Abstract:
Haemophagocytic lymphohistiocytosis (
HLH
) is a rare aggressive condition
due to
abnormal immune activation and hyperinflammatory response. It can be fatal if not treated promptly. Haemophagocytic lymphohistiocytosis frequently affects infants < 3 months of age, but it
also
occurs in children & adults. It can be classified as primary or secondary. Primary
HLH
is caused by genetic mutation and mainly occurs in the paediatric population. Secondary
HLH
is triggered by infections
such
as Dengue, Hepatitis B & C, EBV, CMV, HIV & Covid 19, and rheumatological conditions like SLE and malignancy.
HLH
frequently presents as pyrexia of unknown origin with
pancytopenia
and high transaminases. The diagnosis is mainly based on
HLH
-2004 criteria. Early diagnosis and early initiation of
HLH
-specific therapy may influence the prognosis of the disease. Definite treatment of
HLH
is based on
HLH
- 2004 protocol which includes early use of cyclosporin with corticosteroids and chemotherapy with Etoposide. Here we report a 26-year-old female has presented with prolonged fever with hepatosplenomegaly and
pancytopenia
. She was diagnosed to have
HLH
and treated
according to
HLH
-2004 protocol with cyclosporine, dexamethasone and etoposide.
Keywords
Haemophagocytic lymphohistiocytosis (
HLH
), abnormal immune activation, Etoposide
Case presentation
A 26-year-old female presented to the primary care unit with on-and-off fever, lethargy and tiredness for 20 days duration. She had
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with sputum for 3 days. She
also
had
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of appetite and loss of weight. She did not have
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throat, night sweats, haemoptysis or contact
history
of Tuberculosis There was no
history
of chest pain, shortness of breath, headache or dizziness. She did not have any features of meningeal irritation. She denied nausea, vomiting, abdominal pain or altered bowel habit. She did not have dysuria, haematuria or increased frequency. Urine output was good.
There was no
history
of joint pain, swelling, oral ulcers, excessive hair loss or rashes. She denied any bleeding manifestations s. She denies a
history
of recent travel or contact with animals. There were long terms for long-term drug use. She denied high-risk sexual activity, blood transfusion or drug abuse in the past. There was no significant past medical or family
history
. But she had 3 hospital admissions within the
last
2 months. The first admission was managed as Dengue haemorrhagic fever with Dengue viral hepatitis. Second and third admissions were treated as sepsis with post-viral hepatitis. She had persistent
pancytopenia
with high transaminase levels in all three previous admissions. Menstrual
history
and obstetrics
history
were unremarkable. She is a mother of
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ten-month-old child.
On examination, she was drowsy, ill-looking pale. She was mildly dyspneic and tachycardic with stable blood pressure. Her oxygen saturation at room air was 90%. There was no neck stiffness or lymphadenopathy. There were no stigmata of Infective endocarditis or features of autoimmune diseases. There were no
or IV injection sites. She had bilateral crepitation in the lung bases and hepatosplenomegaly. The rest of the examinations were normal.
Full blood counts showed
pancytopenia
( WBC - 3.11x109/
uL
, Neutrophils – 1.8x109/
uL
, Lymphocytes – 1.05 x109/
uL
, Eosinophils- 0.01x109 /
uL
, Haemoglobin- 5.5 /dl, Platelets- 119x109/
uL
), increased transaminase levels ( AST - 767 U/l, ALT -518 U/l) with hyperferritinemia (-84000 ng/ml) and hypertriglyceridemia (486 mg/dl). Plasma fibrinogen level was normal (240 mg/dl) but the ROTEM study showed mild fibrinogen deficiency.