Conditions / Genetic
pulmonary venoocclusive disease 2
info · Genetic
A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal
A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.
Signs and symptoms
- Dyspnea
- Centrilobular ground-glass opacification on pulmonary HRCT
- Decreased DLCO
- Mediastinal lymphadenopathy
- Pulmonary venous occlusion
- Cough
- Pulmonary arterial hypertension
- Chronic fatigue
- Pulmonary capillary hemangiomatosis
Also known as: FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS