Margaret McMurdy presents a case study of a 31-year-old male, JQ, with a complex history including autoimmune lymphoproliferative syndrome (ALPS) and thrombocytopenia. JQ was admitted multiple times for pneumococcal pneumonia and complications including respiratory failure, gangrene, and fluctuating blood counts. He received rehabilitation at Mount Sinai focusing on mobility, self-care, and cognition. Barriers included memory deficits, fatigue, and complex medical needs. Hyperbaric oxygen treatment aimed to optimize tissue oxygenation and heal non-necrotic tissue in his limbs.

1. Autoimmune
Lymphoproliferative
Syndrome (ALPS): A
Case Study
Margaret McMurdy, OTS

2. Objectives
• Define autoimmune lymphoproliferative syndrome and
thrombocytopenia
• Understand current research surrounding ALPS
• Identify patient goals and outcomes throughout multiple stays
at MSRH
• Identify patient barriers to inpatient rehabilitation treatment
• Highlight the importance of team communication with
complex cases
• Identify the reasoning for, and effectiveness of, hyperbaric
treatment

3. Patient: JQ
• 31 y/o male
• Complex medical history
• 3 months old: diagnosed with ALPS with thrombocytopenia
• 9 years old: splenectomy
• 2012: pneumococcal meningitis
PTA:
• Independent with ADLS, IADLS, functional mobility/transfers
(no device)
• Living alone in apartment

4. What is ALPS?
• Inherited genetic disorder in which the body can’t regulate the
number of WBC (lymphocytes)
• Results in the body producing an abnormally large amount of
lymphocytes (Lymphoproliferation)
• Increased lymphocytes = enlargement of lymph nodes, the
liver and the spleen
• Increases risk for developing lymphoma
• Most autoimmune disorders assoc. with ALPS target and
damage blood cells
• Platelets  autoimmune thrombocytopenia
• Red blood cells  autoimmune hemolytic anemia
• White blood cells  autoimmune neutropenia
(NIAID, 2015)

5. What is thrombocytopenia?
“thrombocytes” – platelets ; “penia” – lack of something
• Body attacks and destroys platelets
• Abnormally low amount of platelets
• Decreased platelet levels = blood cannot clot, and bleeding
from minor injuries cannot be stopped
• Leads to nose bleeds, gum bleeds, and bruises
(NLM, 2016)

6. ALPS Treatment
• Currently no cure for the genetic defect
• Focus on treating disease specific complications with
immunosuppression
• Initial therapy for cytopenias involves high dose corticosteroids +/-
intravenous immune globulin (IVIG)
• High dose pulse therapy with IV methylprednisolone, followed by
low dose oral prednisone, as therapeutic maintenance
(Li, 2015)

7. ALPS
• Very low incidence, exact prevalence is unknown
• Many remain undiagnosed and misdiagnosed
• 500 patients from 300 families investigated (2009)
• 1st characterized in the 1990s
• Median age of 24 months for first onset, can be detected as
early as 36 weeks gestation
• Historically considered primarily as an immune disorder
presenting in early childhood
• With increasing awareness and research, adult ALPS patients are
being diagnosed more frequently
(Li, 2015)

8. Emerging Research
NIH has recently published
revised criteria for the diagnosis
and classification of ALPS in
2009
(Shah, 2014)

9. Emerging Research
• Previously, splenectomy was performed in almost 50% of
patients with ALPS
• Research now shows this is a failed strategy, as it increases the
risk for pneumococcal sepsis
• Body is unable to sustain protective levels of antibodies against
pneumococcal polysaccharide antigens (without a specific
population of lymphocytes)
• Recommended now as a final choice
• Unless uncontrolled hypersplenism, failure of other medical
management, and life threatening cytopenia
• Partial splenectomy or splenic embolization
(Li, 2015)

10. Case Study: JQ
• Timeline of Recent Illness:
• Admitted to Danbury Hospital 12/29/15
• SFH: 1/14/16 – 1/21/16
• MSRH: 1/21/16 – 2/3/16
• SFH: 2/3/16 – 2/9/16
• MSRH: 2/9/16 – 2/16/16
• Discharged to uncle’s home on 2/16/16

11. Danbury Hospital
• 12/29/16 c/o abdominal pain, nausea, vomiting, diarrhea
• Admitted with pneumococcal pneumonia
• Presented with platelet count <10,000, limb cyanosis,
petechial rash on face
• 12/30/16 Acute respiratory failure; unresponsive, intubated
in the ICU
• Developed purpura fulminans and multiple emboli to fingers and feet
resulting in dry gangrene of fingers and toes
• 1/6/16  extubated

12. St. Francis Hospital
• Transferred to SFH (1/14/16) for likely need of amputation of
fingers
• Treated with antibiotics and local wound care
• Followed by podiatry
• X-rays of bilateral feet show soft tissue swelling without
evidence of underlying subcutaneous osteomyelitis; bones
intact
• Seen by plastics and vascular surgery; no surgical intervention
at this time
• Discharged 1/21/16 to MSRH

13. Mount Sinai Rehab
• Occupational Therapy Evaluation (1/22/16)
• Moderate Assist. with LB bathing & dressing
• Minimal Assist. with UB dressing
• Max. Assist with toileting
• Decreased UE strength, decreased gross/fine motor coordination,
decreased sensation in bilateral hands/fingertips, numbness in
bilateral hands/toes,
• Increased time to complete ADLs; required max. verbal cues for
task initiation/ sequencing secondary to cognitive deficits
• Appeared depressed
• Flat affect, comments regarding euthanizations
• LTGs set for supervision

14. Mount Sinai Rehab
• Physical Therapy Evaluation (1/22/16)
• Decreased functional mobility, bed mobility, strength, endurance,
ambulation, standing balance, safety judgment, cognition, and
sensation in LE
• Bed mobility: minimal assistance
• Transfers: contact guard with rolling walker
• Ambulation: min. assist with gait; ambulated 1 ft. with rolling
walker (felt weak, nauseous, and asked to sit)
• UE/LE Weight Bearing Status: as tolerated (SPTxfers only)
• Affected transfers throughout rehab stay

15. Mount Sinai Rehab
• Speech Evaluation (1/23/16) *OT/PT CONSULT*
• Moderate impairments of complex attention, mental
manipulation, and multi-step problem solving requiring mental
manipulation
• Severely impaired short term memory
• Oriented to name of hospital and month only
• Decreased awareness of deficits
• Introduced memory book to be used by all disciplines and visitors

16. Mount Sinai Rehab
Summary of 1st Stay:
• 15 hours/ 7 days (OT, PT, SLP)
• HBO treatment daily Mon-Fri
• Weight bearing was limited during stay (limited therapies)
• WBAT on LEs (patient with fluctuating pain through LEs); WB
through palms only in UE
• Slide board/ squat pivot transfers
• MRI (1/28/16): abnormal; elements of hydrocephalus within
the temporal lobe
• Neurosurgeon recommended patient be seen by neurologist
• Significant fatigue and required max. verbal cueing for task
initiation/problem solving/sequencing with ADLs, orientation;
increased time to complete

17. Mount Sinai Rehab
2/3/16 Functional Status: Day patient was sent back to SFH
• Transfer: CG with slide board
• Toileting: min. A
• LB dressing: mod. A
• UB dressing: min. A
• Min. to mod. cueing to reference visual aids such as the white
board and memory log, for orientation and scheduling info
• DME ordered in preparation for DC
• OT training was completed with patients mother including
functional transfers and ADL education/ hands on training
• Original discharge 2/4

18. Mount Sinai Rehab
2/3/16 Medical Status:
• Anemia (Hemoglobin at 8.7)
• White blood cell and platelet count fluctuated throughout stay
(WBC: 23.2/ Platelet: 7)
• Transferred back to SFH due to thrombocytopenia and
leukocytosis
https://www.lls.org/managing-your-cancer/lab-and-imaging-tests/understanding-blood-counts

19. SFH: 2/3 – 2/9
Admitted to SFH on 2/3:
• SIRS (Systemic Inflammatory Response Syndrome)
• Elevated WBC count and tachycardia in 110s
• Thrombocytopenia
• Hydrocephalus
• Dry gangrene of all digits
• Normocytic anemia
• Leukocytosis
• Sinus tachycardia
• Cognitive disorder

20. SFH
• ALPS & Thrombocytopenia
• IVIG and high does steroids; after 5 day course platelet count
came to 465,000
• Recommend consult with his hematologist for maintenance
therapy if platelet count continue to be an issue
• Hydrocephalus
• Lumbar puncture performed on 2/9/16
• CSF studies not consistent with infection; did not need immediate
medical attention
• SIRS
• No clear source of infection or significant inflammation was found
• Gangrene of Peripheral Extremities
• Attempted to receive records from Danbury; never received
• Unknown exact cause
• Medically optimize prior to surgical removal

21. MSRH Readmission
2/9 – 2/16
Occupational Therapy
• Distant supervision with transfers/mobility
• Verbal cues for safety
• Supervision with ADLs
• LB Dressing  minimal assistance
• Don/doff socks, Darco shoes, safety, verbal cues
• DME previously ordered from initial stay
• Improved affect, motivation
Adequate for Discharge
• “Majority of LTGs met. Recommending 24/7 supervision at
home initially which mother will provide. Patient requires cues
and direction during ADLs, and with problem solving”

22. MSRH: 2/9 – 2/16
Physical Therapy
• Bilateral LE – WBAT
• Able to ambulate 75’ with rolling walker
• Darco shoes for ambulation, with additional padding applied
at bilateral heels
• Severe sensation deficits in B LE
• Independent with bed mobility
Adequate for Discharge:
• Supervision with transfers (including car)
• Due to decreased STM

23. MSRH 2/9 – 2/16
Speech Therapy
• Mild impairments of complex attention, mental manipulation,
and problem solving
• Increased overall orientation and awareness of hospital course
• STM remains moderately to severely impaired
• Improved affect, initiation, speed of processing for complex
attention, mental manipulation and problem solving
• Mild deficits persist

24. Barriers to Therapy
• Cognitive deficits
• Short term memory deficits
• Limited therapeutic carry over
• Verbal cueing for orientation
• Flat affect, depressive state, fatigue
• Increased verbal cueing for initiation
• Increased time to complete tasks
• Therapy schedule
• 15 hours/7 days, HBO treatments
• Communication between disciplines, hospitals
• Difficulty obtaining past medical records
• Discrepancy in chart  confusion

25. Hyperbaric Treatment
Katie Moriarty, RN, CHT
Patient Goals:
• Limb salvage, save as much foot length as possible
• Optimizing O2 to tissues
• Heal tissue that is not yet necrotic

26. References
Li, P., Huang, P., Yang, Y., Hao, M., Peng, H., & Li, F. (2016). Updated understanding of autoimmune
lymphoproliferative syndrome (ALPS). Clinical Reviews in Allergy & Immunolog, 50, 55-63.
doi: 10.1007/s12016-015-8466-y
Shah, S. Wu, E. Rao, V.K. (2014). Autoimmune lymphoproliferative syndrome: an update and review of
the literature. Current Allergy and Asthma Reports, 14 (9), 1-10. doi: 10.1007/ s11882-014-0462-
4
Understanding Blood Counts. Leukemia & Lymphoma Society. Retrieved from: https://www.lls.org/
managing-your-cancer/lab-and-imaging-tests/understanding-blood-counts
Autoimmune Lymphoproliferative Syndrome (ALPS). (2015). National Institute of Allergy and Infectious
Diseases. Retrieved from: https://www.niaid.nih.gov/topics/alps/Pages/whatIsALPS.aspx
Thrombocytopenia. (2016). Medline Plus, U.S. National Library of Medicine. Retrieved from: https://
www.nlm.nih.gov/medlineplus/ency/article/000586.htm
Autoimmune Lymphoproliferative Syndrome. (2014) U.S. National Library of Medicine. Retrieved from:
https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome