📂 Diseases
familial hemophagocytic lymphohistiocytosis 5 — Definition
Ailesel hemofagositik lenfohistiyositoz tip 5 / familial hemophagocytic lymphohistiocytosis 5
Family hemofagocytic lymphohistiocytosis type 5 is a genetic disease, characterized by excessive activation of immune system. In this disease, it produces an excessive amount of immune cells (lenfosit and hythiocytes) to fight body infections, and these cells impose tissue and organs by multiplying uncontrolled. STXBP2 is caused by mutations in the gene, and often occurs with symptoms such as fever, liver and dalak growth, reduction in blood cells. If it is not treated, it can quickly create vital danger and may require intense treatments such as bone marrow transplant.
Disease Definition
🔬 Disease Definition
Ailesel hemofagositik lenfohistiyositoz tip 5 (FHL5), STXBP2 genindeki mutasyonlardan kaynaklanan, sitotoksik granül ekzositozunda defekt ile karakterize otozomal resesif bir immün yetmezlik hastalığıdır. Kontrolsüz immün aktivasyon ve hemofagositoz ile seyreder.
🧬 Causes & Risk Factors
STXBP2 genindeki (MUNC18-2 proteinini kodlayan) bialelik mutasyonlar. Bu mutasyonlar, NK ve sitotoksik T hücrelerinde granül ekzositozunu bozarak perforin ve granzim salınımını engeller.
🩺 Symptoms & Signs
Ateş, splenomegali, hepatomegali, sitopeniler (anemi, trombositopeni, nötropeni), hipertrigliseridemi, hipofibrinojenemi, ferritin yüksekliği, nörolojik semptomlar (konvülziyon, ensefalopati), hemofagositoz.
📋 Diagnostic Methods
HLH-2004 tanı kriterleri (5/8 kriter pozitifliği), STXBP2 gen mutasyon analizi, NK hücre aktivite testi (azalmış veya yok), granül ekzositoz testi (CD107a mobilizasyonu), serum sCD25 (sIL-2R) yüksekliği.
💊 Treatment Options
İmmünsüpresif tedavi (deksametazon, etoposid, siklosporin A), allojenik hematopoietik kök hücre nakli (küratif tedavi), destek tedavisi (antibiyotikler, kan ürünleri).
⚠️ Complications
Multipl organ yetmezliği, nörolojik hasar, sekonder enfeksiyonlar, kanama, tedaviye bağlı toksisite (etoposid), nakil sonrası graft-versus-host hastalığı.
Frequently Asked Questions
❓ What is Ailesel hemofagositik lenfohistiyositoz tip 5?
Ailesel hemofagositik lenfohistiyositoz tip 5; family hemofagocytic lymphohistiocytosis type 5 is a genetic disease, characterized by excessive activation of immune system. In this disease, it produces an excessive amount of immune cells (lenfosit and hythiocytes) to fight body infections, and these cells impose tissue and organs by multiplying uncontrolled. STXBP2 is caused by mutations in the gene, and often occurs with symptoms such as fever, liver and dalak growth, reduction in blood cells. If it is not treated, it can quickly create vital danger and may require intense treatments such as bone marrow transplant.
❓ What is familial hemophagocytic lymphohistiocytosis 5 in Turkish?
The Turkish equivalent of "familial hemophagocytic lymphohistiocytosis 5" is Ailesel hemofagositik lenfohistiyositoz tip 5.
❓ Which medical field is Ailesel hemofagositik lenfohistiyositoz tip 5 related to?
This term belongs to the Diseases category.