Budd-Chiari Syndrome and Dominican Population
There is no evidence of a higher incidence of Budd-Chiari syndrome specifically in the Dominican population. The available clinical guidelines and research do not identify Dominican ethnicity or geographic origin as a risk factor for this condition.
Established Risk Factors for Budd-Chiari Syndrome
The etiology of Budd-Chiari syndrome (BCS) is well-characterized in the literature, and myeloproliferative neoplasms are the most common underlying cause, present in approximately 49% of cases 1. The condition is fundamentally a thrombotic disorder affecting hepatic venous outflow, and its risk factors are related to prothrombotic states rather than specific ethnic or geographic populations 2.
Primary Thrombotic Risk Factors
The major etiological factors include:
- Myeloproliferative neoplasms (49% of BCS cases), with JAK2 mutation positivity in 29% 1
- Inherited thrombophilias (21% of cases) including Factor V Leiden mutation (7-32% prevalence), prothrombin G20210A gene variant, protein C deficiency, protein S deficiency, and antithrombin deficiency 1
- Acquired thrombophilias (44% of cases) 1
- Hormonal factors (38% of cases), particularly oral contraceptives (33%) and pregnancy (6%) 1
- Paroxysmal nocturnal hemoglobinuria (19% of cases) 1
Multiple Risk Factors Are Common
Most patients (84%) have at least one identifiable thrombotic risk factor, and nearly half (46%) have more than one 2. This emphasizes that BCS results from underlying prothrombotic conditions rather than ethnic predisposition.
Geographic and Ethnic Considerations
The available evidence base comes primarily from European cohorts 2 and does not identify any specific ethnic or geographic populations—including Dominican—as having increased susceptibility. BCS is a rare disease with an incidence of 0.1 to 10 per million inhabitants per year globally 3, and this rarity is consistent across populations.
Clinical Implication
If you are evaluating a patient of Dominican origin for possible BCS, focus your workup on the established thrombotic risk factors rather than ethnicity 4. The diagnostic approach should include:
- Doppler ultrasound as first-line imaging (sensitivity >75%) 4
- Thrombophilia screening including Factor V Leiden, prothrombin G20210A, protein C/S, and antithrombin levels 4
- JAK2V617F mutation testing and evaluation for myeloproliferative neoplasms 4
- Assessment for antiphospholipid antibodies 1
Initiate anticoagulation as soon as the diagnosis is confirmed and continue indefinitely 5, as this is the cornerstone of management regardless of the patient's ethnic background.