Abstract

Gelatinous transformation of bone marrow (GTBM) is a rare and underdiagnosed condition, with an incidence of 0.2%, characterized by fat cell atrophy and deposition of gelatinous material in the bone marrow that creates an unfavorable environment for hematopoiesis. It is associated with diverse conditions including malnutrition, infections, heart failure, endocrinopathies, autoimmune disorders, and malignancies. We present a case of an 85-year-old man with heart failure with preserved ejection fraction (HFpEF), who presented after a fall with generalized weakness. Labs revealed pancytopenia and hypothyroidism. A bone marrow biopsy showed GTBM. Following treatment for HFpEF and hypothyroidism, his pancytopenia resolved. GTBM is potentially reversible, but diagnosis requires identifying and managing the underlying cause.

Case

An 85-year-old man of Ghanaian origin with a history of urinary retention (likely BPH) and a previously resected benign pituitary tumor presented to the ED after a mechanical fall, decreased oral intake, and generalized weakness. He appeared malnourished despite a BMI of 20.7 kg/m² and was found to be hypothermic and hypoglycemic. Physical exam revealed bilateral lung crackles and lower extremity pitting edema. Labs showed pancytopenia with WBC 2.43 K/uL, ANC 1.07 K/uL, RBC 3.76 M/uL, Hgb 6.8 g/dL, MCV 90.7 fL, PLT 68 K/uL. Chest X-ray and CT showed a left lower lobe consolidation and bilateral pleural effusions with ascites, suggesting pneumonia and volume overload due to heart failure. Echocardiogram revealed EF 60%, severe LV hypertrophy, moderately dilated LA, mild tricuspid regurgitation, and mild pulmonary hypertension.

He was empirically treated with cefepime and azithromycin for presumed sepsis. Thyroid studies revealed TSH 9.38 and free T4 0.43, consistent with hypothyroidism. He was started on levothyroxine 25 mcg, Jardiance 10 mg, and spironolactone 25 mg for HFpEF. HIV testing was negative. Hematology was consulted for pancytopenia evaluation. Peripheral smear showed normocytic, normochromic RBCs with few target cells, decreased platelets, and no immature WBCs.

Bone marrow biopsy revealed gelatinous transformation (serous atrophy), residual trilineage hematopoiesis with full maturation, and no evidence of myeloid or lymphoid malignancy. PSA, zinc, and copper levels were normal. Vitamin B12 and folate deficiencies, aplastic anemia, MDS, amyloid deposition, and malignant infiltration were ruled out. After treatment, blood counts normalized: WBC 6.74 K/uL, ANC 4.35 K/uL, RBC 4.70 M/uL, Hgb 13.8 g/dL, MCV 87.4 fL, PLT 138 K/uL.

Discussion

GTBM is marked by fat cell atrophy and gelatinous material deposition, largely hyaluronic acid, which disrupts hematopoiesis by impairing the microenvironment. It signals underlying systemic disease rather than being a primary disorder. GTBM has been linked to malnutrition, severe infections, CHF, endocrinopathies, autoimmune diseases, and malignancies.

Infections may contribute through pro-inflammatory cytokines like IL-1, IL-2, and TNF, common in patients with AIDS, sepsis, or malignancies under catabolic stress. GTBM diagnosis is confirmed by bone marrow biopsy. Conditions like aplastic anemia, MDS, infiltrative disorders, vitamin deficiencies, and malignancy must be excluded, as done in this case.

Importantly, GTBM can be reversible if the underlying cause is treated. In our patient, correcting hypothyroidism and managing HFpEF led to resolution of pancytopenia. In some cases, follow-up marrow biopsies have shown reversal of GTBM. While nutritional support is the mainstay in malnutrition-associated cases, G-CSF and erythropoietin have been used in refractory cases.

Despite its rarity, GTBM may be underrecognized due to low clinical suspicion. Including GTBM in the differential for unexplained pancytopenia, especially in patients with systemic illness, is essential for timely diagnosis and treatment.

Conclusion

GTBM is a reversible and underdiagnosed marrow condition associated with systemic illnesses including heart failure and hypothyroidism, as in our case. Diagnosing GTBM requires a high index of suspicion and exclusion of other pancytopenia causes. Early recognition and treatment of the underlying disorder can reverse both GTBM and associated cytopenias.

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2025
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