Diffuse xanthomas in a patient with primary biliary cholangitis and lipoprotein X

Harris, Jasmine; Cao, Severine; Hile, Grace A.; Eshaq, Milad

doi:10.1016/j.jdcr.2020.10.029

Cited by 8 publications

(12 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…5 It is worth also mentioning that tendon xanthomas are not a pathognomonic feature of CTX and can occur in other syndromes, for example, familial hypercholesterolemia, sitosterolemia, sometimes in primary biliary cholangitis. 199,200,201 Our analysis found that Achilles tendon xanthomas were found in 67.74%…”

Section: Tendon Xanthomasmentioning

confidence: 82%

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

et al. 2021

View full text Add to dashboard Cite

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis may be significantly delayed resulting in permanent neurological impairment. A retrospective review of the clinical characteristics and diagnostic findings in case series of six Polish patients with CTX.Additional retrospective review of symptoms and pathogenic variants of 568 CTX available cases and case series from the past 20 years. To the best of our knowledge, this is the widest review of CTX cases reported in years 2000-2021. We report the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations. During the review of available 568 cases, we found significant differences in the clinical phenotypes and the localization of variants within the gene between Asian and non-Asian populations. These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed.

show abstract

Section: Tendon Xanthomasmentioning

confidence: 82%

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

et al. 2021

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

“… 3 For xanthelasma, destructive methods include surgical excision, cryotherapy, trichloroacetic acid and laser, though the effects are temporary with a risk of scarring. 1 , 4 For diffuse plane xanthomas, there are rare case reports of treatments with erbium:YAG laser, 7 topical simvastatin 8 and systemic probucol. 9 We describe a rare case of lipoproteinemia X with complete resolution of xanthomas and normalization of the lipid panel after 18 weeks of conventional apheresis, even without a specific LDL filter.…”

Section: Discussionmentioning

confidence: 99%

“…5 A few case reports showed temporary resolution of xanthomas secondary to lipoprotein X with LDL plasmapheresis, but the ultimate treatment remains addressing the underlying condition such as liver transplantation for persisting liver diseases. 3,4,6 Combination with ursodeoxycholic acid and cholestyramine may also help lower lipoprotein X. 3 For xanthelasma, destructive methods include surgical excision, cryotherapy, trichloroacetic acid and laser, though the effects are temporary with a risk of scarring.…”

Section: Discussionmentioning

confidence: 99%

“…3 Therefore, lipid profiles show important elevations of total cholesterol and triglycerides, and low high-density lipoprotein levels. 4 Because lipoprotein X lacks apoB structure, its accumulation does not respond well to conventional treatments such as statins, fibrates and PCSK9 inhibitors. 5 A few case reports showed temporary resolution of xanthomas secondary to lipoprotein X with LDL plasmapheresis, but the ultimate treatment remains addressing the underlying condition such as liver transplantation for persisting liver diseases.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Verrucous plane xanthomas secondary to lipoprotein X dyslipidemia in the context of cholestatic fulminant hepatitis: A case report

Dang

Lim

Watters

et al. 2021

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

Cutaneous xanthomas are the result of dermal deposition of lipid, mostly caused by disorders of lipid metabolism. Less commonly, they occur in the setting of cholestatic liver disease, leading to accumulation of lipoprotein X, a rare form of dyslipidemia that does not respond well to conventional treatments. We describe an atypical presentation of sudden diffuse xanthomas secondary to lipoprotein X dyslipidemia in the context of cholestatic fulminant hepatitis caused by trimethoprim-sulfamethoxazole hypersensitivity. Histopathology was also atypical and showed an unusual verrucous appearance consisting of overlying epidermal hyperplasia with hyperkeratosis. Our patient had significant improvement, after normalization of her lipid panel under cholestyramine and 13 sessions of apheresis, with topical corticosteroids offering some relief. This rare case shows the importance of recognizing atypical presentations of xanthomas, particularly when they do not respond to conventional dyslipidemia treatments.

show abstract

Systemic Complications of Primary Biliary Cholangitis

Zapata,

Pagan-Torres,

Mayo

2024

Clinics in Liver Disease

View full text Add to dashboard Cite

Diffuse xanthomas in a patient with primary biliary cholangitis and lipoprotein X

Cited by 8 publications

References 8 publications

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

Verrucous plane xanthomas secondary to lipoprotein X dyslipidemia in the context of cholestatic fulminant hepatitis: A case report

Systemic Complications of Primary Biliary Cholangitis

Contact Info

Product

Resources

About