lipodystrophylipoatrophyHAARTBerardinellileptin

Lipodystrophy

ליפודיסטרופיה

📖 מבוא

Lipodystrophy — loss of subcutaneous adipose tissue (partial or generalized). Acquired vs congenital. Metabolic complications: insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis. HIV-associated (HAART). Bologna Ch 89-90.

📝 אנמנזה

אזורי "שקיעה" של שומן תת-עורי? גפיים, פנים (lipoatrophy)? שומן מוגבר — abdomen, dorso-cervical (buffalo hump)? HIV — HAART regimen? (stavudine, zidovudine). תרופות — insulin injections, corticosteroids (local)? סוכרת, טריגליצרידים גבוהים?

🔍 בדיקה

Localized lipodystrophy: אזורי atrophy — depressions, loss of subcutaneous fat. ⚠️ Insulin lipodystrophy: lipoatrophy at injection sites. Panniculitis-induced. Generalized acquired (Lawrence syndrome): near-total fat loss, muscular appearance, acanthosis nigricans, hepatomegaly. HIV-HAART: facial lipoatrophy (sunken cheeks) + central lipohypertrophy (buffalo hump, truncal obesity).

📋 סיכום

ממצאים מתאימים לליפודיסטרופיה. בירור מטבולי.

💊 המלצות

📋 מידע כללי

-DDx: Morphea/scleroderma (en coup de sabre — facial atrophy), Parry-Romberg syndrome (progressive facial hemiatrophy), Panniculitis (inflammation preceding fat loss), Cushing syndrome (central obesity, moon facies — but peripheral fat normal/increased, not lost).

🔬 בירור

-בירור מטבולי (חיוני — סיבוכים מטבוליים שכיחים): Fasting glucose + HbA1c (insulin resistance/DM), Fasting lipids (TG markedly elevated → pancreatitis risk), Liver function + ultrasound (hepatic steatosis/NASH), Leptin level (severely low in generalized forms). Genetics: AGPAT2, BSCL2, LMNA, PPARG panels. Body composition: DEXA scan, MRI for fat distribution.

💊 טיפול

-סיווג: Generalized — Congenital (Berardinelli-Seip, AGPAT2/BSCL2 mutations, AR) or Acquired (Lawrence, autoimmune, panniculitis). Partial — Congenital (Dunnigan, LMNA/PPARG mutations, AD, limbs+trunk loss, face spared) or Acquired (Barraquer-Simons — cephalocaudal fat loss, face→arms→trunk, C3 nephritic factor). HIV-associated (NRTIs, PIs). Localized — injection sites (insulin, steroids), pressure, panniculitis.

-טיפול: Metreleptin (recombinant leptin) — FDA-approved for generalized lipodystrophy (metabolic improvement: TG↓, HbA1c↓, hepatic steatosis↓). Metabolic management: Metformin, statins, fibrates, insulin. HIV lipodystrophy: switch from thymidine analogues (stavudine→tenofovir), tesamorelin (GH-releasing factor — reduces visceral fat). Cosmetic: facial filler (poly-L-lactic acid/Sculptra) for facial lipoatrophy — FDA-approved for HIV facial lipoatrophy.

📅 מעקב

-הפניה: אנדוקרינולוגיה, גנטיקה. ביקורת בעוד חודש עם בירור מטבולי.

⚗ מרשם

-PO METFORMIN 500-1000 mg x2/d (insulin resistance) - 1OP

-SC METRELEPTIN (Myalept) per endocrinology (generalized LD) - specialist

-Injectable POLY-L-LACTIC ACID (Sculptra) for facial lipoatrophy - specialist