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Caroli’s disease is a rare, inherited liver disorder. It causes cystic widening of the large bile ducts within the liver. How it affects the body The bile ducts become enlarged, which can impair bile flow and liver function. It may lead to bile stasis, infection, or formation of stones. Causes It is inherited and linked to abnormal embryonic development. Caroli’s disease is part of a group of fibrocystic liver disorders.

Alpha-1-Antitrypsin Deficiency (AATD) is an inherited genetic condition that can affect the lungs, liver, skin, and blood vessels. Not everyone with AATD develops symptoms, and even people in the same family may be affected differently. What causes AATD? AATD is caused by changes (variants) in the SERPINA1 gene, which normally tells the liver to produce alpha-1-antitrypsin (AAT). AAT protects the lungs from damage caused by enzymes released during inflammation. In AATD: The liver doesn’t produce enough AAT, or Produces abnormally shaped AAT that gets trapped in the liver instead of entering the bloodstream. How AATD affects the body Lungs Low AAT levels allow lung tissue to be damaged, leading to: Emphysema Chronic bronchitis COPD Bronchiectasis Smoking is the biggest risk factor and can cause lung disease to appear 10–15 years earlier. Liver Misfolded AAT protein can build up in the liver, causing: Fibrosis Cirrhosis Liver failure Increased risk of liver cancer Children may show liver symptoms, including prolonged jaundice. Skin (rare) Painful nodules or ulcers (panniculitis) Blood vessels (very rare) Vasculitis causing fever, fatigue, aches, and weight loss Symptoms Symptoms usually begin after age 30, but can occur earlier. Common symptoms include: Shortness of breath, wheezing Chronic cough with mucus Fatigue and poor exercise tolerance Jaundice Unexplained weight loss Swelling of abdomen or legs Genetics and risk AATD is autosomal dominant You inherit one gene from each parent Two abnormal variants = higher disease risk One abnormal variant = carrier (usually no symptoms) Highest-risk genotype: PIZZ Lowest risk: PIMM AATD affects people worldwide but is underdiagnosed, especially outside Northern European populations. Complications Early-onset COPD Liver cirrhosis and liver cancer Skin and vascular inflammation Is there a cure? There is no cure, but early diagnosis allows: Smoking avoidance Lung-protective therapies Monitoring and treatment of liver disease Improved quality of life and normal lifespan in many non-smokers When to consider testing Family history of AATD, COPD, emphysema, or liver disease Lung disease at a young age Unexplained liver disease in adults or children Prevention & management Never smoke or quit immediately Avoid air pollutants and fumes Regular lung and liver monitoring Genetic counseling for family planning Early recognition makes a major difference in long-term outcomes.

What Is Myelofibrosis? Myelofibrosis (MF) is a rare type of chronic blood cancer that originates in the bone marrow. In MF, healthy bone marrow tissue is gradually replaced by fibrous scar tissue, a process known as fibrosis. This scarring disrupts the bone marrow’s ability to produce normal blood cells, including red blood cells, white blood cells, and platelets. Myelofibrosis is usually a slow-growing disease, and many people live with it for years without noticeable symptoms. In some cases, however, MF progresses more rapidly and requires timely medical treatment. A hallmark feature of myelofibrosis is the overproduction of megakaryocytes — large bone marrow cells that normally produce platelets. In MF, these cells release excessive amounts of cytokines, proteins that promote inflammation. This chronic inflammation stimulates further scarring in the bone marrow, worsening blood cell production over time. Risk Factors for Myelofibrosis The exact cause of myelofibrosis is not fully understood. However, several factors are associated with an increased risk: Age: Most commonly diagnosed in people over 60 Environmental exposure: Ionizing radiation and petrochemicals such as benzene and toluene JAK2 mutation: Present in approximately 50–60% of MF patients; this mutation causes blood cells to grow and divide abnormally CALR mutation: Found in about 35% of people with MF Other genetic mutations may also play a role, although they are less common. Symptoms of Myelofibrosis Because MF often develops slowly, many patients experience no symptoms in the early stages. As the disease progresses and blood cell production becomes increasingly impaired, symptoms may include: Anemia, leading to fatigue, weakness, and shortness of breath Frequent infections Itching Pale skin Night sweats Fever Unexplained weight loss Abnormal bleeding or easy bruising Bone or joint pain Enlarged spleen (splenomegaly), causing discomfort or a feeling of fullness in the upper left abdomen Enlarged liver Dilated veins in the stomach or esophagus, which may rupture and bleed Portal hypertension, increased blood pressure in the vein connecting the spleen and liver Unexplained blood clots Extramedullary hematopoiesis, where blood-forming cells grow outside the bone marrow, potentially forming masses that compress organs or interfere with their function Types of Myelofibrosis Myelofibrosis is considered a rare form of chronic leukemia and is classified into two main types: Primary myelofibrosis: Occurs on its own, without a prior bone marrow disorder Secondary myelofibrosis: Develops as a complication of another bone marrow disease, such as polycythemia vera or essential thrombocythemia In approximately 12% of primary myelofibrosis cases, the disease can progress to acute myeloid leukemia (AML), a more aggressive and fast-growing cancer.