Analysis Of Clinical Manifestations, Identification Of ALK1 Gene Mutations And Changes Of Angiogenesis Related Proteins And Their Significances In Hereditary Hemorrhagic Telangiectasia

Part â…  Analysis of clinical features in hereditary hemorrhagic telangiectasiaObjectives To define clinical features of hereditary hemorrhagic telangiectasia patients. Methods The presence and localization of the dilatant nasal mucosa capillaries in proband was determined by endoscope of nasal cavity; clinical diagnosis of HHT was established by obtaining the patient's bleeding history, family history, and observation of bleeding sites. Additionary, X ray, Doppler sonography, oxygen saturation determination and routine laboratory tests, including bleeding time, platelet aggregation, etc, were also carried out for the establishment of diagnosis. Furthermore, relative family members were also screened for X ray, Doppler sonography, oxygen saturation. Pedigrees were outlined. Results In the investigated 9 members of the family, 5 members ( proband, her father, nephew, brother and daugter) had spontaneous recurrent epistaxis or other sites bleeding. Proband and her father had apparently telangiectasis of nasal mucosa or finger skin. No spontaneous bleedimg history existed in other 4 members. Family members who had bleeding histories without other positive sign or laboratory tests. Conclusion Clinical manifestations in the family is heterogenous, and this rare hereditary disease is descended in autosomal dominant manner.