ADPLD
ADPLD Autosomal Dominant Polycystic Liver Disease is the presence of liver cysts alone. With ADPLD there is a mutation along the DNA chain, a different alliel from the DNA mutation seen with ADPKD. Both diseases are inherited and both diseases can have spontaneous occurrences (8%) meaning no one else in the family has liver cysts and suddenly liver cysts are seen in a family member. From this point it acts exactly like inherited ADPLD and can be transmitted through the genes to children. The chance for inheritance is the flip of a coin. Each subsequent birth has a 50 50 chance of inheriting ADPLD.
There is another disease called Hepatic Lymphangiomatosis that sometimes mimicks PLD Polycystic Liver Disease. Check with your doctor.
Hormones affect liver cyst formation. As a result, PLD is seen with eight times more frequency in females than males.
Except for the gene mutation, ADPLD (liver cysts alone) and ADPKD (both liver and kidney cysts) are very similar in almost every way. Maintaining the integrity of ones own personal DNA can squelch the second hit mechanism that causes an increase in cyst numbers and symptoms. The second hit is active in both ADPLD and ADPKD.
ADPLD and ADPKD have similar:
pathogenesis
manifestations
management.
92% have no symptoms requiring liver de-bulking. Liver function rarely fails.
". . .those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower
levels of total cholesterol and triglycerides.
Whether patients with isolated ADPLD are at an increased risk for intracranial aneurysms and valvular heart disease is not known.
The higher prevalence of mitral valve abnormalities in patients with ADPLD compared with their unaffected relatives indicates
that isolated ADPLD, like ADPKD, is a systemic disorder with non cystic as well as cystic manifestations."
mTor helps decrease the formation of cysts.
ADPLD Study Results
ADPLD is the absence of any kidney cysts.
ADPLD Mayo study completed with 146 participants.
49 had ADPLD.
Of the 49 participants with ADPLD, 38 were symptomatic.
97 of the other participants were previously undiagnosed but at risk for ADPLD.
Liver functioning rarely declines, however with massive polycystic liver disease there are some abnormalities
in blood work.
All of the ADPLD diagnosed individuals had:
↑ alkaline phosphatase
↑ total bilirubin
↓ cholesterol
↓ triglycerides
The lower cholesterols were initially thought to be from malnutrition from liver cysts but all participants with ADPLD had a lower cholesterol and lower triglycerides. This is now thought to be something inherent to liver cysts. Liver cysts arose from biliary microhamartomas and from peribiliary glands.
Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or unaffected individuals.
Definition of ADPLD
ADPLD ゠ 20 or more liver cysts in the absence of any kidney cysts
ADPLD ゠ At risk individuals aged 40 or younger with any liver cysts.
ADPLD ゠ At risk individuals 40 yrs or older with 4 or more liver cysts.
Indeterminate: 40 yrs or younger without liver cysts
Indeterminate: 40 yrs or older with 1-3 liver cysts.
Unaffected:::::: 40 yrs or older without liver cysts.
49 participants were diagnosed with ADPLD.
38 of the 49 were symptomatic.
21 of 49 required:
cyst fenestration
partial hepatectomy
liver transplant
none received TAE
17 of the 21 had liver resection.
There was no mortality.
41 of 139 had ↑ blood pressure.
There was no difference in blood pressure with or without ADPLD.
Gross histology appearance was no different from ADPKD with severe manifestation of liver cysts.
Brain MRI
Whether patients with isolated ADPLD are at an increased risk for intracranial aneurysms and valvular heart disease is not known. This study was too small to determine if there was an ↑ risk; whereas with ADPKD this risk is increased. 10 of 49 with ADPLD had mitral leaflet abnormalities as opposed to 2 of the 30 indeterminate participants.
Estrogen Severe PLD
Only 8% of people with PLD will go on to develop severe PLD. At the Mayo following the first ten cases they had performed for a PLD liver resection, a follow up visit for this patient was the very first time Mayo doctors discovered that PLD was activated by hormones.
A woman with severe PLD wanted to wear a waisted dress for her wedding. She had a repeat MRI following her pregnancy birth. Her liver had grown. Researchers have long discovered that liver cysts have estrogen receptors within their cell walls.
Article
". . .estrogen can promote liver cyst growth via multiple mechanisms."
Article
". . .risk of having massive polycystic liver disease is related to female gender,
pregnancy, and exposure to exogenous sources of female steroid hormones such as contraceptive
steroids or use of female hormone replacement therapy by postmenopausal women."
76% of individuals with ADPLD have the second hit present. For PLD individuals the second hit is
active and plays an important role in liver cyst growth. It is for this reason that among the items
to be avoided include exposure to hormone disruptors such as bleach, pesticides, herbicides,
chemicals xenoestrogens.
Article
"1 year of estrogen use in postmenopausal ADPKD patients selectively
increases total liver volume by 7%, whereas total kidney volume remains unaffected."
Article
"Female sex,estrogen use and multiple pregnancies are risk factors polycystic liver growth."
Many doctors when they see a woman in her 30's with severe PLD recommend
she seek alternatives to pregnancy as the hormones of pregnancy can promote PLD liver growth.