Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic…
Hepatolenticular degeneration, more commonly known as Wilson's disease, is a genetic disorder characterized by the accumulation of copper due to mutations of ceruloplasmin, which is involved in its transport and excretion. Hepatic, neurologic and psychiatric symptoms may be encountered. The diagnosis is made by…
Alveolar hydatid disease (AHD), also known as alveolar echinococcosis, alveolar colloid of the liver, alveolococcosis, multilocular echinococcosis, and small fox tapeworm is a form of echinococcosis, and is a disease that originates from a parasite. Although alveolar echinococcosis is rarely diagnosed in humans and is not…
Aplastic anemia is a form of anemia due to failure in bone marrow production of leukocytes, erythrocytes and platelets, resulting in peripheral blood pancytopenia.
Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in…
Acute fatty liver of pregnancy is uncommon, but a possibly life-threatening disorder of pregnancy that primarily develops in the third trimester. Jaundice, fever, abdominal pain, anorexia, and nausea are some of the main complaints, whereas liver failure and coagulopathy can lead to both maternal and fetal death in…
Primary sclerosing cholangitis (PSC) is a chronic, progressive, cholestatic liver disease characterized by fibrosis and inflammation of intra- and extrahepatic biliary ducts. The course of the disease varies from person to person, and may lead to liver cirrhosis and associated complications.
The course of the disease…
Weil's disease is a severe and potentially life-threatening zoonotic infection caused by Leptospira, a spirochetal bacterial pathogen. Fever, constitutional symptoms, gastrointestinal irritation and muscle ache progressing to hepatorenal failure, pulmonary dysfunction, and involvement of other organs is the typical…
Hepatic veno-occlusive disease is a life-threatening condition in which toxic substances (either chemotherapeutic drugs or pyrrolizidine alkaloids found in various herbal remedies) cause severe damage to the endothelial cells of sinusoidal vessels in the liver, resulting in massive fibrosis and blood flow obstruction.…
Graft-versus-host disease (GVHD) is a common complication following an allogeneic transplant.
Symptoms of acute graft-versus-host-disease are primarily the result of damage to the liver, skin and the gastrointestinal tract. The disorder may also target the hematopoietic system, bone marrow, and the lungs. Chronic…