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Impressing 𝘾𝙤𝙣𝙨𝙪𝙡𝙩𝙖𝙣𝙩 𝙤𝙣 𝙍𝙤𝙪𝙣𝙙 ❓

Residents use the fancy diagnosis and terms like
𝐇𝐋𝐇 - Hemophagocytic lymphohistiocytosis

A 🧵 on what is 𝐇𝐋𝐇 and how to diagnose it
#MedTwitter
#HLH
#MedEd
#usmle

📍Hyperinflammatory syndrome caused by ⬆️cytokine release

📍 Either due to genetic or acquired overactivation of CD8 T cells and natural killer (NK) cells

✴️ Hemophagocytosis is neither sensitive nor specific for HLH

🅲🅻🅰🆂🆂🅸🅵🅸🅲🅰🆃🅸🅾🅽 👇

Lets discuss one of the 𝖈𝖆𝖘𝖊 𝖘𝖈𝖊𝖓𝖆𝖗𝖎𝖔𝖘 that came to AIIMS:

24,💃, without any Co-morbidties

C/O Fever, Malaise, Sore throat, Headache

𝐎𝐧 𝐄𝐱𝐚𝐦𝐢𝐧𝐚𝐭𝐢𝐨𝐧 :
🔸HR ~125/min 🔺
🔸Severe Pallor
🔸Cervical Lymphadenopathy
🔸Petechial Rash

Investigation👇

Peripheral Smear 👇 - Atypical lymphocytes {Downey Cells}
📍Palpable enlarged spleen
📍 Ctyopenias Worsening
📍 TG - 402 📈
📍 Ferritin - 3K🚀

After suspicion of 𝗘𝗕𝗩, PCR was sent which came out to be ➕ve ♀️

A Diagnosis of 2' 𝐇𝐋𝐇 was made

𝐃𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬 : Challenging
🔸Nonspecific symptoms
🔸Overlapping features with sepsis and hematologic malignancy
🔸Same disorders can trigger HLH

🅱🆄🆃

Essential as without Rx, 𝐇𝐋𝐇 is FATAL🔴

𝘿𝙞𝙖𝙜𝙣𝙤𝙨𝙩𝙞𝙘 𝘾𝙧𝙞𝙩𝙚𝙧𝙞𝙖 👇

🅷 - 🆂🅲🅾🆁🅴
📍Retrospective data of 312 adult population with non-familial HLH was used to design the score

📍The best cutoff value: 169 (Sn-93%, Sp-86%)

🔸"HLH-2004 criteria" > H-Score - 𝘀𝗶𝗺𝗶𝗹𝗮𝗿 𝘀𝗲𝗻𝘀𝗶𝘁𝗶𝘃𝗶𝘁𝘆 𝗯𝘂𝘁 𝗵𝗶𝗴𝗵𝗲𝗿 𝘀𝗽𝗲𝗰𝗶𝗳𝗶𝗰𝗶𝘁𝘆

Investigations to be sent 👇

🦠 Associated with HLH

𝐕𝐢𝐫𝐚𝐥 > 𝐁𝐚𝐜𝐭𝐞𝐫𝐢𝐚𝐥 > 𝐅𝐮𝐧𝐠𝐚𝐥

doi.org/10.1016/S0140-…

𝐌𝐚𝐧𝐚𝐠𝐞𝐦𝐞𝐧𝐭 of sHLH 👇

doi.org/10.1016/S2665-…

Familial HLH in Adults 👇
doi.org/10.1182/blooda…

Two most common genes seen in "adult" HLH are 𝗦𝗧𝗫𝗕𝗣𝟮 and 𝗥𝗔𝗕𝟮𝟳𝗔

𝐈𝐧𝐝𝐢𝐜𝐚𝐭𝐢𝐨𝐧𝐬 𝐨𝐟 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐓𝐞𝐬𝐭𝐢𝐧𝐠
🔸Earlier onset
🔸Recurrent HLH
🔸Refractory HLH
🔸Family History
🔸Consanguinity
🔸Albinism
🔸Without an apparent trigger or predisposing disease

Hope you find it useful🙏