Multi-organ hereditary hemorrhagic telangiectasia: A case report

Figure 1 Distribution of hereditary hemorrhagic telangiectasia in this family. The information of I1 and I2 was unknown.

Figure 2 Computed tomography scan of the abdomen in the patient with hereditary hemorrhagic telangiectasia. A: Dilated and tortuous hepatic arteries (arrow); B: Early enhancement of enlarged hepatic veins (thick arrows), diffuse parenchymal telangiectasia (curved arrows), and an incidentally found liver cyst (thin arrow).

Figure 3 Identification of ALK1 mutations. A: Mutation of ALK1 in this hereditary hemorrhagic telangiectasia family. 1: Proband (III23); 2: Proband’s son (IV3); 3: Proband’s elder brother (III22). Arrows indicate the mutated nucleotide at position 1121 in exon 8 of ALK1; B: Sequence of exon 8 of ALK1 and the mutation exhibited in this hereditary hemorrhagic telangiectasia family. ALK8E1: Proband (III23); ALK8E2: Proband’s sister (III24); ALK8E3: Proband’s elder brother (III22); ALK8E4: Proband’s nephew (IV4); ALK8E5: Proband’s son (IV3); ALK8E6: Proband’s niece (IV2).

Figure 4 The c. 1121G>A mutation does not affect ALK1 gene expression. A: ALK1 protein of the wildtype and the arginine to glutamate substitution at amino acid position 374 (R374Q) groups were detected by immunoblot in HepG2, Hela, and 293T cell lines; B: Immunofluorescence assay was performed to visualize the expression and distribution of ALK1 in Hela and 293T cell lines. WT: Wildtype.

Figure 5 The arginine to glutamate substitution at amino acid position 374 mutation affects ALK1 kinase activity. A: Influence of ALK1 on Smad1 phosphorylation was investigated by immunoblotting. Protein levels of Smad1 and phosphorylated Smad1 (P-Smad1) were detected in HepG2, Hela, and 293T cell lines; B: Kinase activity of ALK1 was detected in the wildtype (WT) group and the mutant group through the BRE4 reporter luciferase assay (^aP < 0.05 and ^bP < 0.01 vs the wildtype group); C: Protein level of collagen-1 was detected by immunoblotting in HepG2, Hela, and 293T cell lines. R374Q: Arginine to glutamate substitution at amino acid position 374. WT: Wildtype.

Figure 6 Capsule endoscopy examination showed mucosal erosion in the stomach.