesting cholestatic liver injury. Viral, autoimmune, and metabolic workups were negative. Imaging including MRCP revealed hepatomegaly with steatosis and normal bile duct without obstruction. Despite cholestyramine and ursodiol treatment over a week, bilirubin rose to 12.8 mg/dL. Further workup in our institution showed TSH 24.5 mIU/L and Free T4 0.65 ng/dL. Without identifying other contributing factor to the cholestasis and failure of current treatment, patients received a trial of intravenous levothyroxine treatment, with rapid symptom relief and a 40% bilirubin drop in 24 hours. She transitioned to oral therapy three days later after her symptoms were fully resolved, with education of administration precautions. On one month follow up her liver function fully normalized. Discussion This case demonstrates that hypothyroidism without causing myxedema can still precipitate acute cholestasis, with underlying liver steatosis, history of gallbladder dyskinesia, co-administration of Glucagon-Like Peptide-1 receptor agonist (GLP-1 receptor agonist) as a possible risk factor. Conclusion Hypothyroidism should be considered in unexplained cholestatic liver injury. Prompt thyroid hormone replacement may enable rapid recovery and avoid unnecessary interventions.
Introduction A collision tumor is a rare occurrence in which two distinct tumor types coexist within an organ while maintaining distinct borders. Case A 61-year-old female referred to our clinic for the evaluation of a thyroid mass. Ultrasound revealed a large, solid, isoechoic nodule in the right lobe measuring 4.5 × 3.1 cm (TI-RADS category 3). Fine-needle aspiration biopsy was suspicious for a follicular neoplasm, Hürthle cell (oncocytic) type, Bethesda system class IV. The patient underwent right lobectomy, and the final pathology report revealed minimally invasive follicular carcinoma. Completion thyroidectomy revealed papillary carcinoma of the left lobe. Conclusion Managing thyroid collision tumors is challenging due to the presence of two distinct tumors with different biological aggressiveness, treatment options, and prognoses. Addressing how these factors influence treatment planning can enhance understanding of patient management and outcomes.
Background: Fahr's syndrome is a rare neurological disorder with abnormal calcium deposition in the basal ganglia. The case report describes a patient with movement disorders and cognitive decline for four years due to Fahr's syndrome. Case presentation: A 44-year-old Iranian woman presented with movement abnormalities and shuffling gait and cognitive impairment in 2019. She developed muscle cramps and worsening cognitive decline by 2021. The clinical examination showed a positive Chvostek sign, and laboratory tests indicated hypocalcemia, hyperphosphatemia, and low PTH levels. She had no history of neck surgery. Imaging including brain MRI and CT scan confirmed basal ganglia calcification, leading to a diagnosis of Fahr's syndrome due to hypoparathyroidism. Treatment included oral calcium carbonate and calcitriol to manage symptoms. Conclusion: Hypoparathyroidism may be indicated in patients with neuropsychiatric symptoms. Measurement of serum calcium, phosphorus, and PTH levels is suggested to confirm the diagnosis due to common basal ganglia calcification in hypoparathyroidism.
Background: Prolactinomas are the most common pituitary adenomas and are usually microadenomas; however, macroprolactinomas (>4 cm) may lead to significant hyperprolactinemia and mass effects. Dopamine agonists (DAs) are the first-line therapy, while surgery is reserved for cases with resistance to medical treatment or visual compromise. Case summary: A 27-year-old woman with recurrent macroprolactinoma, previously treated with transsphenoidal pituitary surgery five years earlier, presented with secondary amenorrhea, primary subfertility, and persistent headache. Menstrual cycles did not resume after surgery, and headaches persisted. Treatment with cabergoline resulted in a marked reduction in serum prolactin levels, although tumor size showed minimal regression. Five months later, she presented with nausea and vomiting and was found to be pregnant. Cabergoline therapy was continued throughout pregnancy. Serial clinical evaluations demonstrated no tumor enlargement or deterioration in visual function. The patient delivered a healthy infant by cesarean section. In the postpartum period, menstrual cycles resumed and headache severity improved. Management of macroprolactinomas during pregnancy is challenging due to the risk of tumor enlargement. In this case, continued cabergoline therapy effectively prevented tumor progression. Close monitoring with clinical assessment, visual field testing, and imaging was essential. Conclusion: This case illustrates that pregnancy in patients with macroprolactinomas requires vigilant monitoring. Continuation of cabergoline throughout pregnancy was safe and resulted in favorable maternal and neonatal outcomes.
Background Cellulitis is a common bacterial infection involving the dermis and subcutaneous tissue, most often caused by group A streptococcus or methicillin-sensitive Staphylococcus aureus. Rarely, cellulitis may be caused by atypical organisms such as Pseudomonas aeruginosa, particularly in patients who are diabetic or immunocompromised. Clinically, cellulitis presents as a poorly demarcated, spreading, edematous, and erythematous lesion, which may develop bullae and vesicles. Bullous cellulitis is more commonly associated with Staphylococcal or group A streptococcus infections if present. Objective The purpose of this study is to present a case of a bullous cellulitis caused by Pseudomonas aeruginosa in a patient with type 2 diabetes mellitus (DM2) and HIV, and to discuss the importance of tailoring antimicrobial therapy based on patient-specific risk factors. Methods A retrospective case study was conducted using medical chart data from a single patient treated at an urban tertiary care safety-net hospital. Limitations Due to the recent nature of the case and the patient's outpatient follow-up at an external facility, follow-up data is limited. Conclusion This case reinforces the importance of individualizing empiric antibiotic therapy in patients with known risk factors such as diabetes or immunocompromised status. Specific patient risk factors, if present, should prompt clinicians to broaden their differential and adjust treatment accordingly. Early recognition and personalized management may improve clinical outcomes in cellulitis.
Background Adrenal Insufficiency is an uncommon disease, presenting with relatively vague signs and symptoms making diagnosis highly challenging [1]. Generalized weakness, anorexia, fatigue, malaise, and weight loss are some examples of how a patient may present. We present a case of secondary adrenal insufficiency with evidence of peritoneal caking suggestive of, but unconfirmed as, granulomatous disease. Case presentation A 31-year-old male presented complaining of a one-month history of nausea, fatigue, and loss of appetite. Clinical examinations revealed tachycardia, altered mental status, and signs of dehydration. Hyperpigmentation of the oral mucosa and lips was evident, in addition to abdominal striae. Laboratory evaluation revealed normal serum potassium (4.2 mmol/L), hypercalcemia (3.35 mmol/L), and hypercalciuria. A diagnosis of adrenal insufficiency was confirmed by the Short Synacthen Test (SST) result which revealed: Baseline cortisol: 336 nmol/L, 30 min: 374 nmol/L, 60 min: 362 nmol/L, AM ACTH: 21.3 pg/mL. Adrenal CT showed normal adrenal glands. Pan-CT revealed nodular peritoneal thickening with omental caking; however, peritoneal biopsy was negative for tuberculosis and malignancy. The patient started glucocorticoid replacement therapy and showed improvement on follow-up. Conclusion Secondary adrenal insufficiency can present with rare and non-classic findings such as abnormal biochemical results and imaging features suggestive of infiltrative disease. This case highlights the importance of considering secondary and infiltrative causes in atypical presentations while acknowledging that definitive histological confirmation may not be obtained [2].
Background/objective Simultaneous skeletal muscle and bone metastases in thyroid carcinoma are exceedingly uncommon. The objective of this report is to describe diagnostic and management challenges of thyroid cancer presenting with distant metastases over a decade after initial lobectomy. Case presentation A 47-year-old man presented with a history of left thyroid lobectomy for a presumably benign nodule (pathology unavailable). Twelve years later he was found to have a 1.9 cm left thyroid nodule with calcifications. Fine-needle aspiration revealed atypical cells of undetermined significance, and subsequent left hemithyroidectomy revealed benign hyperplastic nodule. Follow-up imaging identified new right thyroid nodules that progressively enlarged over three years but were cytologically benign on repeated fine needle aspirations. He then presented with left deltoid muscle mass, which was excised, and pathology revealed nodular thyroid tissue with mild atypia. A whole-body radioactive iodine I-131 scan demonstrated uptake in thyroid bed, left iliac crest, and sacrum. Right thyroid lobectomy showed 0.17 cm follicular variant of papillary thyroid carcinoma with BRAF V600E mutation. Levothyroxine was started, and I-131 radioiodine therapy (98.3 mCi) was performed; however, repeat 131 whole-body scan revealed residual focus within right midline thorax. Discussion Although papillary thyroid microcarcinoma was identified, the metastatic pattern could be consistent with a missed well-differentiated follicular thyroid carcinoma at initial surgery. Conclusion This case highlights the importance of long-term surveillance and continuity of care in thyroid cancer. Initial or recurrent thyroid cancer recurrence may present with uncommon patterns of metastases.
Primary hyperoxaluria type 1 (PH1) is a genetic disorder by defect in the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Here, we report the clinical and molecular data of four Iranian patients with PH1. Whole exome sequencing revealed six pathogenic or likely pathogenic variants in the AGXT gene in the assessed patients. A single case was found to have a likely pathogenic heterozygote variant in the SLC3A1 in addition to a likely pathogenic variant in the AGXT gene. Two novel variants, namely c.547G > T (p.D183Y) and c.647G > A (p.G216E) were detected in this gene in two distinctive patients. Notably, the latter novel variant was inherited in compound heterozygous state with another pathogenic variant in this gene, namely c.971_972del (p.V324Gfs∗7). Most notably, a single patient was found to be homozygote for two likely pathogenic variants in this gene, namely c.710C > T (p.P237L) and c.717_719del (p.F240del). The current study broadens knowledge regarding the spectrum of AGXT mutations among Iranian patients.
Background: Infertility affects many Iranian couples, with male factors accounting for a significant portion of cases. However, the causes of male infertility, including the unexplained cases, remain unclear. While conventional medicine offers various treatments, alternative approaches like herbal remedies and acupuncture have gained popularity. One such remedy is Triphala, an Ayurvedic herbal blend suggested for male infertility, particularly in obese individuals, to improve semen quality. Case presentation: This case study focuses on a 27-year-old male with obesity and infertility who underwent treatment with Triphala. After two months of Triphala usage and no weight reduction, the patient showed improvements in sperm parameters, leading to a successful pregnancy within a month. Conclusion: This case report suggests that Triphala, a traditional medicine, may have positive effects on male infertility by providing protection. The observed improvement in sperm characteristics is believed to be linked to Triphala's anti-obesity and anti-oxidative properties. However, further research with rigorous methodologies is needed to better understand the underlying mechanisms at the molecular, cellular, and clinical levels.
Background Levothyroxine (LT4) monotherapy remains the standard treatment for hypothyroidism in current clinical practice. However, a subset of patients on LT4 continue to experience fatigue and other hypothyroid symptoms despite normal thyroid-stimulating hormone (TSH) and free T4 (FT4) levels. Methods Three patients with symptomatic hypothyroidism on LT4 monotherapy were transitioned to combination therapy with liothyronine (LT3) by reducing LT4 dosage and adding LT3 5 μg daily. All had a normal TSH and low total triiodothyronine T3 levels. LT3 was administered in the morning alongside LT4, with one patient requiring an additional afternoon dose (3:00 and 5:00 p.m.) for symptom control. Laboratory values and clinical symptoms were reassessed after initiating combination thyroid hormone therapy. Results A 67-year-old woman with idiopathic bradycardia and fatigue experienced marked improvement in energy and bradycardia, accompanied by normalization of T3 levels and improved heart rate at clinic visits. A 58-year-old woman with post-ablative hypothyroidism reported improved fatigue and modest weight loss. A 40-year-old man post-thyroidectomy for papillary thyroid carcinoma noted improvement of fatigue, daytime sleepiness and serum T3 concentrations. Across all three cases, total T3 levels increased, and symptom burden decreased following LT4 + LT3 therapy. Conclusion In select hypothyroid patients with persistent symptoms and low total T3 despite normal TSH, addition of liothyronine to levothyroxine may improve both biochemical and clinical outcomes. These findings highlight the potential benefit of individualized thyroid hormone replacement strategies in optimizing thyroid hormone status.
Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan–Herndon–Dudley syndrome, is a rare genetic disorder affecting thyroid hormone transport. It is characterised by severely debilitating neurodevelopmental and endocrinological impairments, further complicated by numerous diagnostic challenges. Here, we describe the clinical journey of a male infant from birth to MCT8 deficiency diagnosis at 23 months of age and 20 months of follow-up post diagnosis. The patient presented with hypotonia, abnormal thyroid hormone levels, epilepsy and failure to gain weight. A diagnosis of MCT8 deficiency was confirmed upon identifying a pathogenic variant in the SLC16A2 gene, which encodes the MCT8 protein. The patient was initiated on 350 μg daily of tiratricol, escalated to 350 μg twice daily, and following intolerance during further escalation, the dose was maintained at 350 μg twice daily. With 11 months of treatment follow-up, the patient has shown promising signs of thyroid hormone normalization and improved weight gain. This case highlights the importance of early recognition and a well-coordinated multidisciplinary team spanning numerous specialisms to optimise outcomes for patients with MCT8 deficiency, while providing real-world data on the effects of tiratricol treatment.
Cholestasis-induced severe hypercholesteremia can result in various complications, including the development of xanthomas and concern that marked hypercholesterolemia may accelerate atherosclerosis. However, deposition of lipids and cholesterol in organs beyond the skin and tendons, to the extent that they induce organ dysfunction or organ failure, has not previously been reported. Here we present two cases of marked hypercholesterolemia resulting from hepatobiliary dysfunction and cholestasis. In one of the two individuals (patient 1) who presented to us at a later stage of disease progression than patient 2, massive cholesterol tissue deposition in the retina, myocardium and kidney resulted in profound vision loss and ultimately fatal cardiorenal failure, whereas the second individual (patient 2) was noted to have retinal cholesterol deposition with minimal vision loss but extensive, pruritic and painful, tuberoeruptive xanthomas. Both patients were placed on weekly or biweekly plasmapheresis to prevent further disease progression, which successfully lowered cholesterol from 62.2 to 6.92 mmol/L in patient 1 and 18.4 to 5.88 mmol/L in patient 2, respectively. Unfortunately, the massive tissue lipid deposition in patient 1 proved to be beyond recuperation for plasma exchange therapy. In contrast, one year of biweekly plasmapheresis in patient 2 yielded marked resolution of xanthomas and halted progression of retinal cholesterol deposition and vision loss. These cases highlight the importance of thorough, systemic examination in patients with severe hypercholesterolemia secondary to cholestatic liver disease and attention to the potential devastating impact of massive cholesterol tissue-deposition, beyond atherosclerosis, which can be ameliorated if detected early by frequent plasma exchange.
