Facial Flushing As a Presentation of Cerebral Amyloid Angiopathy: An Overlooked Cause of Spells
Presentation Number: SUN 296
Date of Presentation: April 2nd, 2017
Hadoun Jabri*1, Shailesh Baral2, Chaitanya Kumar Mamillapalli3 and Carmel Maria Fratianni2
1SIU School of Medicine, Springfield, IL, 2Southern Illinois University School of Medicine, Springfield, IL, 3Springfield Clinic, Springfield, IL
67 yo male with hypogonadotropic hypogonadism, bladder cancer, hypertension, tinnitus, & hyperlipidemia presented with spells described as stereotypic facial flushing “like a burning furnace” x 4 yrs duration. Premonitory symptoms (sx) included a tingling sensation in the tongue & burning in the ears. While sx were initially attributed to BCG treatment for bladder cancer, these sx continued after therapy discontinuation. Subsequently sx were ascribed to hypogonadism, but did not respond to therapeutic androgen replacement. Sx were progressive & debilitating, occurring multiple times weekly, lasting from a few minutes up to 17 hrs duration & followed by a period of extreme fatigue.
At presentation with his stereotypic sx there was no associated pallor, diaphoresis, presyncope, headache, palpitations, visual changes, numbness, or change in baseline tinnitus.Both blood pressure & blood sugar monitored during these episodes remained entirely normal.
No gustatory sweating, h/o parotid gland trauma, cognitive impairment, or CNS trauma reported.
The following labs obtained immediately post episodes were entirely Normal:
24 hr urine Metanephrines, Normetanephrine, dopamine & 5 HIAA; Plasma metanephrines, VIP, TSH, ACE level, Calcitonin, PSA, CBC, Liver function tests, & serum tryptase. Abdominal CT scan was normal.
Head and neck MRI was obtained specifically to exclude CNS tumor or bleed, glomus jugulare tumor, other paraganglioma, or Frey’s syndrome & to evaluate for cause of hypogonadotropic hypogonadism.
MRI suggested >40 areas of small petechial hemorrhage without lobar CVA, sparing typical regions of hypertensive hemorrhage. Pattern was suggestive of probable cerebral amyloid angiopathy (CAA). Cerebral aneurysm, significant stenosis, fibromuscular dysplasia or hereditary cavernous angiomas were excluded by CT Angiogram.
The absence of vascular ischemic stenosis is a critical diagnostic point, as misdiagnosis as TIA and inappropriate anticoagulant administration must be avoided in CAA. Anticoagulation will increase the risk of lobar hemorrhagic stroke in CAA & should be avoided. To date, our patient is well, without cognitive impairment or stroke.
Endocrinologists commonly see referrals for flushing and should be aware that the neurological sx associated with CAA may include facial flushing. While small subclinical hemorrhages in CAA are common, small areas of hemorrhage may be associated with headache, seizure or focal neurological deficits as in this case. CAA more often manifests as spontaneous cerebral lobar bleeding in subcortical white matter.
In one series, neurologic sx predicted a high risk of subsequent intracerebral hemorrhage, occurring in 50% of patients over 14 mo f/u period (Charidimou A et al, 2012).
Whether the neurological sx in our patient represent seizures will be further evaluated by EEG and if positive, a trial of anti-epileptic medication pursued.
Nothing to Disclose: HJ, SB, CKM, CMF