Platelets (×109/l) | Bone marrow | Liver function tests | Liver histology | Portal hypertension | |
Sibling 1 | 38 | Normal with some increased metamyelocytes thought to be secondary to hypersplenism, progressing to hypocellular | Mildly elevated | Hepatic nodules with compression of sinusoids and atrophy of hepatocytes at edges* | Yes† |
Father | 98 | Not done | Normal | Hepatic nodules and sclerotic portal tracts, small/absent portal veins, incomplete septal fibrosis* | Yes* |
Sibling 2 | 73 | Hypocellular with areas suggestive of early secondary fibrosis | Mildly elevated | Hepatic nodules, small portal veins close to portal tracts in areas, shunt vessels in others* | Yes* |
Sibling 3 | 87 | Low normal cellularity progressing to hypocellularity§ with patchy areas suggestive of early secondary fibrosis | Normal progressing to mildly elevated | Sclerotic portal tracts, small/absent portal veins, incomplete septal fibrosis. Hepatocyte nodules with sinusoidal compression and dilation* | Yes‡ |
*At post-mortem examination. †On ultrasound scan at presentation. ‡On ultrasound scan 3.5 years after presentation. §3.5 years after presentation.