Case 68: Unknown Connective Tissue Disorder and Postural Tachycardia Syndrome

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

Fibrillin 1 ◽

The testing showed a typical postural tachycardia syndrome (POTS) pattern but was negative for small fiber neuropathy. Although the patient has marfanoid habitus, she tested negative for the fibrillin-1 gene mutation which underlies the Marfan syndrome; she is more likely for positive for Ehlers-Danlos syndrome.

Case 67: Ehlers-Danlos Syndrome with Postural Tachycardia Syndrome and Psychogenic Pseudosyncope

Autonomic Testing ◽

10.1093/med/9780190889227.003.0072 ◽

2019 ◽

pp. 349-352

Author(s):

Peter Novak

Keyword(s):

Blood Pressure ◽

Blood Flow ◽

Cerebral Blood Flow ◽

Small Fiber Neuropathy ◽

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

Small Fiber ◽

Patient became unresponsive during the first minute of the tilt; she was tachycardic but the blood pressure and cerebral blood flow were stable. Psychogenic pseudosyncope can be superimposed on postural tachycardia syndrome (POTS). Pseudosyncope, small fiber neuropathy, and POTS can be associated with hypermobile Ehlers-Danlos syndrome.

Case 14: Postural Tachycardia Syndrome with Hypermobile Ehlers-Danlos Syndrome

Autonomic Testing ◽

10.1093/med/9780190889227.003.0019 ◽

2019 ◽

pp. 111-114

Author(s):

Peter Novak

Keyword(s):

Small Fiber Neuropathy ◽

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

Small Fiber ◽

Postural tachycardia syndrome (POTS), syncope, and small fiber neuropathy is associated with hypermobile Ehlers-Danlos syndrome.

When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder

Lupus ◽

10.1177/0961203320988585 ◽

2021 ◽

pp. 096120332098858

Author(s):

Svetlana Blitshteyn

Keyword(s):

Clinical Features ◽

Orthostatic Intolerance ◽

Medical Condition ◽

Small Fiber Neuropathy ◽

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

Small Fiber ◽

Age Range ◽

Background Postural tachycardia syndrome (POTS) is a heterogenous disorder of the autonomic nervous system that is commonly associated with small fiber neuropathy, Ehlers-Danlos Syndrome and autoimmune disorders, but association with rare conditions may also occur. Methods Reported here are clinical features, diagnostic tests and treatment outcomes of 6 unique patients who presented with POTS and were subsequently diagnosed with Fabry disease, McArdle disease, Complex V mitochondrial disease, carcinoid tumor, Hodgkin’s lymphoma and chemotherapy-induced neuropathy. Results All patients (age range 15-57 years, 3 females, 3 males) presented with orthostatic intolerance of at least 6 months duration, and all patients had co-morbid small fiber neuropathy. Five patients presented with symptoms of POTS months to years before the underlying or associated medical condition was discovered, and three out of six patients experienced either complete resolution or significant improvement of POTS after treatment of the underlying or associated medical condition. Conclusion In rare cases, POTS can present as a possible manifestation of genetic, neoplastic or neurotoxic disorders. Unusual clinical features that fall outside of the typical spectrum of dysautonomia can point toward the presence of another disorder and help guide further diagnostic investigation.

S0481 Overlap in Gastrointestinal Manifestations Among Small Fiber Neuropathy, Postural Tachycardia Syndrome, Ehlers-Danlos Syndrome, and Mitochondrial Disease Adult Patients

The American Journal of Gastroenterology ◽

10.14309/01.ajg.0000703972.54904.cc ◽

2020 ◽

Vol 115 (1) ◽

pp. S240-S240

Author(s):

Fatima U. Rao ◽

Braden Kuo ◽

Kyle Staller

Keyword(s):

Mitochondrial Disease ◽

Small Fiber Neuropathy ◽

Adult Patients ◽

Ehlers Danlos Syndrome ◽

Gastrointestinal Manifestations ◽

Postural Tachycardia ◽

Small Fiber ◽

Case 65: Ehlers-Danlos Syndrome with Postural Tachycardia Syndrome, Presyncope, and Anxiety

Autonomic Testing ◽

10.1093/med/9780190889227.003.0070 ◽

2019 ◽

pp. 340-344

Author(s):

Peter Novak

Keyword(s):

Tilt Test ◽

Ehlers Danlos Syndrome ◽

Postural Tachycardia ◽

The tilt test showed a combination of anxiety, postural tachycardia syndrome (POTS), and presyncope. The POTS in this patient was mild, but anxiety may exacerbate symptoms.