People living with systemic mastocytosis (SM) can experience liver abnormalities due to mast cells infiltrating bone and internal organs, including the liver, spleen and lymph nodes.
When mast cells accumulate in the organs, it can lead to inflammation, tissue damage or organ failure. Minor liver complications can often be managed through lifestyle and diet changes and medication. If liver failure occurs, a transplant is the only cure.
What is the role of mast cells in SM?
SM is a chronic white blood cell disease that affects the mast cells, part of the body’s immune system. Mast cells are made in the bone marrow and release chemicals such as histamineHistamine A chemical released by mast cells when they are activated. Histamine causes many of the allergy-type symptoms in mastocytosis, including flushing, itching and hives., cytokines and growth factors into the bloodstream when they detect bacteria or allergens in the body.
These immune responses can trigger symptoms such as flushing of the face, skin itchiness, headaches, abdominal cramps, heart palpitations, joint pain, low blood pressure and potentially, anaphylaxisAnaphylaxis A severe allergic reaction that can turn fatal without treatment. Patients with SM are at a higher risk of developing anaphylaxis.. In SM, mast cells proliferate uncontrollably and release excessive amounts of histamine.
There is no cure for SM, and treatment focuses on avoiding symptom flare-ups through triggers such as changes in temperature, physical or emotional exertion, alcohol, certain foods and medication, insect bites or stress.
Learn more about SM treatment and care
Identifying liver complications
Complications of the liver associated with SM include swelling of the liver or hepatomegaly, portal hypertension and ascites, sclerosing cholangitis or Budd-Chiari syndrome.
In patients with unexplained liver problems, swelling of the liver or hepatomegaly may lead to an SM diagnosis. Signs of an enlarged liver include abdominal pain, fatigue, nausea, vomiting and jaundice.
Diagnosis of hepatomegaly involves several steps, starting with a physical exam, then a blood test to check liver enzymes, a CT, ultrasound or MRI and potentially a liver biopsy.
Organ damage, dysfunction and even failure more often occur in advanced SMAdvanced SM In these subtypes of SM, mast cells begin to damage organs. Advanced SM includes the subtypes aggressive SM, mast cell leukemia and SM with an associated hematological neoplasm., or in the more severe variants of the disease, such as aggressive SMAggressive SM A subtype of advanced SM marked by a high mast cell burden that leads to organ damage. Aggressive SM accounts for less than 10% of SM cases..
Managing liver complications with systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults.
Liver damage can be partially slowed through diet and lifestyle changes, and by effectively avoiding triggers to reduce the symptom burden of SM.
Medications such as corticosteroids and immunosuppressants are used in the treatment and management of liver complications. Of course, each patient’s treatment plan may look different, depending on their symptoms and the advice from their doctor.
