Naseem Akhtar is a 40-year old housewife presenting with multiple joint pain and morning stiffness for 3-4 years. She has developed deformities in her hands and difficulty performing tasks. Laboratory tests showed positive anti-SM and anti-RNP antibodies. She has features overlapping rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis, consistent with a diagnosis of mixed connective tissue disorder. Her joint involvement is most consistent with rheumatoid arthritis.

2. CASE PRESENTATION
DR MARIA NAZIR
PGT MEDICINE

3. BIODATA
• Name- Naseem Akhtar w/o AW Khalid saifullah
• Age - 40year
• Married for – 13year
• Education – Matriculation
• House wife by profession
• Residence – Jhawarian,Sargodha

4. PRESENTING COMPLAINT
• Multiple joint pain(progressive) – For 3-4 year
• Morning stiffness (small joints of hands) – Initially 10 min to now Upto 30min( for
3-4) year
• Deformed/ changing shape of small joints of hands

5. HISTORY OF PRESENT ILLNES
• My patient had no comorbids of medical importance including HTN/DM/IHD/HEP B
or C and Asthma previously. History goes back to 04 year,when patient was enjoying
good health,then gradually,she started developing muscle aches(generalized) and
stiffness in small joints of hands and deformed joints of hands(proximal
Interphalangeal joints ,MC joint and wrist joint more involve as compare to DIP joints
).Stiffness was more pronounced at morning,relieving after 15-30 min of
movement/working,aggravated in cold weather and after naps ,she started taking
taking pain killers and muscle relaxants initially,but it wasn’t helpful except for timely
relief. Muscle aches were generalized but There was more difficulty in standing from
sitting position and starting up some activity Or climbing stairs,and were associated
with muscle weakness. With time she also developed painful oral
ulcers(occasionally) which took longer time to heal and go away. She also gave
history of bluish discoloration of fingers of hands and feet(B/L), specifically during
winter season,followed by warm ,itchy,red painful fingers and toes.

6. CONT...
• Due to progressive deformity of hands,she was unable to perform household
chores Particularly in morning like opening bottles and buttoning the shirt etc
• She developed sensitivity to spices, epigastric burning and painful defecation. She
occasionaly had episodes of fecal incontinence.
• There was no history of fever,trauma,burning
micturition,dysuria,constipation,dryness of mouth and eyes etc

7. PAST HISTORY
• DRUG HISTORY:
• She was taking deltacortil,risek,Ibert folic for almost 04 year with infrequent
breaks
• TRANSFUSION HISTORY:
• She had received 01 pint RCC during 1st child birth
• HOSPITAL VISITS:
• She had multiple visits to hospital Previously regarding the current issue
(progressive Pain and stiffness)

8. CONT...
• OTHER :
• She had a seizure once,about 04 year ago during sleep followed by tongue
bite,LOC,urinary incontinence and post ictal weakness.she is on no epileptic
medication previously or currently.she had not experienced any fit like activity
after the 1st episode,but some times she does experience urinary incontinence
(urge).
• PAST SURGICAL HISTORY:
• C-section 2 times 10 and 12 years back

9. FAMILY HISTORY
• PARENTS:
• Mother is alive and healthy
• Father had history of CVA,parkinsonism,remained bed bound for 10 year and died
of sudden cardiopulmonary arrest.
• SIBLINGS:
• She had 04 brothers,all of them died in their childhood,owing to some sort of
muscular weakness and abnormalities (probably Duchene,no record available)

10. CONT...
• She have 02 sisters..both of them are alive and healthy
• Children: she has 2 daughters ( 10 yr old CP child, other is 12 yr old healthy,alive)
• PERSONAL HISTORY:
• No known history of any sort of addiction
• Normal appetite
• Normal sleep wake cycle
• No history of obvious weight gain or loss
• Bowel habits are altered( alternative diarrhea and constipation)

11. • ALLERGIC HISTORY: nil
• PET HISTORY: Pegions at home
• TRAVEL HISTORY: Nil
• SOCIOECONOMIC HISTORY:
• Husband is PAF empolyee,have their own home
• Socioeconomic status is satisfactory

12. SYSTEMIC HISTORY:
• MUSCULOSKELETAL:
• History of rash +
• History of nodules and ulcers on extensor surface of upper and lower
limbs(currently no nodules)
• Photosensitivity (slight) +
• Aphthous ulcers + (not currently)
• Pain and stiffness and deformed small joints of hands +
• Mild pain and movement restriction in largers joints eg knee joint ,shoulder and
hip joint

13. • CVS: Difficulty breathing+,No orthopnea,no chest pain,no SOB,no pedal
edema,no palpitations
• CHEST: Cough +(occasionally), no SOB,no chest pain,no sputum production
• GASTROINTESTINAL: Alternative diarrhea and constipation, aphthous ulcers+,no
nausea,no vomiting,no hemmorides,no pain abdomen
• CNS: headache+,no vertigo,no double vision,no nausea vomiting,no numbness
paresthesias,no weakness,no tremors,no fits(except 1 time)
• GENTOURINARY: No dysuria,hematuria,nocturia,polyuria .less frequently urinery
incontinence.no flank pain.
• GYENECOLOGICAL: regular menstruation e no unusual history

14. GENERAL PHYSICIAL EXAMINATION
• A middle aged female,sitting comfortably e GCS of 15/15 ( well oriented in time
place and person) with vitals of
• BP 130/80mmhg pulse 78/min
• Temp A/F spO2. 97%@RA
• R/R 16/min BSR 130mg/dl
• Pulse regularly regular e no radio radial or radio femoral delay.
• NAIL EXAMINATION:
• Leukonychia+ , no signs of clubbing,koilonychia,half and half nails,splinter
hemorrhages.

15. HAND + MUSCULOSKELETAL EXAMINATION:
• INSPECTION –
• Palmer surface of hands showing no signs Palmer erythema
• Dorsum of hands Showing b/l pigmentation with edematous (slight) look.
• Right hand showing,Z deformity of index finger and thumb,and swan neck
deformity of middle finger
• Left hand showing , Z deformity of index finger with ulnar deviation
• No tremors in hands B/L,Prayer sign was positive
• She was unable to make a fist,but she was able to hold a glass and write her
name with a little difficulty

16. • No Signs of Heberden’s or bouchards nodes visible in hands B/L
• Joint movement was restricted mildly in major joints(knee ,shoulder and hip B/L) and
moderately in smaller joints of hands.
• Gait was Slightly low steppage d/t joint restriction
• PALPATION-
• No sweating but cold peripheries B/L
• B/L ulnar and radial pulses were palpable

17. GPE (CONT...)
FACE EXAMINATION
• Wrinkle less face with calm look
• Pallor+
• Angular cheilitis with fish mouth (thin lips)
• No pigmentation at face or muscle wasting
• EYES-
• Conjunctiva slight pale,sclera wasn’t yellow,no signs of xerosis ,no signs of red eye
• TONGUE –
• Hydrated,no wasting,no fasciculations,no signs of cyanosis or jaundice

18. GPE (CONT...)
NECK EXAMINATION -
• No cervical lymph nodes palpable,no thyroid palpable,or swelling Seen with
deglutition,no raise of JVP,hepato jugular reflex was negative
• FEET EXAMINATION –
• No deformity seen in feet
• No signs of pedal edema b/l
• >>No signs of sacral edema,or any signs of ileal biopsy

19. SYSTEMIC EXAMINATION:
CHEST EXAMINATION -
• On inspection: Normal chest shape (eleptical) with no deformity
(kyphosis,scoliosis,barrel),Thoraco-abdominal pattern of breath,no scar marks
seen,no use of assesory muscle,no muscle wasting or scar marks observed
• On palpation: Trachea central,no tenderness,normal chest expansion,apex beat
in 5th IC,at MC,4 finger away from substernal line
• On percussion: persuasion note resonant throughout no dull percussion
note,vocal fremitus normal
• On Auscultation: Fine crepts(inspiratory),more on lungs bases R>L
• Otherwise lung field clear with EAE, vocal resonance Normal

20. • CVS ,CNS , GIT performed....with no significant findings....
• DIFFERENTIAL DIAGNOSIS:
1- Rheumatoid arthritis
2- Mixed Connective tissue disorder
3- SLE
• 4- Sjogren syndrome
• 5- Sarcoidosis
• 6-polymyositis
• 7- Osteoarthritis
• 8- Fibromyalgias

21. LABS:
• CBC showing
• Hb 10.6 MCV 77 TLC 6.8 (neutrophils 68 and lymphos 27) plt 330
• LFTs (WNL)
• RFTs (WNL)
• SE (WNL)
• Urine R/E (WNL)
• Lipid profile (WNL)

22. CONT..
• EXTRACTABLE NUCLEAR ANTIGEN ANTIBODIES:
• Anti SM antibodies +ve
• Anti RNP antibodies +ve
• Anti SSA(Ro) antibodies -ve
• Anti SSB(La) antibodies -ve
• Anti Sci 70antibodies. -ve
• >> RA (+ve) >> Anti Jo antibodies (-ve) >> ANA antibodies (-ve)

26. MIXED CONNECTIVE TISSUE DISORDER & OVERLAP
SYNDROME
• Many patients with symptoms and signs of a connective tissue disease have features
of more than one type of rheumatic disease.
• ANA positive patients who have a high titers of RNP autoantibodies and overlapping
features of SLE,systemic sclerosis,RA and inflammatory myositis.
• Swollen and puffy hands are a common early feature of this disease(present in my
patient)
• Raynaud phenomenon,arthralgia,and myalgias are common.
• Unlike SLE (isolated disease)...renal or central nervous system Involvement is
uncommon.
• Key reason to identify such patients is that, pulmonary HTN and ILD are major
causes of mortality,& regular screening for these menifestations is required.(my
patient had fine basal crepts)

27. • Some patients have features of more than one connective tissue disease eg RA
and SLE or SLE and systemic sclerosis, in the absence of high titer anti RNP
autoantibodies are referred to as having an overlap syndrome.
• Treatments are guided more by the distribution and severity of patients organ
system involvement than by therapies specific to these overlap syndromes.
• As my patient currently has more of the symptoms of RHEUMATOID ARTHRITIS
WITH DEFORMITY so,I will be explaining it in detail,in my further slides.