Condition Lookup
Sub-Category:
Metabolic and Genetic Liver Disorders
Number of Conditions: 2
Alpha-1 Antitrypsin Deficiency
Specialty: Gastrointestinal
Category: Liver Disorders
Sub-category: Metabolic and Genetic Liver Disorders
Symptoms:
fatigue; jaundice; unexplained liver dysfunction; dyspnea; recurrent respiratory infections; unintentional weight loss
Root Cause:
Mutation in the SERPINA1 gene leading to misfolded alpha-1 antitrypsin protein that accumulates in the liver and reduces its protective effect in the lungs.
How it's Diagnosed: videos
Blood tests to measure alpha-1 antitrypsin levels, genetic testing, liver biopsy, and pulmonary function tests.
Treatment:
Management of liver and lung symptoms; augmentation therapy for lung protection, and in severe cases, liver or lung transplantation.
Medications:
Alpha-1 proteinase inhibitors (e.g., Prolastin , Zemaira , Glassia ) for lung protection. There are no direct medications for the liver dysfunction, though supportive therapies are used.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 2,500 to 1 in 5,000 individuals of European descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, smoking (worsens lung symptoms), exposure to lung irritants.
Prognosis:
The expected outcome or course of the condition over time.
Variable; lung and liver disease can progress if untreated. Augmentation therapy and avoiding lung irritants can improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver cirrhosis, hepatocellular carcinoma, chronic obstructive pulmonary disease (COPD), emphysema, and respiratory failure.
Hemochromatosis
Specialty: Gastrointestinal
Category: Liver Disorders
Sub-category: Metabolic and Genetic Liver Disorders
Symptoms:
fatigue; joint pain; abdominal pain; bronze or gray skin discoloration; weakness; diabetes; irregular heartbeat; liver dysfunction
Root Cause:
Excessive iron absorption and accumulation in tissues due to a genetic mutation, typically in the HFE gene.
How it's Diagnosed: videos
Blood tests (serum ferritin, transferrin saturation), genetic testing, liver biopsy, MRI for iron quantification.
Treatment:
Regular therapeutic phlebotomy to remove excess iron, iron chelation therapy in cases where phlebotomy is not possible.
Medications:
Iron chelators such as deferoxamine , deferiprone , and deferasirox ; these are used to bind excess iron and promote its excretion in severe cases or when phlebotomy is not feasible.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 200-500 individuals of Northern European descent; more common in men than women.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, genetic mutations (e.g., HFE C282Y and H63D mutations), being male (symptoms often manifest earlier in men).
Prognosis:
The expected outcome or course of the condition over time.
Good with early diagnosis and management; untreated, it can lead to serious complications like liver cirrhosis, heart disease, and diabetes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, heart failure, arthritis, hypothyroidism, and chronic fatigue.