Berardinelli-Seip syndrome
| Berardinelli-Seip syndrome | |
|---|---|
| Other names | Congenital generalized lipodystrophy |
| Script error: No such module "InfoboxImage". | |
| Specialty | Endocrinology, Genetics |
| Symptoms | Lack of adipose tissue, insulin resistance, acanthosis nigricans |
| Usual onset | Congenital |
| Duration | Lifelong |
| Causes | Genetic mutations |
| Diagnostic method | Clinical evaluation, genetic testing |
| Treatment | Symptomatic management, lifestyle modifications |
| Prognosis | Variable |
| Frequency | Rare |
Berardinelli-Seip syndrome, also known as congenital generalized lipodystrophy, is a rare genetic disorder characterized by the near-total absence of adipose tissue, leading to a variety of metabolic complications. This condition is named after the physicians who first described it, Waldemar Berardinelli and Martin Seip.
Presentation[edit | edit source]
Individuals with Berardinelli-Seip syndrome typically present with a lack of subcutaneous fat from birth, which results in a muscular appearance. The absence of adipose tissue leads to the storage of fat in other tissues, such as the liver and muscles, causing complications like hepatomegaly and insulin resistance. Common symptoms include:
Genetics[edit | edit source]
Berardinelli-Seip syndrome is primarily caused by mutations in the AGPAT2 or BSCL2 genes. These genes are involved in the normal development and function of adipose tissue. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to be affected.
Diagnosis[edit | edit source]
Diagnosis of Berardinelli-Seip syndrome is based on clinical evaluation and confirmed through genetic testing. Key diagnostic features include the absence of adipose tissue, metabolic abnormalities, and characteristic physical features.
Management[edit | edit source]
There is no cure for Berardinelli-Seip syndrome, and treatment focuses on managing symptoms and preventing complications. Management strategies include:
- Dietary modifications to control hypertriglyceridemia
- Medications to improve insulin sensitivity
- Regular monitoring of liver function and cardiovascular health
Prognosis[edit | edit source]
The prognosis for individuals with Berardinelli-Seip syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve quality of life and reduce the risk of complications.
Also see[edit | edit source]
NIH genetic and rare disease info[edit source]
Berardinelli-Seip syndrome is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
