"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder."
"The cardinal features of HANAC syndrome are helpfully described in the name of the condition:"
"In addition to the HANAC features, and similar to COL4A1 brain small-vessel disease, additional body systems may also be involved, including the eyes (bilateral retinal artery tortuosity, cataracts, retinal haemorrhages), extracranial vasculature (Raynaud phenomenon), and heart (arrhythmias) 1-3."
"HANAC syndrome is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen 1-3. Type IV collagen is an important component of basement membranes in many tissues, as demonstrated by the wide variety of body systems involved in this condition 1-3."
"MRI is the investigation of choice and demonstrates widespread confluent, bilateral, symmetric white matter hyperintensities on T2-weighted sequences, with relative sparing of subcortical U-fibres 1,2. There may be additional features less commonly seen, including dilated perivascular spaces and cerebral microhaemorrhages 2. Evidence of intracerebral macrohaemorrhage, ischaemic stroke, or porencephaly is generally not seen in HANAC syndrome 1,2."
"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder."
"In addition to the HANAC features, and similar to COL4A1 brain small-vessel disease, additional body systems may also be involved, including the eyes (bilateral retinal artery tortuosity, cataracts, retinal haemorrhages), extracranial vasculature (Raynaud phenomenon), and heart (arrhythmias) 1-3."
Expected headings
"CTA / MRA"
"In addition to the HANAC features, and similar to COL4A1 brain small-vessel disease, additional body systems may also be involved, including the eyes (bilateral retinal artery tortuosity, cataracts, retinal haemorrhages), extracranial vasculature (Raynaud phenomenon), and heart (arrhythmias) 1-3."