Detailed Case History and Examination: Massive Hepatosplenomegaly Due to Myelofibrosis

I. Patient Profile:

Name: Ms. Radha Devi

Age: 68 years

Gender: Female

Education: Primary School

Occupation: Retired Agricultural Worker

Date of Admission: September 1, 2025

Date of Examination: September 4, 2025

Informant: Patient's Daughter

Reliability of Information: Reliable

II. Chief Complaints (C/C) - Chronological Order (Earliest to Latest):

1. Increasing generalized weakness and easy fatigability for 8 months

2. Progressive abdominal distention and feeling of fullness for 6 months

3. Weight loss for 5 months

4. Occasional left upper abdominal pain for 4 months

5. Recurrent mild fever (low-grade) for 3 months

6. Occasional bleeding gums for 2 months

III. History of Present Illness (HPI):

Ms. Radha Devi, a 68-year-old female, was reportedly active and independent until approximately 8 months prior to presentation, when she began experiencing increasing generalized weakness and easy fatigability. These symptoms have been progressively worsening, significantly impacting her daily activities and requiring frequent rest. She has no history of any associated muscle cramps or numbness.

About 6 months ago, she noticed a gradual onset of abdominal distention, which has steadily increased in size, becoming generalized and associated with a persistent feeling of fullness and discomfort, especially after meals. She reports feeling "full quickly." There is no history of associated vomiting or diarrhea. Bowel habits are regular.

Approximately 5 months ago, her family noted significant, unintentional weight loss despite a seemingly normal appetite initially. The weight loss has continued progressively, leading to visible emaciation.

For the last 4 months, she has experienced occasional, dull aching pain in her left upper abdomen, which is non-radiating and sometimes exacerbated by food intake or deep breathing. It is partially relieved by lying down.

Over the last 3 months, she has had recurrent episodes of low-grade fever (not measured, but perceived as "warm" by her daughter), often accompanied by night sweats. These fevers are intermittent and resolve spontaneously. She has no history of chills or rigors.

For the past 2 months, she has intermittently noticed bleeding from her gums, especially during brushing. She has no history of any other significant bleeding from any site, including epistaxis, hematemesis, or melena. There is no history of altered sensorium, disorientation, or abnormal sleep-wake cycles. She specifically has no history of abdominal lump, dysphagia, or decreased urine output.

IV. Past History:

Chronic Illnesses: No history of chronic illnesses.

Similar history in the past: No history of similar presentation in the past. This is her first presentation with these constellation of symptoms.

History of Jaundice: No history of jaundice.

History of Blood Transfusion: No history of blood transfusion.

History of any drug intake: No regular medications. No history of hepatotoxic drug intake.

History of TB/DM/HTN/Bronchial Asthma/Epilepsy: No history of TB, DM, HTN, Bronchial Asthma, or Epilepsy.

V. Family History:

Similar history in family or in surroundings: No family history of blood disorders, liver disease, or other chronic illnesses.

Family history of TB/HTN/DM/Bronchial Asthma: No family history of TB, HTN, DM, or Bronchial Asthma.

VI. Personal History:

Diet: Mixed diet, but significantly reduced oral intake for the past 5 months due to early satiety and a feeling of fullness. No history of specific food allergies.

History of Loss of weight and Loss of Appetite: Significant unintentional weight loss for 5 months, accompanied by reduced appetite for 3 months.

Bowel and Bladder habits: Bowel habits are regular. Bladder habits are normal, no history of dysuria or changes in urine output.

Sleep Disturbances: Occasional night sweats for 3 months, otherwise no history of significant sleep disturbances.

Habits:

Smoking: No history of smoking.

Alcohol: No history of alcohol consumption.

History of any exposure and travel to Endemic areas: No history of any exposure or travel to endemic areas.

Drug History:

Allergy to any drugs: No history of allergy to any drugs.

Currently not on any regular medications.

General Examination:

Conscious/Oriented/Cooperative: Conscious, oriented to time, place, and person, cooperative.

Built/Nourishment: Asthenic build, poorly nourished with significant muscle wasting and subcutaneous fat loss. Skin fold thickness markedly reduced.

Pallor: Present (conjunctival and nail beds, marked).

Icterus: Absent.

Cyanosis: Absent.

Clubbing: Absent.

Edema: Absent.

Lymphadenopathy: Mild cervical and axillary lymphadenopathy (non-tender, firm, mobile) present bilaterally. No history of supraclavicular or inguinal lymphadenopathy.

Signs of Chronic Liver Disease :

Alopecia: Absent.

Icterus: Absent.

Parotid Gland Enlargement: Absent.

Spider Naevi: Absent.

Gynaecomastia: Not applicable (female patient).

Ascites: Present (moderate to gross).

Testicular Atrophy: Not applicable (female patient).

Palmar Erythema: Absent.

White Nails (Leuconychia): Absent.

Flapping Tremors (Asterixis): Absent.

Dupuytren's Contracture: Absent.

External Markers of HIV Infection: Absent.

Vital Signs:

Pulse: 92 beats/min, regular, normal volume, normal character, all peripheral pulses palpable.

BP: 100/60 mmHg (right arm, supine).

Respiratory Rate: 18 breaths/min, abdomino-thoracic, regular.

Temperature: 99.0°F (mildly febrile).

JVP: Not elevated, 4 cm above sternal angle. No history of prominent 'a' or 'v' waves. Hepatojugular reflux negative.

Fundus Examination: KF Ring (Kayser-Fleischer ring) absent.

Abdominal Examination:

Oral Cavity:

Hygiene: Fair.

Teeth: No history of caries, no history of dentures.

Tongue: Normal size, clean surface, pale color. No history of deviation, no history of tremors.

Palate/Tonsils/Breath Smell/Oropharynx: Palate and tonsils normal. Breath normal. Oropharynx clear. Gums appear slightly swollen and erythematous with few areas of bleeding.

INSPECTION:

Shape: Grossly distended, asymmetrical, bulging more towards the left upper quadrant.

Flanks: Full.

All quadrants: Move equally with respiration (though restricted due to distension).

Umbilicus: Everted, central, no history of discoloration.

Skin: Stretched, shiny. No history of sinuses, nodules, localized bulging/retraction, or abdominal striae.

Movement of abdominal wall with respiration: Reduced but present.

Visible masses: Absent (though prominent left upper quadrant bulge).

Visible dilated veins: Absent.

Visible Gastric/Intestinal Peristalsis: Absent.

Visible Pulsations: Absent.

Visible Scars/Pigmentation: Absent.

External Genitalia: Normal female genitalia.

Hernial Orifices: No obvious swelling or impulse on coughing at inguinal or femoral orifices.

PALPATION:

Local Rise of Temperature: Absent.

Tenderness: Mild tenderness in the left hypochondrium. No history of generalized tenderness.

Guarding/Rigidity: Absent.

Rebound Tenderness: Absent.

Superficial palpation: No Sister Joseph nodule. Abdomen tense, difficult to palpate deeply. Dipping palpation used.

Palpation for Organs (using dipping palpation due to ascites):

Liver: Palpable 8 cm below the right costal margin in the right mid-clavicular line. Edge feels blunt, surface appears smooth, consistency is firm. Mildly tender. Moves with respiration. Liver span (percussion) 18 cm. No history of pulsatility.

Spleen: Palpable 12 cm below the left costal margin, extending to the right iliac fossa, crossing the midline. Edge feels blunt, surface appears smooth, consistency is very firm/hard. Mildly tender. Moves with respiration. Inability to insinuate fingers between mass and margins. A definite splenic notch is palpable.

Kidney: Both kidneys not palpable.

Gall Bladder: Not palpable.

Urinary Bladder: Not palpable.

Aorta and common femoral vessels: Aorta not readily palpable due to distension. Femoral pulses palpable, normal volume and character.

Palpable mass: The massive spleen is the predominant palpable mass. No history of other discrete masses.

Abdominal Girth: 115 cm (measured at the level of the umbilicus).

PERCUSSION:

Liver Dullness: Upper border at 4th right intercostal space in mid-clavicular line. Lower border at 8 cm below right costal margin in mid-clavicular line. Liver span 18 cm.

Spleen: Traube’s space is dull. Castell's method: dull on full inspiration. Nixon's method: dullness >12 cm, extending widely.

Ascites:

Shifting Dullness: Positive. Flank dullness present, shifts to the dependent side when the patient is turned.

Fluid Thrill: Positive.

Puddle Sign: Not specifically elicited (shifting dullness already positive indicating significant fluid).

Renal Angle Percussion: Resonant bilaterally.

AUSCULTATION:

Bowel sounds: Normal (3-4/min), normal pitched.

Venous Hum: Absent.

Arterial Bruits: No history of aortic, renal, or splenic bruits.

Liver Bruit: Absent.

Friction Rub/Succussion Splash: Absent.

Uterine Souffle: Not applicable.

Per Rectal Examination / Per Vaginal Examination (Females):

Per Rectal Examination: (Done with consent) No history of perianal abnormalities. Anal sphincter tone normal. No history of rectal mass. No history of mass in Pouch of Douglas. Finger withdrawn, no blood, pus, or mucus.

Examination of Other Systems:

CVS: Apex Beat in 5th left intercostal space, just medial to mid-clavicular line, normal character. S1 S2 heard in all areas, no murmurs. No added sounds.

RS: Normal Vesicular Breath Sounds bilaterally. No adventitious sounds (rhonchi, crepitations, pleural rub). Chest expansion symmetrical but reduced due to massive organomegaly and ascites.

CNS: No history of flapping tremors. Sensorium is clear, no history of altered sensorium. All reflexes (deep tendon reflexes, superficial reflexes) are normal. No focal neurological deficits.

VII. Summary:

Ms. Radha Devi, a 68-year-old female, presents with an 8-month history of progressive generalized weakness and easy fatigability, followed by progressive abdominal distention for 6 months, significant weight loss for 5 months, occasional left upper abdominal pain for 4 months, recurrent low-grade fevers and night sweats for 3 months, and occasional bleeding gums for 2 months. On examination, she appears poorly nourished with marked pallor and mild cervical and axillary lymphadenopathy. Vital signs are stable with mild pyrexia. Abdominal examination reveals massive hepatosplenomegaly (liver palpable 8 cm, spleen palpable 12 cm below costal margins, extending to right iliac fossa), tense ascites with positive shifting dullness and fluid thrill, and mild tenderness over the left hypochondrium. Oral examination shows bleeding gums. There are no stigmata of chronic liver disease (e.g., icterus, spider naevi, palmar erythema) and no signs of hepatic encephalopathy.

VIII. Differential Diagnosis:

1. Myelofibrosis with Massive Hepatosplenomegaly: This is the most likely diagnosis given the constellation of symptoms (progressive weakness, weight loss, night sweats, massive splenomegaly, hepatomegaly, bleeding gums suggestive of pancytopenia/thrombocytopenia), which are classic features of myelofibrosis. The absence of typical signs of chronic liver disease (like icterus, spider naevi) despite ascites and organomegaly further supports a hematological cause. Bone marrow examination, peripheral blood smear for leucoerythroblastic picture, and genetic testing (e.g., JAK2 V617F mutation) would be crucial for confirmation.

2. Chronic Myeloid Leukemia (CML) in accelerated phase/blast crisis: CML can present with massive splenomegaly, weight loss, fever, and generalized weakness. However, the specific type of abdominal pain and the degree of hepatomegaly might differ, but it remains a strong differential. A complete blood count with differential and Philadelphia chromosome/BCR-ABL fusion gene testing would be necessary.

3. Leishmaniasis (Kala-azar): In endemic areas, visceral leishmaniasis can cause massive splenomegaly, hepatomegaly, fever, weight loss, and pancytopenia. A history of travel to endemic areas would be important. Diagnosis involves serology, bone marrow aspiration, or splenic aspiration.

4. Lymphoma (especially Hepatosplenic T-cell Lymphoma or aggressive B-cell Lymphoma): Lymphomas can present with constitutional symptoms (fever, weight loss, night sweats), generalized lymphadenopathy (as seen here), and significant hepatosplenomegaly. Biopsy of a lymph node or bone marrow would be diagnostic.

5. Cirrhosis with Portal Hypertension (Non-alcoholic/Cryptogenic): While the patient has hepatosplenomegaly and ascites, the absence of other chronic liver disease stigmata and the presence of constitutional symptoms and lymphadenopathy make primary liver disease less likely as the sole etiology for massive organomegaly. However, cirrhosis could be a co-existing or complicating factor, or the portal hypertension could be secondary to the underlying hematological disorder.

6. Gaucher's Disease (Lysosomal Storage Disorder): This rare genetic disorder can cause massive hepatosplenomegaly, bone pain, and cytopenias. It's less likely given the age of onset but could be considered in the workup of unexplained massive organomegaly.