Advanced searches left 3/3

Abdominal Pain - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 November 2022

* If you want to update the article please login/register

Cyclic vomiting syndrome

Cyclic vomiting syndrome is a medical disorder that results in frequent episodes of nausea, vomiting, and exhaustion. In the majority of affected people, the signs and symptoms of each attack are very similar. However, many affected people suffer other signs during and between episodes, including pain, lethargy, digestive disorders such as gastroesophageal reflux, and irritable bowel syndrome, as well as fainting spells. People with cyclic vomiting syndrome are also more likely than people without the disorder to suffer depression, anxiety, and panic disorder. It is also unknown if these health issues are directly related to nausea and vomiting. Cyclic vomiting syndrome is often thought of as a manifestation of migraines, which are severe headaches often associated with hunger, nausea, vomiting, and extreme sensitivity to light and sound. Cyclic vomiting syndrome is most likely to be the same as or closely related to a condition called abdominal migraine, which is characterized by bouts of stomach pain and cramping. As an affected individual gets older, attacks of nausea, vomiting, or abdominal pain in childhood may be replaced by migraine headaches. Many people with cyclic vomiting syndrome or abdominal migraine have a family history of migraines. Most people with cyclic vomiting syndrome have normal intelligence, though some affected people have developmental delays or intellectual impairment. Autism spectrum disorder, which affects communication and social relations, has also been linked to cyclic vomiting syndrome. People with any of these additional features are predicted to have cyclic vomiting syndrome plus.

Source link: https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome


Mevalonate kinase deficiency

Both mevalonate kinase deficiency syndrome's less common form, hyperimmunoglobulinemia D syndrome, and a more severe form, mevalonic aciduria, are two forms. During fever episodes, people with HIDS often have enlargement of the lymph nodes, abdominal pain, joint pain, diarrhea, skin rashes, and headache. People with HIDS tend to a buildup of protein deposits in the kidneys that can lead to kidney failure. In the blood, most people with HIDS have abnormally elevated levels of immune system proteins called immunoglobulin D and immunoglobulin A. Some people with HIDS have high IgD and IgA levels, while others do not. Individuals with HIDS have no signs and symptoms of the condition that causes fever episodes, and in fact have a normal life expectancy. People with MVA have signs and symptoms of the condition at any time, not just during fever episodes. Eye problems such as inflammation of the eye, a blue tint in the white part of the eye, an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye may occur in childhood or adolescence. People with MVA may have an enlarged liver and spleen, lymphadenopathy, abdominal pain, diarrhea, and skin rashes during fever episodes. Children with MVA who are severely affected by multiple conditions may live only into early childhood, although mildly affected individuals may have a normal life expectancy.

Source link: https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency


Familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency is an inherited condition that affects the normal breakdown of fats in the body, resulting in an increase in certain types of fats. People with familial lipoprotein lipase deficiency are expected to have signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The abdominal pain is often due to pancreas inflammation. Pancreatitis infections appear as sudden attacks in these episodes. An affected individual may also have an enlarged liver and spleen. While fat levels rise, macrophages, specific white blood cells that carry excess fat in the hopes of eliminating fat from the bloodstream, absorb excess fat from the bloodstream. About half of people with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin, called eruptive xanthomas. When fat intake increases and levels rises, peak xanthomas appear; the deposits disappear as fat intake decreases and decreased. Due to its high fat content, the blood of people with familial lipoprotein lipase deficiency can have a milky appearance. When cholesterol levels in people with this disorder rise, fats can build up in blood vessels in the tissue that lines the back of the eye's tissue. This fat accumulation does not influence vision and will disappear if fats from the diet are reduced or body levels decreases. In people with familial lipoprotein deficiency, elevated fat levels can also result in neurologic abnormalities, including depression, memory loss, and mild intellectual decline.

Source link: https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency


Hereditary pancreatitis

Hereditary pancreatitis is a genetic disorder characterized by recurrent episodes of pancreatitis. An episode generally lasts from one to three days, but some people may experience intense episodes that last longer. Multiple episodes of acute pancreatitis recurring over a year seem to be a pattern of at least a year; the number of episodes a person encounters varies. Chronic pancreatitis is the result of persistent inflammation of the pancreas. abnormal calcium deposits in the pancreas by early adulthood are also present in hereditary pancreatitis. The pancreas is damaged by years of inflammation, contributing to scar tissue formation in place of functioning pancreatic tissue. In many affected individuals, pancreatic fibrosis leads to the absence of pancreatic function. About a quarter of individuals with hereditary pancreatitis will have type 1 diabetes mellitus by mid-adulthood, contributing to a decrease in insulin production as a result of a lack of pancreatic function by a loss of pancreatic function by mid-life; the risk of developing diabetes rises with age. Pancreatic cancer is a chronic pancreatic disease and inflammation of the pancreas. People with hereditary pancreatitis who also smoke, drink alcohol, have type 1 diabetes mellitus, or have a family history of cancer are at a greater risk of cancer in people with hereditary pancreatitis. Both pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in people with hereditary pancreatitis, but people with this condition are expected to have a normal life expectancy.

Source link: https://medlineplus.gov/genetics/condition/hereditary-pancreatitis


Familial cold autoinflammatory syndrome type 2

Familial cold autoinflammatory syndrome type 2 is a disorder that causes episodes of fever, skin rash, and joint pain. In some cases, episodes usually happen after an hour or more of cold exposure in those individuals who are sensitive to cold; however, in some cases, only a few minutes of cold exposure is required. A fever is the most common symptom of an episode in people with familial cold autoinflammatory syndrome type 2 (the most common symptom) during an episode.

Source link: https://medlineplus.gov/genetics/condition/familial-cold-autoinflammatory-syndrome-type-2


Primary sclerosing cholangitis

Primary sclerosing cholangitis is a disease that affects the bile ducts. Primary sclerosing cholangitis occurs due to inflammation in the bile ducts, which leads to scarring and narrowing of the ducts. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects both men and women twice as often as women. Extreme exhaustion, pain in the abdomen, and severe itchiness are all typical signs and symptoms of primary sclerosing cholangitis, as shown by the signs and symptoms. As the disease progresses, patients may experience yellowing of the skin and whites of the eyes, as well as an enlarged spleen. Eventually, the accumulation of bile damage the liver cells, leading to chronic liver disease and liver failure. Vitamin D, a fat-soluble vitamin that helps absorb calcium and helps bones harden, and a lack of this vitamin may lead to bone thinning in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition, inflammation of the intestines that causes open sores in the intestines and abdominal pain, and it is often linked to inflammatory bowel disease, which is often characterized by inflammation of the intestines that causes open sores in the intestines and abdominal pain. Around 70% of people with primary sclerosing cholangitis have inflammatory bowel disease, the most common condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease than those without the condition. People with primary sclerosing cholangitis are also at a risk of developing cancer, particularly cancer of the bile ducts.

Source link: https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis


Hirschsprung disease

Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in certain regions of the intestine. The muscle contractions that move stool through the intestine are triggered by enteric nerves. In people with Hirschsprung disease, the bacteria cannot be pushed through, causing severe constipation or complete blockage of the intestine. Nerve cells are missing from the majority of the large intestine and is the more severe condition. Long-segment disease is present in approximately 20% of people with Hirschsprung disease, affecting both men and women equally. Nerve cells are missing from the entire large intestine and occasionally a portion of the small intestine or some portion of the large and small intestine. Hirschsprung disease can also occur without other conditions, and these conditions are often described as local or nonsyndromic.

Source link: https://medlineplus.gov/genetics/condition/hirschsprung-disease

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions