Munchausen’s Syndrome With Rare Hematological Disorder, Systemic Mastocytosis: A Case Report
To the Editor: Munchausen’s syndrome is classified as a factitious disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). It is characterized by the intentional production or feigning of physical or psychological signs or symptoms, with a psychological need to assume the sick role.1 In 1951, Asher named this disorder “Munchausen’s syndrome” and proposed three common variants: presents with acute abdominal pain, with neurologic symptoms, and with self-inflicted blood loss.2 Since then, several case reports have been published describing Munchausen’s syndrome with all other systemic organs.3–5 Systemic mastocytosis (SM) is a persistent or progressive clonal disorder of mast cells and their progenitors.6
Here, we report a case of a 26-year-old pharmacy technician who presented with multiple suicide attempts and a self-reported diagnosed case of the rare hematological condition, SM. Presenting an inconsistent history, liaison with other specialties, and an extensive treatment chart review, she was diagnosed with factitious disorder.
Case Report
This 26-year-old female pharmacy technician was transferred to the psychiatry floor for recent suicide attempts with overdose. Her self-reported history was inconsistent and incomplete. She reported that she was recently given a grave prognosis of her medical condition, SM, by her hemato-oncologist. She was convinced that, even with treatment, she would hardly survive more than 1−2 years. Her depression got worse after knowing about this terminal illness. She began to have suicidal ideations. On the psychiatry floor, she was very demanding and refused to take any antidepressants. The patient was very dramatic and manipulative on the floor and was very defensive about her past medical history. Further inquiries gave evidence of a disturbed personality, chaotic childhood environment, history of physical and sexual abuse, severe family conflicts during growing years, relationship issues, and self-injurious behavior.
We reviewed all of her previous medical records and contacted her primary-care provider (PCP). We learned about multiple hospitalizations, including numerous emergency department (ED) visits, with multiple physical complains, from 2003 to 2010, and extensive work-up was done, procedures of which are listed in Table 1. Each time, when in the ED, she self-reported various past medical diagnoses, which were listed in her medical records without any confirmation of reported diagnosis. Extensive work-up was done without having any positive results. She has gone through various surgical procedures. She reported having multiple allergies without mentioning about specific reactions. Some of her symptoms could be explained on the basis of her medications, such as QTc prolongation and hyperprolactinemia with antipsychotics, and hyperglycemia and osteoporosis with chronic steroidal use.
Presenting Symptoms/Self-Reported Past Medical History | Work-Up Done in ER/Medical Floor | Positive Findings | Discharge Diagnosis |
---|---|---|---|
Cardiovascular | |||
Syncope | Troponin | QT prolongation in 2 out of 16 EKGs (on antipsychotic) | DVT |
MVP | EKG | DVT in upper limb | |
Long QT syndrome | Echo cardiogram | ||
Right-sided chest pain, palpitations | Chest X-ray | ||
Chest ultrasonography (USG) | |||
Hypertension | Chest CT | ||
Upper-extremity DVT | Holter monitor | ||
Pulmonary embolus | Venous duplex | ||
Clotted PICC line | V/Q scan | ||
Low protein C&S | Protein C & S, Factor V Leiden | ||
Endocrine | Osteoporosis: high dose of steroid | Secondary osteoporosis | |
Growth hormone deficiency, pituitary insufficiency, hypothyroidism | Cortisol | ||
Diabetes mellitus | Hormonal assays | Hyperprolactinemia (on antipsychotics) | |
Hyperprolactinemia | Osteomark | Hyperglycemia (on steroid) | |
Osteoporosis | Alkaline phos | ||
Blood glucose/Hb1c | |||
TSH/Free T4 | |||
Vit. D total/ D2/D3 | |||
Bone densitometry | |||
Neurological | |||
Syncope | Head CT | ||
Migraine | Head MRI | ||
Pituitary adenoma | Sinus CT | ||
Infectious | |||
Cellulitis | MRSA screening | Bone infection | Osteomyelitis |
Urinary tract infection | Chlamydia/ GC | Biopsy and scans | Septic arthritis |
Ankle abscess | Monospot | ||
Septic arthritis | Lyme antibody | ||
Osteomyelitis (OM) | Synovial fluid analysis | ||
Lymphangitis | Bone biopsy | ||
MRSA infection | WBC indium scan | ||
Myositis, dermatitis, | Pap smear | ||
Pseudomonal bacteremia | Upper- and lower-limb X-ray | ||
C spine/ L-spine/T-spine | |||
Culture: blood, urine, fungus, wound, anaerobes, bone, fluid, tissue, Acid Fast Bacteria (AFB) | |||
Gastrointestinal | |||
Abdominal pain | Liver-function test | ||
Jaundice | Fecal occult blood test | ||
PUD, GI bleed | 24-hour pH probe study | ||
Gastroenteritis | Gastric biopsy | ||
GERD | Abdominal and pelvic USG | ||
Rectal bleeding, | Abdominal and pelvic CT | ||
Cyclic vomiting | Gastric emptying test | ||
Allergy | |||
chronic angioedema | Allergy skin test | Asthma | |
Rhinitis | ANA ab | ||
Reactive airway disease | C4 | ||
Hives, urticaria, asthma | IgA | ||
Idiopathic anaphylaxis | Endomys IgA | ||
Psychiatry | |||
Depression, | Urine Tox | Eating disorder | |
anorexia and or bulimia, | Head CT | Depressive disorder | |
Adjustment reaction | Self-mutilation behavior | ||
Bipolar type 2 | Borderline PD | ||
Self-mutilation behavior | |||
Borderline PD | |||
Insomnia | |||
Posttraumatic stress disorder | |||
Generalized anxiety disorder | |||
Attention-deficient hyperkinetic disorder | |||
Musculo-Skeletal | |||
Osteoporosis | Culture: blood, fungus, wound, anaerobes, bone, fluid, tissue, AFB | Fractures bones on X-ray | |
Osteomyelitis | Lyme antibody | ||
Septic arthritis | Synovial fluid analysis | ||
Left posterior tibial tendonitis | Upper- and lower-limb X-ray | ||
Fractures of tibia and fibula | Joint X-ray/ MRI | ||
Groin-area stress fractures, costochondritis | L-spine/T-spine | ||
Back pain | Bone densitometry | ||
Recalcitrant left elbow | |||
Forearm lacerations | |||
Genitourinary | |||
Renal stone | UA | ||
Oligomenorrhea | Abdominal and pelvic USG | ||
Dysmenorrhea | Abdominal and pelvic CT | ||
Squamous metaplasia | PAP smear/cervical biopsy | ||
Respiratory | |||
Asthma | Chest X-ray/USG/CT | ||
Pneumonia | Polysomnography | Asthma | |
Pleural effusion | |||
Pneumothorax | |||
Sleep apnea | |||
Hemato-oncology | |||
Systemic mastocytosis | CBC, PBF | ||
Blood smear |
She reported to her primary-care provider her diagnosis of SM, which she said had been diagnosed at a reputed cancer center in 2005. She did not provide any documents about her diagnosis and did not sign a medical release form to get her records. She requested not to do any further testing for SM to monitor her condition and said she would like to keep being followed at the cancer center by visiting there. She requested continuing her steroid and antihistamine treatment. Her blood tests, such as CBC and peripheral blood films, never showed any abnormal immature cells. Whenever she was questioned about the validity of the diagnosis of SM, she changed her PCP. She was going to various ERs in the area and had changed her PCP 4 times in the last 6 years.
After liaison with PCP and other care-providers, when we further inquired about the SM diagnosis and all normal results in last 6 years, initially she was very annoyed and refused to talk. After explaining to her about the necessity of medical history in organizing her care, she signed a medical release to contact the cancer center. After a few hours, she requested rescinding of the medical release, stating she is on some experimental medications for this rare disorder, and, if they knew her psychiatric history, they would not continue her on this experimental medication trial. Meanwhile, we had already faxed that release form to the cancer center and received a medical record from there. She was only seen there once, in the ER, for some atypical chest pain, and was diagnosed with muscular chest pain. She was never seen by any hemato-oncologist and was never diagnosed with SM. We recommended her for intensive psychotherapy for her psychological issues, but she left the hospital the same evening, after signing out against medical advice. She never came back to our center after this admission, and she changed her PCP.
Discussion
Munchausen’s syndrome, as this report demonstrates, is a chronic factitious disorder characterized by an elaborately contrived case history, evidence of multiple procedures, desire for multiple hospitalizations, and assuming the sick role. As a practicing pharmacy technician, she had medical knowledge and was well aware of medical terminology. The history of childhood abuse, family conflicts, and relationship issues were contributing to her disturbed personality. In her case, the self-reported diagnosis was never confirmed and was in her records for years, which had led to multiple hospitalizations, ED visits, extensive medical work-ups, and medical complications secondary to treatment.
Patients with factitious disorders can present with various kinds of physical as well as psychological symptoms, which depend on their medical knowledge background and their creativity in feigning symptoms. Numerous diagnostic tests and invasive procedures are performed in these patients without positive pathologic results. The diagnosis of factitious disorder is usually very difficult, and confirmatory evidence cannot be obtained in all cases.7
Women with medical backgrounds, especially nurses, are commonly involved.8 Many of these patients have underlying mental disturbances, such as low self-esteem, dependency needs, social isolation, and pathological lying, and have personality disorders.9 Elaborate, complex medical and surgical history; chaotic childhood experiences; relationship problems; medical or nursing background; refusal to sign medical releases; and having no visitors during hospitalization are few of the “red flags” suggesting the diagnosis of factitious disorder.3 There is a growing risk of “Munchausen’s-syndrome-through-internet, with rare but serious medical conditions like chronic myeloid leukemia.5,10
Unfortunately, prognosis of factitious disorder is grave; recovery is rare in Munchausen’s syndrome.5 Like our patient; mostly patients with factitious disorder drop out of treatment as soon they know that treating team has found out about feigning symptoms. It has been recommended that a registry of patients with Munchausen’s syndrome should be established.5 It will not only help in early identification, but also help to prevent more damage by repetitive interventions and invasive surgical procedures. These patients should be in long-term psychotherapy.
Self-reported diagnoses by patients are very common in clinical practice. It is not always possible for clinicians to verify all self-reported diagnoses and medications in a very busy clinical practice or during ER visits. This case illustrates the need for verification of self-reported past medical history, rather than relying on the patient’s report. Early detection of factitious disorder will allow proper referral to prevent further injuries to the patient and abuses of the medical system.
1
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