Addison’s disease in antiphospholipid syndrome: a rare complication

Summary Addison’s disease (AD) is the most common endocrine manifestation of antiphospholipid syndrome (APS), but it remains a very rare complication of the syndrome. It is caused by adrenal venous thrombosis and consequent hemorrhagic infarction or by spontaneous (without thrombosis) adrenal hemorrhage, usually occurring after surgery or anticoagulant therapy. We present a clinical case of a 36-year-old female patient with a previous diagnosis of APS. She presented with multiple thrombotic events, including spontaneous abortions. During evaluation by the third episode of abortion, a CT imaging revealed an adrenal hematoma, but the patient was discharged without further investigation. A few weeks later, she presented in the emergency department with manifestations suggestive of adrenal insufficiency. Based on that assumption, she started therapy with glucocorticoids, with significant clinical improvement. After stabilization, additional investigation confirmed AD and excluded other etiologies; she also started mineralocorticoid replacement. This case illustrates a rare complication of APS that, if misdiagnosed, may be life threatening. A high index of suspicion is necessary for its diagnosis, and prompt treatment is crucial to reduce the morbidity and mortality potentially associated. Learning points: AD is a rare but life-threatening complication of APS. It is important to look for AD in patients with APS and a suggestive clinical scenario. APS must be excluded in patients with primary adrenal insufficiency and adrenal imaging revealing thrombosis/hemorrhage. Glucocorticoid therapy should be promptly initiated when AD is suspected. Mineralocorticoid replacement must be started when there is confirmed aldosterone deficiency. Hypertension is a common feature of APS; in patients with APS and AD, replacement therapy with glucocorticoids and mineralocorticoids may jeopardize hypertension management.

Download Full-text

GAD antibody-associated limbic encephalitis in a young woman with APECED

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-17-0010 ◽

2017 ◽

Vol 2017 ◽

Cited By ~ 1

Author(s):

Anna Kopczak ◽

Adrian-Minh Schumacher ◽

Sandra Nischwitz ◽

Tania Kümpfel ◽

Günter K Stalla ◽

...

Keyword(s):

Adrenal Insufficiency ◽

Limbic Encephalitis ◽

Immunosuppressive Treatment ◽

Addison’S Disease ◽

Epileptic Seizures ◽

Oligoclonal Bands ◽

Addison's Disease ◽

List Type ◽

Gad Antibodies ◽

Aire Gene

Summary The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3–4 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED. Learning points: Episodic nausea cannot only be a sign of Addison’s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis. GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time. Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.

Download Full-text

Challenging Diagnosis of Addison’s Disease Presenting with Adrenal Crisis

Case Reports in Endocrinology ◽

10.1155/2021/7137950 ◽

2021 ◽

Vol 2021 ◽

pp. 1-6

Author(s):

Ni Wayan Wina Dharmesti ◽

Made Ratna Saraswati ◽

Ketut Suastika ◽

Wira Gotera ◽

I Made Pande Dwipayana

Keyword(s):

Adrenal Insufficiency ◽

Adrenal Cortex ◽

Addison’S Disease ◽

Adrenal Crisis ◽

Addison's Disease ◽

Rapid Progression ◽

Circulatory Collapse ◽

Emergency Ward ◽

Primary Adrenal Insufficiency ◽

Life Threatening

Primary adrenal insufficiency, also known as Addison’s disease, is a rare but potentially fatal condition resulting from the failure of the adrenal cortex to produce glucocorticoid and/or mineralocorticoid hormones. Unfortunately, the clinical manifestation of primary adrenal insufficiency is not specific and often progresses insidiously, resulting in late diagnosis, or in severe cases, life-threatening circulatory collapse. Adrenal insufficiency should be considered in patients with unexplained vascular collapse. We report the case of a woman who presented to the emergency ward with unexplainable shock that was later diagnosed as adrenal crisis due to Addison’s disease. The presence of hyperpigmentation in patients with rapid progression of adrenal insufficiency suggests the diagnosis of Addison’s disease presenting with adrenal crisis.

Download Full-text

Reccurent episodes of vomiting and hyperpigmentation---Addison,s disease, a case report

TAJ Journal of Teachers Association ◽

10.3329/taj.v29i2.39111 ◽

2018 ◽

Vol 29 (2) ◽

pp. 66-69

Author(s):

MB Uddin ◽

F Zaman ◽

KI Jahan ◽

MH Tarafder ◽

A Hossain ◽

...

Keyword(s):

Case Report ◽

Adrenal Insufficiency ◽

Acute Stress ◽

Addison’S Disease ◽

High Index ◽

Recurrent Episode ◽

Addison's Disease ◽

Acute Adrenal Insufficiency ◽

High Index Of Suspicion ◽

Specific Symptoms

Addison’s disease can remain unrecognized for a longtime until acute adrenal insufficiency is precipitated by an acute stress. Addison’s disease usually presents with non-specific symptoms like fatigue, nausea, vomiting, hyperpigmentation and generalized weakness. These symptoms are most often ignored or misinterpreted with other more common diseases. This is the major reason that this disease is under-diagnosed. Therefore, to establish a diagnosis high index of suspicion is needed.We are reporting a case of 10 years old boy who presented with recurrent episode of severe vomiting and generalized weakness. This kind of presentation of Addison’s disease is rather unusual and mainstay of diagnosis is clinical based.TAJ 2016; 29(2): 66-69

Download Full-text

Addison's disease in antiphospholipid syndrome: A rare complication

Clinical Case Reports ◽

10.1002/ccr3.4107 ◽

2021 ◽

Vol 9 (5) ◽

Author(s):

Farzaneh Yazdi ◽

Mohammad Reza Shakibi ◽

Hanieh Mirkamali ◽

Amir Baniasad

Keyword(s):

Antiphospholipid Syndrome ◽

Rare Complication ◽

Addison’S Disease ◽

Addison's Disease

Download Full-text

Cognitive function in patients with primary adrenal insufficiency (Addison's disease)

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-0035-1547626 ◽

2015 ◽

Vol 122 (03) ◽

Author(s):

K Schultebraucks ◽

K Wingenfeld ◽

M Quinkler ◽

C Otte

Keyword(s):

Cognitive Function ◽

Adrenal Insufficiency ◽

Addison’S Disease ◽

Addison's Disease ◽

Primary Adrenal Insufficiency

Download Full-text

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽

10.1177/27325016211005062 ◽

2021 ◽

pp. 273250162110050

Author(s):

Samuel Ruiz ◽

Rizal Lim

Keyword(s):

Pediatric Population ◽

Rare Complication ◽

Disease Process ◽

Rare Condition ◽

External Drainage ◽

Direct Extension ◽

Life Threatening ◽

History Of ◽

High Index Of Suspicion ◽

Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

Download Full-text

A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

Global Pediatric Health ◽

10.1177/2333794x19845074 ◽

2019 ◽

Vol 6 ◽

pp. 2333794X1984507 ◽

Cited By ~ 2

Author(s):

Ryan Kenneth Smith ◽

Peter M. Gerrits

Keyword(s):

Adrenal Insufficiency ◽

Autoimmune Polyglandular Syndrome ◽

Threatening Condition ◽

Viral Illness ◽

Persistent Fatigue ◽

Life Threatening ◽

Local Emergency Department ◽

Autoimmune Polyglandular Syndrome Type ◽

High Index Of Suspicion

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison’s and Hashimoto’s diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

Download Full-text