Disclosure: D.R. Barros: None. B.G. Ballios: None. Y. Patoida: None. S. Singer: None. C.F. Rosen: None. M.A. Seidman: None. R.A. Hegele: None. G.F. Lewis: None.Background: Cholestasis-induced severe hypercholesterolemia can result in various complications, including xanthomas, although atherosclerosis is not a consistent feature. However, deposition of lipids in organs beyond the skin and tendons secondary to hepatobiliary dysfunction, to the point of eliciting organ dysfunction or failure, has not previously been reported. Case Presentations: Here we present two cases of marked hypercholesterolemia resulting from hepatobiliary disease. Patient 1 presented at a later stage of disease progression, with markedly elevated plasma cholesterol at 62.2 mmol/L (N<5.2 mmol/L) and triglycerides at 3.83 mmol/L (N<1.7 mmol/L). Massive cholesterol deposition in his retinas led to profound vision loss, while myocardium and kidney lipid infiltration ultimately resulted in fatal cardiorenal failure. Patient 2 presented with a lesser degree of hypercholesterolemia, with plasma cholesterol at 18.4 mmol/L. He was noted to have retinal cholesterol deposition without vision loss, along with extensive pruritic and painful tuberoeruptive xanthomas. Management and Outcome: Both patients were treated with weekly or biweekly plasmapheresis to prevent further disease progression, which successfully lowered plasma cholesterol to 6.92 and 5.88 mmol/L in patients 1 and 2, respectively. The multi-organ lipid deposition of patient 1 proved to be irremediable despite plasma exchange therapy. In contrast, six months of biweekly plasmapheresis in patient 2 yielded marked resolution of xanthomas and halted progression of retinal disease and vision loss. These cases reveal previously unappreciated non-atherosclerotic clinical consequences of severe hypercholesterolemia secondary to cholestatic liver disease, which can be ameliorated if detected early and treated with serial plasma exchange.Presentation: Saturday, July 12, 2025

Familial Hypercholesterolemia (FH) is a rare autosomal dominant genetic disorder characterized by raised levels of Low-Density Lipoprotein Cholesterol (LDL-C). Homozygous type of familial hypercholesterolemia is very rare entity with incidence of one in a million. They are very few case reports of this entity reported in India. We present a 7-year-old male child presenting to the department of cardiology with clinical features of homozygous type of FH such as corneal arcus ,multiple xanthomas and laboratory features suggestive of hypercholesterolemia. His father had similar features of hypercholesterolemia. The patient was started on statins. The patient was lost to follow up.

Pharyngeal xanthoma detected during EGD screening

Background/AimsFundic gland polyps (FGPs), hyperplastic polyps (HPs), and xanthomas (XTs) are common benign gastric lesions that can be diagnosed by endoscopic appearance alone in most cases. The aim of this study was to evaluate associations between gastric cancer and these benign lesions.MethodsTwo expert endoscopists reviewed a series of gastroscopy images. FGPs, HPs, and XTs were diagnosed by endoscopic appearance, whereas all gastric cancers were confirmed pathologically.ResultsOf the 1,227 patients reviewed, 114 (9.3%) had a concurrent or past history of gastric cancer. The overall prevalences of FGPs, HPs and XTs were 9.4%, 6.3% and 14.2%, respectively. HPs and XTs coexisted in 1.6% of patients, whereas other combinations were rarer. XTs were observed in 39.3% and 11.5% of patients with and without gastric cancer, respectively (p<0.001). In contrast, no gastric cancer patients had FGPs, whereas 10.4% of patients without cancer had FGPs (p<0.001). The prevalence of HPs was similar between the two groups (8.8% and 6.0% of patients with and without cancer, respectively, p=0.29). Multivariate and Mantel-Haenszel analyses demonstrated that XTs were positively associated and FGPs were negatively associated with gastric cancer.ConclusionsXTs and FGPs might be useful as endoscopic risk indicators for monitoring gastric cancer.

Objective To investigate the clinical efficacy of orbicularis oculi muscle pedicled skin flaps transplantation combined with blepharochalasis correction for the treatment of skin defect after upper eyelid xanthoma resection. Methods Sixty eyes of 30 cases with palpebral xanthoma (diameter>10 mm)and blepharochalasis of the upper eyelid were collected. The aneuros skin of upper eyelid was made an orbicularis oculi muscle pedicled rotary flap. And the flap was used to repair the wound of palpebral xanthoma resection. Finally, all patients underwent blepharochalasis and double eyelid plasty, the follow-up time was 12-24 months. Results All flaps were survived with the normal appearance and the incisions were primary healing. At the last follow-up, all patients were satisfied with surgery.No palpebral xanthoma recurred. Conclusion The orbicularis oculi muscle pedicled rotary flap made with aneuros skin of upper eyelid is a reliable option for the treatment of palpebral xanthoma. This method could obtain satisfied results both in treatment and cosmetic. Key words: Xanthoma, palpebral, upper; Transplantation, skin flap, rotary, pedicled; Blepharochalasis

Objective To evaluate the value of ultrasonography in diagnosing tendon xanthoma. Methods The ultrasonographic images of 17 patients with tendon xanthomas confirmed by surgery and pathology were retrospectively analyzed. The ultrasonographic features were summarized. Results The ultrasonographic images showed the location, number, size, shape, boundary, internal echo, involvement and blood supply of tendon xanthomas clearly. Tendon xanthomas showed hypoechoic masses within the tendons, mostly located on the extensor aspect of the hands, feet or bilateral Achilles tendons, symmetric growth, irregular-shaped and inhomogeneous, with loss of the normal fibrillar pattern in longitudinal plane. The abundant blood flow inside the tendon can be detected by color Doppler examination. Conclusions High frequency sonography is the preferred imaging method for diagnosis of tendon xanthomas. Key words: Ultrasonography; Tendon xanthoma

Abstract Primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) are chronic, immune-mediated diseases which may be associated with the presence of lipoprotein X (LpX). This is an abnormal lipoprotein resulting in marked elevation of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) concentration. LpX is rich in free cholesterol (FC) and phospholipids (PL) and low in esterified cholesterol (CE). We describe two cases with florid lipid stigmata and presence of LpX. A patient with PBC presented with itching and palmar xanthomata. TC = 55.5 mmol/L, direct LDL-C = 14.9 mmol/L, high-density lipoprotein cholesterol (HDL-C) = 0.5 mmol and triglycerides (TG) = 11.3 mmol/L. Lipoprotein electrophoresis (LPE) showed the presence of LpX. An apolipoprotein E (Apo E) phenotype and genotype reported E2E3 and E3E3 isoforms, respectively. A patient with PSC presented with itchy eruptive xanthomata. TC = 22.8 mmol/L, calculated LDL-C = 21.7 mmol/L, HDL-C = 0.2 mmol/L and TG = 1.6 mmol/L...

Verruciform xanthoma is an uncommon verruciform or cauliflower-like benign hyperplastic disease that occurs most frequently in the oral cavity and sometimes outside it. The lesions of verruciform xanthomacan be solitary or multiple, and grow slowly with no subjective symptoms. Histopathological manifestations are important evidence for final diagnosis, and are characterized by the presence of a large number of foam cells in the dermal papilla. The pathogenesis of verruciform xanthoma is still unclear, and is mainly associated with stimulation, trauma, inflammation, lymphedema, heredity, and so on. Verruciform xanthoma can occur alone or together with other diseases, such as discoid lupus erythematosus, lichen planus, lichen sclerosus et atrophicus, arteriovenous hemangioma, lymphedema, graft-versus-host disease, congenital hemidysplasia with ichthyosiform erythroderma and limb defects, dystrophic epidermolysis bullosa, capillary leak syndrome, etc. Key words: Skin; Xanthomatosis; Infection; Heredity; Immunity; Pathology

Xanthomas and Macrothrombocytopenia: Sitosterolaemia is the Answer

A 35-year-old male farmer with a 1-month history of an intermittently tender lower lip plaque was diagnosed with verruciform xanthoma. He underwent therapy with fractional CO 2 laser which led to clinical resolution of the plaque followed by recurrence. Verruciform xanthoma is a rare benign entity of undetermined pathogenesis. Surgical excision is considered curative. This patient’s condition may have been related to solar damage. J Med Cases. 2015;6(6):271-273 doi: http://dx.doi.org/10.14740/jmc2145w

Kemik ksantomasi genellikle govde, ekstremite, cilt alti dokusu, tendon ve kemik iliginde lipid birikimi ile hiperlipidemi ile iliskili olan bir durumdur. Otuz sekiz yasinda erkek hasta sag tarafta gogus agrisi ile klinigimize basvurdu. Akciger grafisinde sag dokuzuncu kaburgada bir genisleme goruldu. Toraks bilgisayarli tomografide dokuzuncu kaburganin arka arkinda litik bir lezyon tespit edildi. Serum lipid profili normal sinirlarda idi. Teknesyum-99m metildifosfanat sintigrafide supheli bir malign neoplazm goruldu. Nispeten sert 3.5x1.5 cm boyutlarindaki kitle cevre dokular ile birlikte cikarildi. Ameliyat sonrasi histopatolojik inceleme sonucu kemigi tahrip eden ksantoma hucreleri olarak bildirildi. Kesin tani kaburganin ksantomasi olarak konuldu. Ameliyat sonrasi donem sikintisiz ve tam iyilesme ile neticelendi. Ek bir tedavi uygulanmadi. Hastamiz 25. ayinda saglikli olarak takip edilmektedir. Anah tar soz cuk ler: Kaburga ksantomasi; hiperlipidemi; ksantoma. Xanthoma of the bone is a condition which is associated with hyperlipidemia with lipid deposits on the trunk, extremities, subcutaneous tissues, tendons and bone marrow. A 38-year-old male patient was admitted to our clinic with chest pain on the right side. Chest X-ray revealed an expansion on the right ninth rib. Thoracic computed tomography showed a lytic lesion involving the posterior arch of the right ninth rib. Serum lipid profile was within normal range. Technetium-99m methylene diphosphonate scintigraphy indicated a suspicious malignant neoplasm. A relatively hard mass in 3.5x1.5 cm size was excised together with the adjacent tissues. Postoperative histopathologic examination reported as an infiltration of xanthoma cells destroying the bone. A xanthoma of the rib was definite diagnosis. Postoperative period was uneventful with full recovery. No additional treatment was applied. The patient was healthy at 25 months of follow-up.

The presence of eruptive xanthomas is associated with lipid disorders, particularly hypertriglyceridaemia. Intensified hypertriglyceridaemia >10 mmol/l (880 mg%) is a major risk factor for acute pancreatitis. The presented case concerns a 40-year-old man with skin lesions in the form of eruptive xanthomas, accompanied by hypertriglyceridaemiae, complicated by acute pancreatitis, and diagnosed with type 2 diabetes with glycated haemoglobin 9.7 g/dl. Seeding of skin lesions appeared 2–3 months before hospitalization and was observed in the direction of molluscum contagiosum.

Bu olguda, 3 yasli, Holstayn irki bir inekte saptanan vaginal ksantom makroskobik, mikroskobik ve immunohistokimyasal olarak tanimlandi. Vaginadan pembe renkli, sert kivamli, 328 gr agirligindaki bir kitle cerrahi olarak uzaklastirildi. Histopatolojik olarak, kitle stromayla sarili lobuler alanlardan olusuyordu ve cok sayida kopuklu makrofajlar, yogun lipid materyali, az sayida dev hucre ile kolesterol yariklari iceriyordu. Immunohistokimyasal olarak vimentin, prolifere hucre nukleer antijen (PCNA) ve CD 68 ile pozitif; duz kas aktin (SMA), glial fibriler asidik protein (GFAP) ve S100 protein ile negatif reaksiyon saptandi. Yapilan taramalara gore bu, bir inekte saptanan ilk vaginal ksantom olgusudur

A 31-year-old female patient presented with plaques on the extensor aspect of all of the joints in the body for nearly 20 years,which had gradually enlarged over time.Skin examination showed irregularly sized,orange-colored plaques symmetrically distributed on the extensor aspect of bilateral elbows,knees,and ankles.The joints of her hands and feet were enlarged.Histopathological examination of skin lesions revealed a perivascular infiltration of a small number of lymphocytes and histiocytes in superficial dermis,as well as a massive infiltration of foam cells in superficial and mid dermis with multinucleated giant cells occasionally seen.As laboratory examination showed,the serum levels of total cholesterol and low-density lipoprotein were 13.93 mmol/L and 9.05 mmol/L respectively.Dual source CT showed different degrees of stenosis of multiple coronary arteries.Radiography demonstrated localized cortical bone erosions in the left metatarsophalangeal joints.Family survey revealed that the patient's parents,uncles and elder brother all suffered from dyslipidemia and coronary artery diseases,such as coronary stenosis and plaque formation.However,none of her relatives suffered from xanthomatosis.The patient was diagnosed as familial hypercholesterolemia with nodular xanthoma.

Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial chylomicronemia (Type 1 Hyperlipidemia). The infant was started on a low fat diet and advised a regular follow-up.

男,38岁,双侧跟腱部肿块2年,活动受限1年余入院.体格检查:跛行,双侧跟腱部可扪及肿块,约3 cm×8 cm×1cm,边界清,无红肿、压痛,可随跟腱屈伸而活动,患肢末端血运及活动良好,痛觉、触觉正常,跟膝胫试验阳性,Babinski征及Hoffmann征阳性.双上肢活动好,肌力、肌张力正常.X线片及MRI示左侧跟腱及腓骨长短肌肿块,右侧跟腱及腓骨长短肌腱、胫骨前后肌腱肿块,考虑黄色素瘤。

Intertriginous xanthomas in a 2-year-old girl with type II hyperlipidemia

The 25 years experience in diagnosis and research on rare neurological diseases in Siena is reported. After a brief introduction of the concept of rare neurological diseases and their frequency, the diagnostic strategy and the casuistic is described. The Cerebrotendinous xanthomatosis is reported as an example.

Our aim was to characterize HDL subspecies and fat-soluble vitamin levels in a kindred with familial apolipoprotein A-I (apoA-I) deficiency. Sequencing of the APOA1 gene revealed a nonsense mutation at codon -2, Q[-2]X, with two documented homozygotes, eight heterozygotes, and two normal subjects in the kindred. Homozygotes presented markedly decreased HDL cholesterol levels, undetectable plasma apoA-1, tuboeruptive and planar xanthomas, mild corneal arcus and opacification, and severe premature coronary artery disease. In both homozygotes, analysis of HDL particles by two-dimensional gel electrophoresis revealed undetectable apoA-I, decreased amounts of small alpha-3 migrating apoA-II particles, and only modestly decreased normal amounts of slow alpha migrating apoA-IV- and apoE-containing HDL, while in the eight heterozygotes, there was loss of large alpha-1 HDL particles. There were no significant decreases in plasma fat-soluble vitamin levels noted in either homozygotes or heterozygotes compared with normal control subjects. Our data indicate that isolated apoA-I deficiency results in marked HDL deficiency with very low apoA-II alpha-3 HDL particles, modest reductions in the separate and distinct plasma apoA-IV and apoE HDL particles, tuboeruptive xanthomas, premature coronary atherosclerosis, and no evidence of fat malabsorption.

Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis