Scopus
YÖKSİS DOI Eşleşti
SJR Q1
Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them
Journal of Clinical Lipidology · Mayıs 2024
YÖKSİS Kayıtları
Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them
Journal of Clinical Lipidology · 2024 SCI-Expanded
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nation-wide survey (A-HIT1 Registry)
2019 ISSN: 1933-2874 SCI-Expanded
Prof. Dr. BÜLENT BEHLÜL ALTUNKESER →
Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry)
2020 ISSN: 1933-2874 SCI-Expanded
Prof. Dr. BÜLENT BEHLÜL ALTUNKESER →
Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them
2024 ISSN: 1933-2874 SCI-Expanded Q2
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
Makale Bilgileri
ISSN19332874
Yayın TarihiMayıs 2024
Cilt / Sayfa18 · e452-e464
Scopus ID2-s2.0-85187344096
Özet
BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. PURPOSE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed. RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7–32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. CONCLUSION: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.
Yazarlar (2)
1
Banu Kadıoğlu Yılmaz
2
Halil Çelik
Anahtar Kelimeler
Bilateral juvenile cataracts
Cerebrotendinous xanthomatosis
Chenodeoxycholic acid
Hand tremor
Malar rash
Kurumlar
Selçuk Tip Fakültesi
Konya Turkey
University of Health Sciences
Istanbul Turkey
Scimago Dergi (ISSN Eşleşmesi)
Journal of Clinical Lipidology
Q1
SJR Skoru1,719
H-Index85
YayıncıElsevier Ltd
ÜlkeUnited Kingdom
Cardiology and Cardiovascular Medicine (Q1)
Endocrinology, Diabetes and Metabolism (Q1)
Internal Medicine (Q1)
Nutrition and Dietetics (Q1)
Metrikler
3
Atıf
2
Yazar
5
Anahtar Kelime