progressive familial intrahepatic cholestasis type 1
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
Also known as: Byler disease, FIC1 deficiency, PFIC1, cholestasis, progressive familial intrahepatic 1, cholestasis, progressive familial intrahepatic, type 1, Byler's disease, cholestasis, fatal intrahepatic, cholestasis, progressive familial intrahepatic, 1, progressive familial intrahepatic cholestasis, severe ATP8B1 deficiency.
Category: General
Symptoms associated with progressive familial intrahepatic cholestasis type 1
The following symptoms have been associated with progressive familial intrahepatic cholestasis type 1 in medical literature. Not everyone experiences the same symptoms.
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Epistaxis
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Intrahepatic cholestasis with episodic jaundice
Information about Intrahepatic cholestasis with episodic jaundice....
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Pruritus
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally incr...
Wheezing
A high-pitched whistling sound associated with labored breathing....
Tests used to investigate progressive familial intrahepatic cholestasis type 1
Healthcare providers may order these tests when evaluating progressive familial intrahepatic cholestasis type 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with progressive familial intrahepatic cholestasis type 1, which is why a clinical evaluation is important.
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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Frequently Asked Questions
What is progressive familial intrahepatic cholestasis type 1?
progressive familial intrahepatic cholestasis type 1 is a health condition described in medical literature. PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
What are the symptoms of progressive familial intrahepatic cholestasis type 1?
progressive familial intrahepatic cholestasis type 1 is associated with 7 symptoms in the medical literature we index, including Diarrhea, Epistaxis, Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Jaundice, Pruritus. Symptoms vary widely between individuals.
How is progressive familial intrahepatic cholestasis type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with progressive familial intrahepatic cholestasis type 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have progressive familial intrahepatic cholestasis type 1, please discuss your symptoms with a qualified healthcare provider.