Although the primary causes of FH are mutations in the LDLR gene (representing 60%80% of FH patients), mutations in the apolipoprotein B (APOB) gene that cause familial ligand-defective apoB (often referred to as familial hypercholesterolemia type 2) and gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene are also associated with autosomal dominant forms of familial hypercholesterolemia

Seek immediate medical attention (call 999 or go to A&E) if you experience: Signs of a severe allergic reaction such as swelling of the face, lips, tongue or throat, difficulty breathing, or severe widespread rash Blood in stools or vomit , which may indicate gastrointestinal bleeding requiring urgent assessment Contact your GP urgently if you experience: Severe or persistent abdominal pain that does not resolve within a few days or worsens over time Persistent vomiting that prevents you from keeping down food, fluids, or medications Severe diarrhoea lasting more than 48 hours, particularly if accompanied by dehydration signs (reduced urination, dizziness, dry mouth) New or worsening symptoms after starting B12 supplementation that significantly impact daily activities or quality of life Routine review is appropriate when: Mild symptoms persist beyond three weeks despite adjusting timing, dose, or formulation You are uncertain whether symptoms relate to B12 supplementation or another condition You have pre-existing gastrointestinal conditions (such as Crohn's disease, coeliac disease, or gastritis) and experience new digestive symptoms You require guidance on alternative supplementation routes, particularly if oral preparations consistently cause discomfort It is important to remember that many gastrointestinal symptoms have multiple potential causes

Regular movement can help your intestines contract and move stool through your colon more efficiently
What are the common symptoms of Vitamin B-12 deficiency
Presented for research literature review only Alivand MS et al
K.KabanovA