0
selected
-
1.
Excessively low cholesterol and triglyceride levels in an apparently healthy patient.
Pandya, V, Hunsaker, JJH, La'ulu, SL, Genzen, JR, Frank, EL, Johnson, LM, Rudolf, JW
Clinical biochemistry. 2021;:78-81
Abstract
Lipid panels are a commonly performed test in clinical laboratories. Due to the high prevalence of cardiovascular diseases around the world, it is common to see serum or plasma specimens with high results for one or more components of the lipid panel. Exceedingly low results, however, are rare and may be attributed to certain genetic, infectious, or autoimmune conditions in addition to analytical interference. Here we report a serum specimen from a 58-year-old female with cholesterol and triglyceride values below the detection limit of the assay, which was investigated to identify the cause of the anomaly. Using vitamin C test strips and high-performance liquid chromatography, the presence of high levels of antioxidant vitamin C in the patient specimen was confirmed. Subsequent treatment of the sample with the enzyme ascorbate oxidase inactivated vitamin C, leading to lipid analyte values falling within the expected range upon repeat analysis. Thus, analytical interference by vitamin C should be considered when suspiciously low lipid panel results are encountered.
-
2.
Case Report: A Clinical and Genetic Analysis of Childhood Growth Hormone Deficiency With Familial Hypercholesterolemia.
Yang, S, Ke, X, Liang, H, Li, R, Zhu, H
Frontiers in endocrinology. 2021;:691490
Abstract
BACKGROUND Growth hormone deficiency (GHD) is a developmental disorder in children characterized by low growth hormone (GH), short stature and unfavorable lipid profiles. Familial hypercholesteremia (FH) is an inborn disorder of low-density lipoprotein cholesterol (LDL-C) metabolism which results in premature cardiovascular events. The co-occurrence of GHD and FH, which may aggravate the hypercholesteremic condition in the affected individuals, had rarely been discussed in previous publication. METHODS This work reports two cases of GHD with FH, and explores the lipid profiles of GHD children and their therapeutic response to recombinant human growth hormone (rhGH). The diagnosis of GHD is based on low peak GH level (<7 ng/mL) in GH provocation test. FH is diagnosed by high LDL-C level (≥ 4 mmol/L) and confirmed genetic mutations in the LDL-C metabolic pathway. We also searched all previously published metabolic studies on GHD children as of December 31, 2020. Information on their LDL-C, duration and dose of rhGH treatment were retrieved and summarized. RESULTS The first case was a 5.3 year-old boy. His height was 103.6 cm (SDS = -2.29) and his peak GH in provocative test was 6.37 ng/mL. Additionally, his LDL-C was 4.80 mmol/L and he harbored a heterozygous mutation for the apolipoprotein B (APOB) gene (c.10579 C > T). The second case was a 9-year-old girl at the height of 117.3 cm (SDS = -2.91). Her GH peaked at 4.99 ng/mL in insulin-induced hypoglycemic test and 2.80 ng/mL in L-dopa test. Her LDL-C was 6.16 mmol/L, and she carried a mutated copy of the low-density lipoprotein receptor (LDLR) gene (c.809 G > A). Literature review indicated that GHD children suffered from higher baseline LDL-C, but it was significantly reduced after rhGH treatment. CONCLUSIONS FH should be considered if a GHD child has remarkably elevated LDL-C that cannot be attributed to low GH level alone. Genetic mutations in the LDL-C metabolic pathway prevent the body from effectively metabolizing lipids, thereby resulting in early-onset hypercholesteremia and probably playing a negative role in children's growth.
-
3.
[Temporal bone cholesterol granuloma penetrating into the middle cranial fossa].
Jakab-Péter, K, Tóth, A, Barabás, MA, Gerlinger, I, Lujber, L
Orvosi hetilap. 2019;(52):2067-2072
Abstract
The authors present a case report of a patient who was treated conservatively for a non-specific headache for more than a decade, while an arachnoidal cyst in the middle cranial fossa, over the temporal bone tegmen was diagnosed, but ruled out as the cause of the headache. The patient was referred to our ENT department with left, purulent ear discharge. Besides a chronic purulent otitis media, a cholesterol granuloma occupying the antrum, eroding the tegmen of the pyramid bone and penetrating into the middle cranial fossa was diagnosed. Case presentation of a patient with cholesterol granuloma, surgical options, differential diagnostic problems, and a literature review are presented. Tympanoplasty with cortical mastoidectomy was carried out to treat the chronic purulent otitis media, and the cholesterol granuloma was removed during transmastoid craniotomy. The iatrogenic temporal meningo-encephalic tissue herniation was repaired and the bone defect of the tegmen was reconstructed with septal cartilage. The patient's headache diminished immediately after the surgery. The chronic ear discharge stopped, the cholesterol granuloma was excised completely and the cerebral herniation was repaired successfully. Neither CSF leak, nor further herniation or meningitis were noticed. Two years after the operation the patient is asymptomatic. A large cholesterol granuloma, eroding into the middle cranial fossa can cause serious complications, and needs a high level of attention besides individualized surgical treatment based on the surgeon's abilities and skills. Orv Hetil. 2019; 160(52): 2067-2072.
-
4.
Cholesterol granuloma in an antrochoanal polyp. A rare lesion in children.
Val-Bernal, JF, Martino, M, Castaneda-Curto, N, García-Triana, M, Teigeiro-Núñez, V
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia. 2018;(4):262-266
Abstract
Antrochoanal polyps (ACPs) are an infrequent clinical entity. Cholesterol granulomas (CGs) are commonly associated with chronic middle ear disease but are rare in the paranasal sinuses. We describe a case of a 10-year-old girl with a concomitant CG in an ACP which was surgically excised by nasosinusal endoscopic surgery. To our knowledge, there are only five previously published cases of CGs in ACPs and of these, only two were pediatric cases. We describe a third case in the youngest patient yet reported. Increased intrasinus pressure may affect venous and lymphatic drainage, leading to hemorrhages with hemolysis and deposition of cholesterol crystals and their esters initiating the formation of granulomas in the polyp. In addition, the insufficient lymphatic drainage prevents the complete elimination of lipids, contributing to the formation of cholesterol granulomas. The treatment and the outcome of an ACP associated with a CG are the same as for usual ACPs.
-
5.
Multiple subcutaneous cholesterol granulomas arising in eruptive vellus hair cysts: A case report and published work review of 11 cases.
Utsunomiya, N, Oyama, N, Chino, T, Tokuriki, A, Sakai, Y, Imamura, Y, Hasegawa, M
The Journal of dermatology. 2017;(4):481-482
-
6.
Cholesterol granulomas presenting as sellar masses: a similar, but clinically distinct entity from craniopharyngioma and Rathke's cleft cyst.
Hernández-Estrada, RA, Kshettry, VR, Vogel, AN, Curtis, MT, Evans, JJ
Pituitary. 2017;(3):325-332
Abstract
PURPOSE Cholesterol granulomas in the sella are rare and can mimic the appearance of craniopharyngioma or Rathke's cleft cysts. Information regarding the clinical presentation, imaging characteristics, and clinical course of sellar cholesterol granulomas can help clinicians to differentiate these lesions from other sellar cystic lesions. METHODS We present three cases of sellar cholesterol granulomas. A literature review was performed for all cases of sellar cholesterol granulomas with individual patient data reported. RESULTS We identified 24 previously reported cases in addition to our three cases. Mean age was 36.6 years (range 5-68). There were 16 (59%) females. The most common (74%) presenting symptom was endocrinological deficits, typically either isolated diabetes insipidus (DI) or panhypopituitarism. Location was intrasellar in 3 (11%), suprasellar in 6 (22%), and intrasellar/suprasellar in 18 (67%) patients. Lesions were most commonly (83%) T1 hyperintense. Gross total resection was achieved in 16 (64%) and subtotal resection in 9 (36%) patients. Of the seventeen (63%) patients presenting with varying degrees of bitemporal hemianopsia, all had improvement in vision postoperatively. It is worth noting that no cases of preoperative hypopituitarism or DI improved postoperatively. Even though gross total resection was only achieved in 64%, there was only one recurrence reported. CONCLUSION Sellar cholesterol granulomas are characterized by T1 hyperintensity, younger age, and more frequent and severe endocrinological deficits on presentation. Our review demonstrates high rates of improvement of visual deficits, but poor rates of endocrine function recovery. Recurrence is uncommon even in cases of subtotal resection.
-
7.
Cholesterol granuloma: a case series & review of literature.
Shrirao, N, Mukherjee, B, Krishnakumar, S, Biswas, J
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 2016;(1):185-8
Abstract
BACKGROUND Cholesterol granuloma (CG) is a foreign body reaction to crystallized cholesterol. Orbitofrontal CG is a rare entity with few cases reported in literature. It is usually seen in young to middle-aged males with a history of trauma. Computed tomography features include hypodense lesion-causing bone erosion. CG has typical histopathological features with cholesterol clefts, multinucleated giant cells, histiocytes, foamy macrophages, and altered blood pigments. Management is by total excision of the lesion with curettage of the underlying bone to prevent recurrence. MATERIAL & METHOD We present an interventional case series of five patients of orbitofrontal CG, two of them females. RESULT None of the patients gave a history of trauma. Management was by excision of the lesion and curettage confirmed with a 30° rigid endoscope. CONCLUSION Cholesterol granulomas can present as superior orbital mass lesions in the absence of trauma.
-
8.
Cholesterol granuloma of the orbit.
Yan, J, Cai, Y, Liu, R, Lin, J, Li, J
The Journal of craniofacial surgery. 2015;(2):e124-6
Abstract
PURPOSE The aim of this study was to present image findings, clinical and histopathologic features, and surgical management of orbital cholesterol granuloma (CG), a rare orbital entity. METHODS Findings from 2 patients with orbitofrontal CG are presented along with a review of the literature on CG of the orbit. RESULTS Both patients were 40-year-old men. The common symptoms of this condition in the present cases were proptosis and inferomedial displacement of the globe. Computed tomography scan in patient 1 revealed the presence of a cystic lesion without bone erosion in the superolateral orbital roof. Magnetic resonance imaging in patient 2 revealed a non-contrast-enhancing lesion with moderate signal intensity on T1-weighted images and high signal intensity on T2-weighted images. For both cases, anterior orbitotomy through subbrow incision by drainage and curettage resulted in a curative outcome. No lesion recurrence was observed by 5 years after surgery in 1 case and 3 years in the other. Histopathologic evaluation revealed numerous inflammatory cells, blood degradation products, and cholesterol clefts. The absence of epithelial elements led to the diagnosis of CG. CONCLUSIONS Orbital CG is a rare expansive cystic condition and nearly always occurs in the lateral region of the superior orbital ridge within the frontal diploic space. This condition shows a marked preponderance in middle-aged males. The findings that computed tomography scan did not reveal bone erosion in patient 1, and magnetic resonance imaging examination showed moderate signal intensity, rather than high signal intensity, on T1-weighted images in patient 2 indicated that these represented unusual presentations. Surgical excision has a high success rate with a low incidence of recurrence.
-
9.
Paranasal sinus cholesterol granuloma: systematic review of diagnostic and management aspects.
Durgam, A, Batra, PS
International forum of allergy & rhinology. 2013;(3):242-7
Abstract
BACKGROUND Cholesterol granuloma (CG) is an expansile, cystic lesion most commonly observed in the temporal bone. CG is rarely encountered in the paranasal sinuses. Given its paucity in this region, the diagnostic and management aspects remain to be elucidated. METHODS Systematic review of the literature yielded 66 cases reported as individual data in 37 articles; an additional 69 cases were reported as aggregate data in 5 case series. RESULTS The mean age of the 135 patients was 43.8 years, with a male:female ratio of 5.6:1. The most common presenting symptoms were orbital (66%), followed by headaches (19.3%). The most common location for CG was the frontal sinus (60%), followed by maxillary (34.1%) and ethmoid (3.7%) sinuses. Computed tomography (CT) imaging was used in 84 patients (63.3%), with bone erosion being noted in 80% of cases. Magnetic resonance imaging (MRI) was reported in only 9 cases (6.7%); high signal on T1- and T2-weighted images was evident in 77.8% and 66.7%, of cases respectively. Surgical data was available on 65 cases; drainage was achieved by open and endoscopic techniques in 52 (80%) and 13 (20%) cases, respectively. Primary symptom improvement and CG cavity patency was achieved in 92% of cases at a mean follow-up of 34.5 months. CONCLUSION Paranasal sinus CG is most commonly observed in middle-aged males, arises in the frontal sinus, and typically presents with orbital symptoms. Both open and endoscopic techniques can be used with high success rate. The present study represents the first attempt in the literature to construct a clinical profile of this rare entity.
-
10.
Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia.
Alves, C, Braid, Z
Pediatric endocrinology, diabetes, and metabolism. 2011;(3):162-5
Abstract
A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of cardiovascular disease. Skin examination showed: intertriginous xanthomas of feet and hands, tuberous xanthomas in knees and elbows, tendinous xanthomas in Achilles tendon and xanthomas in the gluteal region, associated with corneal arc bilaterally. Laboratory work-up excluded secondary causes of hypercholesterolemia and a diagnosis of homozygous familial hypercholesterolemia was made. Echocardiogram showed bicuspid aortic valve and mild aortic insufficiency. Doppler ultrasound of carotid arteries and computerized tomography of the thorax for assessment of calcium scoring were normal. The patient's serum lipids were reduced by approximately 40% after a diet, atorvastatin and ezetimibe. Homozygous familial hypercholesterolemia is an important risk factor for atherosclerosis and premature coronary artery disease in children and young adults. Early diagnosis and treatment with screening of first-degree relatives is essential to minimize the progression of cardiovascular disease in these patients.