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Multiple Endocrine Neoplasia Type I
Also called MEN I, Wermer Syndrome
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Multiple endocrine neoplasia, also called MEN type I or Wermer syndrome is an inherited disorder involving tumors or cancers of several endocrine glands. There is also a multiple endocrine neoplasia type II, which involves different endocrine glands. In MEN I multiple glands become overactive. The glands involved in the tumor include the pancreas, the parathyroid gland and the pituitary gland.
Multiple endocrine neoplasia type I is caused by a genetic defect that carries the genetic blueprint for a protein called menin. The tumors develop in the same person but do not develop necessarily at the same time. It can affect a person at any age and seems to affect men as well as women in equal numbers. Because it is genetic, those who have MEN I are more likely to have a family history of MEN I in parents, aunts, uncles or siblings.
The symptoms of multiple endocrine neoplasia type I include abdominal pain from pancreatic involvement, anxiety, bloating after meals, pain in the upper abdomen or lower chest that is relieved by using antacids, black tarry stools, tiredness, lesser sexual interest, headache from pituitary involvement, infertility and a lack of menstrual periods, poor appetite, loss of facial or body hair, decreased coordination, mental changes or confusion, pain in the muscles, cold sensitivity, nausea and vomiting, weight loss that is unintentional, visual disturbances and weakness of muscles.
If severe, doctors can notice signs of MEN I including high blood calcium level, coma, kidney stones, pituitary findings such as galactorrhea (breast milk when not breastfeeding), low blood sugar and low blood pressure.
It is difficult to diagnose MEN Type I because the findings don't present all at the same time in many cases. Doctors check a cortisol level and do a CT scan of the abdomen to check for tumors in the pancreas or abnormalities in the adrenal glands. Fasting blood sugars are checked to see if the pancreas has any active tumors. CT scans of the head are done to check for pituitary findings such as tumors of the pituitary gland. An MRI of the head or abdomen can be done instead of a CT scan and may afford better resolution. An insulin test checks for an excess of insulin as seen in pancreatic tumors. A biopsy of the parathyroid gland and a serum calcium test can show if the parathyroid gland has tumors and increased activity. Other tests that check for pancreatic problems include a serum gastrin and serum glucagon level. Pituitary tests include a serum FSH or a serum LH level. A serum prolactin level will check for pituitary involvement. Parathyroid hormone testing is also done. The parathyroid gland is also checked for using an ultrasound of the neck.
Multiple endocrine neoplasia type I can be treated to a degree. With multiple areas of involvement, the treatment can be complex. Bromocriptine is used to shrink pituitary tumors in lieu of doing surgery to remove the pituitary gland. The parathyroid glands can be removed but the body has a hard time regulating calcium levels after that so removing the parathyroid glands is done as a last resort.
Because these people often get stomach ulcers, they are treated with antacids, H2 blockers or proton pump inhibitors to reduce stomach acid. Any time the pituitary is removed, there must be hormone replacement in order to put back the hormones involved in pituitary function.
Most pituitary gland and parathyroid gland tumors remain noncancerous. The biggest problem with pancreatic tumors is that some will turn cancerous, spread to the liver and cause death. Most of the symptoms of MEN I are completely treatable with medications and the sufferers can live a relatively normal life.